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2024-04-18 15:44:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016498 1298 bp mRNA linear PRI 08-JUL-2013
DEFINITION Homo sapiens mitochondrial fission process 1 (MTFP1), transcript
variant 1, mRNA.
ACCESSION NM_016498
VERSION NM_016498.4 GI:323639474
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 1298)
AUTHORS Eriksson,N., Benton,G.M., Do,C.B., Kiefer,A.K., Mountain,J.L.,
Hinds,D.A., Francke,U. and Tung,J.Y.
TITLE Genetic variants associated with breast size also influence breast
cancer risk
JOURNAL BMC Med. Genet. 13, 53 (2012)
PUBMED 22747683
REMARK Publication Status: Online-Only
REFERENCE 2 (bases 1 to 1298)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 1298)
AUTHORS Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
Yoshida,H., Satoh,K., Aoyagi,Y., Nishigaki,Y., Nozawa,Y. and
Yamada,Y.
TITLE Association of genetic variants with chronic kidney disease in
individuals with different lipid profiles
JOURNAL Int. J. Mol. Med. 24 (2), 233-246 (2009)
PUBMED 19578796
REMARK GeneRIF: Observational study of gene-disease association and
gene-environment interaction. (HuGE Navigator)
REFERENCE 4 (bases 1 to 1298)
AUTHORS Chen,S.N., Cilingiroglu,M., Todd,J., Lombardi,R., Willerson,J.T.,
Gotto,A.M. Jr., Ballantyne,C.M. and Marian,A.J.
TITLE Candidate genetic analysis of plasma high-density
lipoprotein-cholesterol and severity of coronary atherosclerosis
JOURNAL BMC Med. Genet. 10, 111 (2009)
PUBMED 19878569
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1298)
AUTHORS Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M.,
Wijmenga,C., Feskens,E.J. and Boer,J.M.
TITLE Multiple genetic variants along candidate pathways influence plasma
high-density lipoprotein cholesterol concentrations
JOURNAL J. Lipid Res. 49 (12), 2582-2589 (2008)
PUBMED 18660489
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 1298)
AUTHORS Tondera,D., Czauderna,F., Paulick,K., Schwarzer,R., Kaufmann,J. and
Santel,A.
TITLE The mitochondrial protein MTP18 contributes to mitochondrial
fission in mammalian cells
JOURNAL J. Cell. Sci. 118 (PT 14), 3049-3059 (2005)
PUBMED 15985469
REFERENCE 7 (bases 1 to 1298)
AUTHORS Cheng,J., Kapranov,P., Drenkow,J., Dike,S., Brubaker,S., Patel,S.,
Long,J., Stern,D., Tammana,H., Helt,G., Sementchenko,V.,
Piccolboni,A., Bekiranov,S., Bailey,D.K., Ganesh,M., Ghosh,S.,
Bell,I., Gerhard,D.S. and Gingeras,T.R.
TITLE Transcriptional maps of 10 human chromosomes at 5-nucleotide
resolution
JOURNAL Science 308 (5725), 1149-1154 (2005)
PUBMED 15790807
REFERENCE 8 (bases 1 to 1298)
AUTHORS Tondera,D., Santel,A., Schwarzer,R., Dames,S., Giese,K., Klippel,A.
and Kaufmann,J.
TITLE Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent
protein, affects mitochondrial morphology and induces apoptosis
JOURNAL J. Biol. Chem. 279 (30), 31544-31555 (2004)
PUBMED 15155745
REMARK GeneRIF: MTP18 mRNA as well as protein expression is dependent on
PI 3-kinase activity.
REFERENCE 9 (bases 1 to 1298)
AUTHORS Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
Huckle,E.J., Beare,D.M. and Dunham,I.
TITLE A genome annotation-driven approach to cloning the human ORFeome
JOURNAL Genome Biol. 5 (10), R84 (2004)
PUBMED 15461802
REFERENCE 10 (bases 1 to 1298)
AUTHORS Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
al.
TITLE The DNA sequence of human chromosome 22
JOURNAL Nature 402 (6761), 489-495 (1999)
PUBMED 10591208
REMARK Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
CB107806.1, BC046132.1 and BC001608.1.
On Feb 18, 2011 this sequence version replaced gi:51243054.
Summary: MTP18 is a mitochondrial protein and downstream target of
the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834)
signaling pathway that plays a role in cell viability and
mitochondrial dynamics (Tondera et al., 2004 [PubMed
15155745]).[supplied by OMIM, Mar 2008].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer 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 :: BC030989.2, AF151076.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025083 [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
1-210 CB107806.1 1-210
211-942 BC046132.1 1-732
943-1298 BC001608.1 769-1124
FEATURES Location/Qualifiers
source 1..1298
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q"
gene 1..1298
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/note="mitochondrial fission process 1"
/db_xref="GeneID:51537"
/db_xref="HGNC:26945"
/db_xref="HPRD:17612"
/db_xref="MIM:610235"
exon 1..324
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="alignment:Splign:1.39.8"
variation 9
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:188725094"
misc_feature 45..47
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/note="upstream in-frame stop codon"
variation 56
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="c"
/db_xref="dbSNP:374983915"
variation 97
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:112209450"
variation 196
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:369330304"
variation 228..229
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace=""
/replace="g"
/db_xref="dbSNP:371460788"
variation 237
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:73390246"
CDS 258..758
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/note="isoform a is encoded by transcript variant 1;
mitochondrial protein 18 kDa; mitochondrial 18 kDa
protein; mitochondrial fission process protein 1;
mitochondrial fission protein MTP18"
/codon_start=1
/product="mitochondrial fission process protein 1 isoform
a"
/protein_id="NP_057582.2"
/db_xref="GI:51243055"
/db_xref="CCDS:CCDS33635.1"
/db_xref="GeneID:51537"
/db_xref="HGNC:26945"
/db_xref="HPRD:17612"
/db_xref="MIM:610235"
/translation="
MSEPQPRGAERDLYRDTWVRYLGYANEVGEAFRSLVPAAVVWLSYGVASSYVLADAIDKGKKAGEVPSPEAGRSARVTVAVVDTFVWQALASVAIPGFTINRVCAASLYVLGTATRWPLAVRKWTTTALGLLTIPIIIHPIDRSVDFLLDSSLRKLYPTVGKPSSS
"
misc_feature 315..704
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/note="Mitochondrial 18 KDa protein (MTP18); Region:
MTP18; pfam10558"
/db_xref="CDD:192627"
misc_feature 357..419
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1);
transmembrane region"
misc_feature 495..557
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1);
transmembrane region"
misc_feature 642..704
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1);
transmembrane region"
exon 325..452
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="alignment:Splign:1.39.8"
variation 329
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:376065643"
variation 344
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="c"
/db_xref="dbSNP:138977455"
variation 358
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:149417550"
variation 373..374
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace=""
/replace="ggggg"
/replace="gggggggg"
/db_xref="dbSNP:141372205"
variation 396
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:369159462"
variation 403
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="g"
/replace="t"
/db_xref="dbSNP:373693838"
variation 433
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:145380632"
exon 453..685
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="alignment:Splign:1.39.8"
variation 475
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="g"
/replace="t"
/db_xref="dbSNP:144789689"
variation 491
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:5753130"
variation 513
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="g"
/replace="t"
/db_xref="dbSNP:201155573"
variation 516
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="t"
/db_xref="dbSNP:375980065"
variation 525
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="g"
/db_xref="dbSNP:200292962"
variation 543
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="g"
/db_xref="dbSNP:75751390"
variation 545
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:9606726"
variation 562
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:147279727"
variation 583
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:140799501"
variation 602
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:144658742"
variation 604
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:200868424"
variation 618
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:181729673"
variation 622
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:368585265"
variation 638
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:375879952"
variation 639
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:112718421"
variation 640
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:200231697"
variation 641
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:199831786"
variation 647
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:201316604"
variation 660
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="c"
/db_xref="dbSNP:200787514"
variation 662
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:150823885"
variation 666
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:369280556"
variation 674
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:75687289"
exon 686..1278
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/inference="alignment:Splign:1.39.8"
variation 689
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:199553916"
variation 717
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:114838293"
variation 718
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:369745248"
variation 723
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:1046176"
variation 725
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:200885673"
variation 764
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:199900003"
variation 773
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="g"
/db_xref="dbSNP:373617132"
variation 800
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:149947053"
variation 803
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:200697149"
variation 845
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="g"
/db_xref="dbSNP:145009856"
variation 858
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="t"
/db_xref="dbSNP:114347202"
variation 882
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:143355158"
variation 896..897
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace=""
/replace="a"
/db_xref="dbSNP:149958301"
variation 931
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:45513091"
variation 934
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="t"
/db_xref="dbSNP:1062997"
variation 943
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:201572216"
variation 992
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:13058535"
STS 1044..1223
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/standard_name="RH77730"
/db_xref="UniSTS:15727"
variation 1087
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="c"
/replace="t"
/db_xref="dbSNP:11558623"
variation 1156
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:184460594"
variation 1176
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:11704308"
variation 1208
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="g"
/db_xref="dbSNP:144639758"
variation 1254
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="g"
/replace="t"
/db_xref="dbSNP:140697344"
variation 1278
/gene="MTFP1"
/gene_synonym="HSPC242; MTP18"
/replace="a"
/replace="t"
/db_xref="dbSNP:3177408"
ORIGIN
actcagtcctgggagcgattagcgccaacagctcagagaaaacgtgacgaaaaccagtctgtaaaacccgagcctgggagaggggcttcggtgcgcggggggaatttgcagacgctccctgctggcggagatttcctgacctgtccttcggcgcgggactttcggcgggtcccggccgggcagacccaagtgccggcggcggagactgcagtggagccagtaccggctgtagtggccggggccgtggcgggagagtcatgtcagagccgcagccgcggggcgcagagcgcgatctctaccgggacacgtgggtgcgatacctgggctatgccaatgaggtgggcgaggctttccgctctcttgtgccagcggcggtggtgtggctgagctatggcgtggccagctcctacgtgctggcggatgccattgacaaaggcaagaaggctggagaggtgcccagccctgaagcaggccgcagcgccagggtgactgtggctgtggtggacacctttgtatggcaggctctagcctctgtggccattccgggcttcaccatcaaccgcgtgtgtgctgcctctctctatgtcctgggcactgccacccgctggcccctggctgtccgcaagtggaccaccaccgcgcttgggctgttgaccatccccatcattatccaccccattgacaggtcggtggatttcctcctggactccagcctgcgcaagctctacccaacagtggggaagcccagctcctcctgatcatactctggtacctggcctgtgcatcggcctcctgcttcatgtcaacctcctactcctgccagggaatgtggacacctggctccctggtgtccaaagaccctggcacctgggtgggtttgagctggacagaagcttagagacaaaggcttcaagaagcagtggctgcagggagtcacagaagggcaggacctgaacgctgtctgcttccctggaatccaagatgctgagtggaagtggaccctgggtgggcccggccctgtctttttcaggaaaattacatcctcccatggaggatgagagactgaggctcagggagggcaaggaataggcccaagatcacttggcaagctgggcacccaggacccccaggtgcttgacagagtcaccccatggtggtatggctgaacaaggagcggcagacaactcagggagaaactcaggagtgcagtaccagggacacctcaggacagattctctggccaggcccttccctgacccaataaatcctgaagaggttaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51537 -> Biological process: GO:0000266 [mitochondrial fission] evidence: IMP
GeneID:51537 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:51537 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: IDA
GeneID:51537 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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