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Previous release (v1)
2024-04-20 20:01:52, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001003697 641 bp mRNA linear PRI 28-DEC-2022
DEFINITION Homo sapiens ATP synthase peripheral stalk subunit F6 (ATP5PF),
transcript variant 4, mRNA; nuclear gene for mitochondrial product.
ACCESSION NM_001003697
VERSION NM_001003697.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 641)
AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
MA.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 2 (bases 1 to 641)
AUTHORS Fasci D, van Ingen H, Scheltema RA and Heck AJR.
TITLE Histone Interaction Landscapes Visualized by Crosslinking Mass
Spectrometry in Intact Cell Nuclei
JOURNAL Mol Cell Proteomics 17 (10), 2018-2033 (2018)
PUBMED 30021884
REFERENCE 3 (bases 1 to 641)
AUTHORS Bai B, Xie B, Pan Z, Shan L, Zhao J and Zhu H.
TITLE Identification of candidate genes and long non-coding RNAs
associated with the effect of ATP5J in colorectal cancer
JOURNAL Int J Oncol 52 (4), 1129-1138 (2018)
PUBMED 29484395
REMARK GeneRIF: AKT2 and XIST expression was identified as a potential
biomarker participating in the effect of ATP5J in colorectal cancer
REFERENCE 4 (bases 1 to 641)
AUTHORS Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET,
Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK,
Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS,
Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ and Pagliarini
DJ.
TITLE Mitochondrial Protein Interaction Mapping Identifies Regulators of
Respiratory Chain Function
JOURNAL Mol Cell 63 (4), 621-632 (2016)
PUBMED 27499296
REFERENCE 5 (bases 1 to 641)
AUTHORS Kawai M, Osanai T, Tanaka M, Magota K, Tomita H and Okumura K.
TITLE Mitochondrial Inhibitory Factor Protein 1 Functions as an
Endogenous Inhibitor for Coupling Factor 6
JOURNAL J Cell Biochem 117 (7), 1680-1687 (2016)
PUBMED 26659871
REMARK GeneRIF: CF6-induced increase in apoptotic cells was blocked by
immature or mature IF1, being accompanied by protein kinase B (PKB)
phosphorylation. IF1 antagonizes the pro-apoptotic action of CF6 by
relief of intracellular acidification and resultant phosphorylation
of PKB.
REFERENCE 6 (bases 1 to 641)
AUTHORS Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee
NH, Kirkness EF, Weinstock KG, Gocayne JD, White O et al.
TITLE Initial assessment of human gene diversity and expression patterns
based upon 83 million nucleotides of cDNA sequence
JOURNAL Nature 377 (6547 Suppl), 3-174 (1995)
PUBMED 7566098
REFERENCE 7 (bases 1 to 641)
AUTHORS Hochstrasser DF, Frutiger S, Paquet N, Bairoch A, Ravier F,
Pasquali C, Sanchez JC, Tissot JD, Bjellqvist B, Vargas R et al.
TITLE Human liver protein map: a reference database established by
microsequencing and gel comparison
JOURNAL Electrophoresis 13 (12), 992-1001 (1992)
PUBMED 1286669
REFERENCE 8 (bases 1 to 641)
AUTHORS Higuti T, Tsurumi C, Kawamura Y, Tsujita H, Osaka F, Yoshihara Y,
Tani I, Tanaka K and Ichihara A.
TITLE Molecular cloning of cDNA for the import precursor of human
coupling factor 6 of H(+)-ATP synthase in mitochondria
JOURNAL Biochem Biophys Res Commun 178 (2), 793-799 (1991)
PUBMED 1830479
REFERENCE 9 (bases 1 to 641)
AUTHORS Javed AA, Ogata K and Sanadi DR.
TITLE Human mitochondrial ATP synthase: cloning cDNA for the
nuclear-encoded precursor of coupling factor 6
JOURNAL Gene 97 (2), 307-310 (1991)
PUBMED 1825642
REFERENCE 10 (bases 1 to 641)
AUTHORS Boyer,P.D., Cross,R.L. and Momsen,W.
TITLE A new concept for energy coupling in oxidative phosphorylation
based on a molecular explanation of the oxygen exchange reactions
JOURNAL Proc Natl Acad Sci U S A 70 (10), 2837-2839 (1973)
PUBMED 4517936
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC001178.1, BG938438.1,
BC066310.1 and AI085837.1.
On Aug 11, 2020 this sequence version replaced NM_001003697.1.
Summary: Mitochondrial ATP synthase catalyzes ATP synthesis,
utilizing an electrochemical gradient of protons across the inner
membrane during oxidative phosphorylation. It is composed of two
linked multi-subunit complexes: the soluble catalytic core, F1, and
the membrane-spanning component, Fo, which comprises the proton
channel. The F1 complex consists of 5 different subunits (alpha,
beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3
beta, and a single representative of the other 3. The Fo complex
has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene
encodes the F6 subunit of the Fo complex. The F6 subunit is
required for F1 and Fo interactions. Alternatively spliced
transcript variants encoding different isoforms have been
identified for this gene. This gene has 1 or more pseudogenes.
[provided by RefSeq, Feb 2016].
Transcript Variant: This variant (4) differs in the 5' UTR,
compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same
isoform (a).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BG938438.1, SRR14038195.349597.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1966682, SAMEA1968189
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-14 BC001178.1 21-34
15-167 BG938438.1 9-161
168-596 BC001178.1 686-1114
597-639 BC066310.1 548-590
640-641 AI085837.1 28-29 c
FEATURES Location/Qualifiers
source 1..641
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q21.3"
gene 1..641
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="ATP synthase peripheral stalk subunit F6"
/db_xref="GeneID:522"
/db_xref="HGNC:HGNC:847"
/db_xref="MIM:603152"
exon 1..167
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/inference="alignment:Splign:2.1.0"
variation 1
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="g"
/db_xref="dbSNP:2035023272"
variation 1
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:902159688"
variation 2
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:1328627733"
variation 3..7
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ggggg"
/replace="gggggg"
/db_xref="dbSNP:2035022283"
variation 3
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1174374257"
variation 5
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035022749"
variation 6
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:911279979"
variation 7
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1409861246"
variation 11
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2035022003"
variation 12..33
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ggccccggaacgaggccggccc"
/replace="ggccccggaacgaggccggccccggaacgaggccggccc"
/db_xref="dbSNP:2123473038"
variation 12
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2035021862"
variation 17
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:985958430"
variation 18
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035021571"
variation 19
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1041020543"
variation 20
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123473166"
variation 22
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:868604351"
variation 23
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035021048"
variation 26
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035020914"
variation 27
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035020766"
variation 28
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:994379901"
variation 29..46
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ggcccgcg"
/replace="ggcccgcgagggcccgcg"
/db_xref="dbSNP:2035018508"
variation 29
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1336927968"
variation 30
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1601099631"
variation 32
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:2123473052"
variation 33
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035020078"
variation 34
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:961606734"
variation 35
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1401615549"
variation 37
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1025251538"
variation 38
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:536528775"
variation 39
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1483997145"
variation 40
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035018962"
variation 41
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1403938510"
variation 44
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035018659"
variation 46..53
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="gctcccct"
/replace="gctcccctgctcccct"
/db_xref="dbSNP:2035017854"
variation 47..60
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ctcccctcctcccc"
/replace="ctcccctcctcccctcctcccc"
/db_xref="dbSNP:1475099463"
variation 49
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035018367"
variation 50
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1601099562"
variation 52
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:889665601"
variation 54
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1267984300"
variation 55
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035017574"
variation 57
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:2123472786"
variation 58
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1490572905"
variation 60
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1164057940"
variation 61
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:895496959"
variation 64
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035016815"
variation 66
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2123472697"
variation 69
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1049601958"
variation 71
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1392501047"
variation 75
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035016358"
variation 76
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1302912314"
variation 77
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035016032"
variation 78
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123472603"
variation 81
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:931113701"
variation 82
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1366653851"
variation 83
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1601099428"
variation 84
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1386959035"
variation 85
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:2035015389"
variation 89
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035015258"
variation 90
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035015127"
variation 91
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1325057977"
variation 92
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035014850"
variation 93..94
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="ct"
/db_xref="dbSNP:2035014594"
variation 93
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:920042077"
variation 94
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035014451"
variation 102
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1601099374"
variation 103
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1178056159"
variation 108
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:972776579"
variation 110
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035013909"
variation 111
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2123472378"
variation 113
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035013784"
variation 115
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035013659"
variation 116
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1297711098"
variation 121
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1601099335"
misc_feature 124..126
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="upstream in-frame stop codon"
variation 124
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1457293935"
variation 126
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1233365619"
variation 127
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1206437383"
variation 128
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1319705600"
variation 130
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035012632"
variation 131
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2035012483"
variation 137
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:940064472"
variation 139
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1290714765"
variation 143
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:928632142"
variation 144
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1211444046"
variation 151
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035011810"
variation 160
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2043637819"
variation 162
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2035011652"
variation 163
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2035011518"
variation 164
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:567469212"
variation 165
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2035011397"
variation 166
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1446645413"
variation 167
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1189236484"
exon 168..338
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/inference="alignment:Splign:2.1.0"
variation 171
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:764878225"
variation 172
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1343418699"
variation 173
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:762129702"
CDS 175..501
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/EC_number="3.6.1.14"
/note="isoform a precursor is encoded by transcript
variant 4; ATP synthase, H+ transporting, mitochondrial F0
complex, subunit F6; coupling factor 6; mitochondrial ATP
synthase, subunit F6; mitochondrial ATPase coupling factor
6; mitochondrial ATP synthase, coupling factor 6; ATP
synthase-coupling factor 6, mitochondrial;
proliferation-inducing protein 36; ATPase subunit F6; ATP
synthase, H+ transporting, mitochondrial Fo complex
subunit F6; ATP synthase subunit h"
/codon_start=1
/product="ATP synthase-coupling factor 6, mitochondrial
isoform a precursor"
/protein_id="NP_001003697.1"
/db_xref="CCDS:CCDS13574.1"
/db_xref="GeneID:522"
/db_xref="HGNC:HGNC:847"
/db_xref="MIM:603152"
/translation="
MILQRLFRFSSVIRSAVSVHLRRNIGVTAVAFNKELDPIQKLFVDKIREYKSKRQTSGGPVDASSEYQQELERELFKLKQMFGNADMNTFPTFKFEDPKFEVIEKPQA"
misc_feature 175..462
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="Mitochondrial ATP synthase coupling factor 6;
Region: ATP-synt_F6; pfam05511"
/db_xref="CDD:428503"
transit_peptide 175..270
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
mat_peptide 271..498
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/product="ATP synthase-coupling factor 6, mitochondrial
isoform a"
misc_feature 295..297
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
misc_feature 310..312
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
misc_feature 367..369
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (P18859.1); phosphorylation site"
misc_feature 409..411
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine.
/evidence=ECO:0000250|UniProtKB:P97450; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
misc_feature 454..456
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine, alternate.
/evidence=ECO:0000250|UniProtKB:P97450; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
misc_feature 469..471
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine, alternate.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
misc_feature 487..489
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (P18859.1); acetylation site"
variation 188
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034711676"
variation 189
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2034711557"
variation 190
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:927006271"
variation 192
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:753918454"
variation 195
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123448326"
variation 201..206
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ctc"
/replace="ctcctc"
/db_xref="dbSNP:1395648371"
variation 201
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:760716483"
variation 202
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:776045850"
variation 204..207
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="ct"
/replace="ctct"
/db_xref="dbSNP:968473118"
variation 209
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:772553715"
variation 211
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:759900968"
variation 214
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1601087521"
variation 215
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1371027232"
variation 216
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:774782770"
variation 222
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:771159388"
variation 223
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368127706"
variation 224
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:957686958"
variation 232
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1422827044"
variation 237
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:11539871"
variation 238
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:140201687"
variation 239
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:369621263"
variation 242
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:746509917"
variation 243
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1010507611"
variation 246
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:955957513"
variation 247
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1194554045"
variation 251
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1358964233"
variation 252
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:1266353232"
variation 254
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:200421087"
variation 256
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1568929727"
variation 257
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:758417035"
variation 260
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1019960803"
variation 262
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:750292108"
variation 263..264
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="aatactttcaaataccaa"
/db_xref="dbSNP:2034707971"
variation 265
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034707871"
variation 266
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:73338261"
variation 272
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368172603"
variation 274
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1007985613"
variation 277
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:149245672"
variation 279
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1601087317"
variation 283
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:764298477"
variation 284
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:536059571"
variation 286
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1163580012"
variation 287
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1384488440"
variation 289
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:752786714"
variation 294
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1415291165"
variation 295..297
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:2034706316"
variation 298
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1183897090"
variation 299
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2034706058"
variation 300
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1430363865"
variation 301..303
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="t"
/replace="ttt"
/db_xref="dbSNP:1393961964"
variation 302
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:567499162"
variation 303
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373840948"
variation 306
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1231795208"
variation 308
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034705101"
variation 314
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1180317023"
variation 315
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:774671016"
variation 319
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:771372468"
variation 324
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123447841"
variation 334
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:763191934"
variation 338
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776490258"
exon 339..463
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/inference="alignment:Splign:2.1.0"
variation 340
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:553688215"
variation 341
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:767606651"
variation 355
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:754987252"
variation 356
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:752144423"
variation 358
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="g"
/db_xref="dbSNP:2034589850"
variation 358
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:533556852"
variation 359
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:182225698"
variation 362
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1221074967"
variation 364
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123437587"
variation 365
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1345807661"
variation 366
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1485164642"
variation 367
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:919289227"
variation 368
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:763429164"
variation 369
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:573531529"
variation 371
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:773719063"
variation 372
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1322253921"
variation 378
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:765659991"
variation 380..381
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="aa"
/db_xref="dbSNP:749625858"
variation 382
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:972113247"
variation 383
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034588402"
variation 385
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1315768974"
variation 393
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:971480358"
variation 396
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1026381485"
variation 401
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123437423"
variation 407
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034587977"
variation 415
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:760430074"
variation 416
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:775263367"
variation 418
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1733145396"
variation 420
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:771654361"
variation 421
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:958917807"
variation 423
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1392449805"
variation 431
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1428518577"
variation 433
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:745365748"
variation 434
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:774407202"
variation 437
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1240649245"
variation 439
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034586881"
variation 441
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:770789152"
variation 442
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034586670"
variation 446
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:749156518"
variation 448
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1033273480"
variation 450
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2034586352"
variation 451
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034586251"
variation 453
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123437238"
variation 454
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034586145"
variation 455
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1279645287"
variation 463
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034585888"
exon 464..641
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/inference="alignment:Splign:2.1.0"
variation 467
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1309223162"
variation 471
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2034569845"
variation 472
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034569737"
variation 474
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1384069257"
variation 480
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034569525"
variation 483
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:377177728"
variation 485
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:2034569275"
variation 489
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1353159026"
variation 491
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803181"
variation 492
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:11539867"
variation 498
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:138359468"
variation 503
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:768771738"
variation 506
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:747217889"
variation 508
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1427081751"
variation 510
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2034568501"
variation 514
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:780022177"
variation 517
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:994744738"
variation 519
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1252595304"
variation 521
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373517431"
variation 522
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:540364911"
variation 524
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1036291223"
variation 525
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1223421103"
variation 532
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2034567814"
variation 536
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369627415"
variation 537
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200700811"
variation 538
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:757754345"
variation 539
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123435269"
variation 540
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1330633898"
variation 541
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:917291483"
variation 544
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:754271063"
variation 545
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:372312396"
variation 548
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034567227"
variation 549
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:759141938"
variation 555
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:372728601"
regulatory 569..574
/regulatory_class="polyA_signal_sequence"
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="hexamer: AATAAA"
variation 570
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1806861954"
variation 571
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1474338894"
variation 573
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="t"
/db_xref="dbSNP:1164561108"
variation 577
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034566821"
variation 578
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1369112529"
variation 579
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:939429836"
variation 585
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:937457495"
variation 589
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1214030750"
variation 592
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:926130853"
polyA_site 596
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="major polyA site"
variation 599
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:554635248"
variation 601
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1401817304"
variation 602
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1300411736"
variation 603
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034566177"
variation 605..611
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="t"
/replace="taattct"
/db_xref="dbSNP:1353999352"
variation 607
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1601081670"
variation 609..611
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="t"
/replace="tct"
/db_xref="dbSNP:1281971190"
variation 613
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="a"
/db_xref="dbSNP:1292359789"
variation 614
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2034565771"
variation 615
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034565702"
variation 617
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034565630"
regulatory 619..624
/regulatory_class="polyA_signal_sequence"
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="hexamer: AATAAA"
variation 624..628
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace=""
/replace="attat"
/db_xref="dbSNP:1340713037"
variation 624
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:2034565561"
variation 628
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:2034565408"
variation 629
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="g"
/replace="t"
/db_xref="dbSNP:2034565331"
variation 630
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1223134238"
variation 631
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2034565183"
variation 634
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:928021688"
variation 637
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1258470622"
polyA_site 641
/gene="ATP5PF"
/gene_synonym="ATP5; ATP5A; ATP5J; ATPM; CF6; F6"
/note="major polyA site"
ORIGIN
gtgggggaaaaggccccggaacgaggccggcccgcgagggcccgcgctcccctcctccccggcggccgcactcacccactccggaatcggccctgtcgcccccgcccgcactccagagccggctgagaacggcagcggcgagggctccacgtgcagcgtctctccggaatcagcatgattcttcagaggctcttcaggttctcctctgtcattcggtcagccgtctcagtccatttgcggaggaacattggtgttacagcagtggcatttaataaggaacttgatcctatacagaaactctttgtggacaagattagagaatacaaatctaagcgacagacatctggaggacctgttgatgctagttcagagtatcagcaagagctggagagggagctttttaagctcaagcaaatgtttggtaatgcagacatgaatacatttcccaccttcaaatttgaagatcccaaatttgaagtcatcgaaaaaccccaggcctgaagaaataaagtaaaattaatctggtaatttgtcacggattagttgtacaactagttagaagtttcagaataaacatgcatttcataactgtcaaatgttcttttaattctgagtccaaataaattatttggtgatgttga
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
[Full Text]