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2025-05-09 17:39:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NR_047571 7840 bp RNA linear PRI 17-JUL-2013
DEFINITION Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1),
transcript variant 4, non-coding RNA.
ACCESSION NR_047571
VERSION NR_047571.1 GI:384367971
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 7840)
AUTHORS Zhang,J., Reiling,C., Reinecke,J.B., Prislan,I., Marky,L.A.,
Sorgen,P.L., Naslavsky,N. and Caplan,S.
TITLE Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic
trafficking and retromer function
JOURNAL Traffic 13 (5), 745-757 (2012)
PUBMED 22284051
REMARK GeneRIF: Rabankyrin-5 interacts with EHD1 and Vps26 to regulate
endocytic trafficking and retromer function
REFERENCE 2 (bases 1 to 7840)
AUTHORS Bouslam,N., Bouhouche,A., Benomar,A., Hanein,S., Klebe,S.,
Azzedine,H., Di Giandomenico,S., Boland-Auge,A., Santorelli,F.M.,
Durr,A., Brice,A., Yahyaoui,M. and Stevanin,G.
TITLE A novel locus for autosomal recessive spastic ataxia on chromosome
17p
JOURNAL Hum. Genet. 121 (3-4), 413-420 (2007)
PUBMED 17273843
REFERENCE 3 (bases 1 to 7840)
AUTHORS Schnatwinkel,C., Christoforidis,S., Lindsay,M.R.,
Uttenweiler-Joseph,S., Wilm,M., Parton,R.G. and Zerial,M.
TITLE The Rab5 effector Rabankyrin-5 regulates and coordinates different
endocytic mechanisms
JOURNAL PLoS Biol. 2 (9), E261 (2004)
PUBMED 15328530
REMARK GeneRIF: Rab5 regulates and coordinates different endocytic
mechanisms through its effector Rabankyrin-5
REFERENCE 4 (bases 1 to 7840)
AUTHORS Kuriyama,H., Asakawa,S., Minoshima,S., Maruyama,H., Ishii,N.,
Ito,K., Gejyo,F., Arakawa,M., Shimizu,N. and Kuwano,R.
TITLE Characterization and chromosomal mapping of a novel human gene,
ANKHZN
JOURNAL Gene 253 (2), 151-160 (2000)
PUBMED 10940552
REFERENCE 5 (bases 1 to 7840)
AUTHORS Ito,K., Ishii,N., Miyashita,A., Tominaga,K., Kuriyama,H.,
Maruyama,H., Shirai,M., Naito,M., Arakawa,M. and Kuwano,R.
TITLE Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn,
containing Ankyrin repeats hooked to a zinc finger motif
JOURNAL Biochem. Biophys. Res. Commun. 257 (1), 206-213 (1999)
PUBMED 10092534
REMARK GeneRIF: Characterization of the related mouse gene
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL706226.1, AK057047.1 and
AC087292.14.
Summary: This gene encodes a cytoplasmic protein that contains a
coiled-coil structure and a BTB/POZ domain at its N-terminus,
ankyrin repeats in the middle portion, and a FYVE-finger motif at
its C-terminus. This protein belongs to a subgroup of double zinc
finger proteins which may be involved in vesicle or protein
transport. Alternate splicing results in multiple transcript
variants of this gene. [provided by RefSeq, Apr 2012].
Transcript Variant: This variant (4) lacks an internal exon,
compared to variant 1. This variant is represented as non-coding
because the use of the 5'-most supported translational start codon,
as used in variant 1, renders the transcript a candidate for
nonsense-mediated mRNA decay (NMD).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-23 AL706226.1 2-24
24-1439 AK057047.1 1-1416
1440-1440 AC087292.14 172048-172048 c
1441-3375 AK057047.1 1418-3352
3376-7840 AC087292.14 150422-154886 c
FEATURES Location/Qualifiers
source 1..7840
/organism="Homo sapiens"
/mol_type="transcribed RNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13.3"
gene 1..7840
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/note="ankyrin repeat and FYVE domain containing 1"
/db_xref="GeneID:51479"
/db_xref="HGNC:20763"
/db_xref="MIM:607927"
misc_RNA 1..7840
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/product="ankyrin repeat and FYVE domain containing 1,
transcript variant 4"
/db_xref="GeneID:51479"
/db_xref="HGNC:20763"
/db_xref="MIM:607927"
exon 1..48
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
misc_feature 39..248
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="COORDINATES: ab initio prediction:ORF Finder"
/note="primary ORF has stop codon >50 nucleotides from the
terminal splice site; nonsense-mediated mRNA decay
(NMD)candidate"
exon 49..241
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 242..377
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 378..501
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 502..651
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 652..817
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
variation 681
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="c"
/replace="t"
/db_xref="dbSNP:369749781"
variation 711
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="c"
/replace="t"
/db_xref="dbSNP:3744671"
exon 818..1022
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1023..1091
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1092..1291
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1292..1389
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1390..1618
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
variation 1440
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="a"
/replace="g"
/db_xref="dbSNP:2020118"
variation 1557
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="a"
/replace="t"
/db_xref="dbSNP:1973059"
exon 1619..1717
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1718..1871
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 1872..2043
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2044..2162
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2163..2319
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2320..2520
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2521..2697
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2698..2845
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2846..2936
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 2937..3061
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 3062..3208
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 3209..3299
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
exon 3300..7840
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/inference="alignment:Splign:1.39.8"
variation 4490
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045016"
variation 4770
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="g"
/replace="t"
/db_xref="dbSNP:3760471"
variation 6646
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace=""
/replace="a"
/db_xref="dbSNP:3840875"
variation 6953
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="a"
/replace="g"
/db_xref="dbSNP:1043587"
variation 7190
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/replace="c"
/replace="t"
/db_xref="dbSNP:1043592"
polyA_signal 7283..7288
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
polyA_site 7304
/gene="ANKFY1"
/gene_synonym="ANKHZN; BTBD23; ZFYVE14"
/note="The 3'-most polyA site has not been determined.
This is an internal polyA site."
ORIGIN
gcacttctcgcgaggttgcaggcagtgccgggccagacatggcggaagaggaggtggccaagttggagaagcacttgatgcttctgcggcaggagtatgtcaagctgcagaagaagctggcggagacagagaagcgctgcgctctcttggctgcgcaggcaaacaaggagagcagcagcgagtccttcatcagccgtctgctggccatcgtggcagacctctacgagcaggagcagtacagatgctaatcctgaggtgacgatgacaatgcttcgctggatctatacagatgagctggagttcagagaggatgatgtgttcctgactgaactgatgaaactagcaaatcggtttcagctacagctcctcagggagagatgtgagaagggtgttatgtctctagtgaatgtcaggaactgtattcgcttctaccagacggcagaggagctgaatgccagcacactgatgaactactgtgcagaaattattgcaagtcattgggacgacctgaggaaggaggatttcagcagcatgagcgctcagttgttatacaaaatgatcaaatccaagacagagtacccgctacataaagccatcaaagtggagagagaagacgtggtcttcctgtatctgattgaaatggattcccagctccctgggaagctgaatgaagcggatcataacggagatctggcattagatctagccctctcacgacgactggagagtattgccaccacgctggttagtcacaaagctgatgtggacatggtggacaagagtggctggagcttgttacacaaaggaatccaaagaggagatctctttgctgccactttcctcattaagaatggggcctttgtcaacgctgctacactgggtgcccaggagacaccactgcaccttgtggccttgtacagttcaaagaaacactcagcagatgtgatgtctgagatggcgcagattgcagaggcccttctgcaggctggtgccaaccccaacatgcaggacagcaaggggaggactcctttacatgtgtccatcatggccgggaatgaatatgtgttcagtcagctgctgcagtgcaaacaactagatttagaactcaaagaccacgagggcagcacggctctgtggctggcagtgcagcatatcacagtgtcttctgaccagtctgtgaaccccttcgaagatgtccccgtggtaaatgggacttcatttgatgagaacagctttgcagccagactcatccagcgcggcagccacacagacgcacctgacacggcgacaggaaactgtttactacagcgggcagctggagcaggaaacgaggcagcagctcttttcctggcaaccaacggtgcccatgtcaaccacagaaacaagtggggagaaaccccgttgcacacagcgtgtcggcatggcctggccaacctcacggcagagctcctgcagcaaggcgccaacccaaacctgcagacggaggaagctctgcctctgccaaaggaggccgcatccctgaccagcttggcggacagcgtccatctgcagacgccactgcacatggcgatcgcctataaccatccggatgtggtgtctgtcatcctggagcagaaagccaatgctcttcatgccaccaacaacttgcagatcattccggacttcagcctcaaagattcccgagaccagactgtgctgggcctggcattatggactggcatgcacacgatcgcagcccagctgctgggctctggagccgccatcaatgacaccatgtcggatgggcagacgctactgcacatggccatacagcggcaggacagcaagagcgcactcttcctgctggagcaccaggcagatataaatgtcagcaggactcaggacggggagacagccctccagctggccatcagaaaccagcttccactcgtagttgatgccatatgcacccgaggagctgacatgtctgtgccagatgagaaggggaaccccccgctgtggcttgcattggcaaacaatctggaggacatcgcatccactctggtcagacatggctgtgatgccacatgctggggtccgggacctggtgggtgccttcagacgctcctgcacagagccattgatgaaaacaacgagcccaccgcctgctttcttattcgcagtggctgtgacgtgaacagtcccagacaaccaggcgccaatggagaaggagaggaagaggctagagatgggcagacccctttgcatttggcagcctcttgggggctggaagagacagtacagtgtcttctggagtttggtgccaacgtgaacgcacaggatgcagaaggaagaacccccatccacgtggccatcagcagccaacacggtgtcatcattcagctgttggtttctcaccccgatatccatttgaatgtacgagacagacaagggctgaccccgtttgcctgtgccatgactttcaagaacaacaagtcagccgaggccattctcaaacgagagtccggggctgctgagcaggtggataacaagggccggaatttccttcatgtggcagttcagaactctgatattgaaagtgtgctgttcctgatcagtgtccacgctaatgtgaattcaagagtccaggatgcctccaagttgacccccctgcacctcgctgtccaagcaggctcagaaattattgtccgcaatttgcttcttgcgggagccaaagtgaacgaattaaccaagcatcgccagactgccctccatcttgctgcccagcaggacctgcccaccatctgctcagtcctcctagagaatggcgtggactttgctgccgtggatgagaatggaaacaatgctcttcatcttgctgtcatgcacggccggctcaacaacatccgggttctcctgacagagtgcacagtggacgccgaagcctttaatctcagaggccagtcaccactgcacattttgggacaatatggcaaggagaatgcagcggccatctttgatctcttcctagaatgcatgccggggtatcctctggacaagccggatgcagacggcagcacggtgctgctcctggcatacatgaaagggaacgccaacttgtgccgcgccatcgtccggtcgggggctcgcctcggggtgaataacaaccagggagtcaacatcttcaactaccaggtcgccaccaagcagctcctgttccgactgctggatatgctgtccaaggagcctccgtggtgtgacggctcctactgctatgagtgcactgccaggttcggagtcaccactcgcaaacaccactgtcgtcactgcggacgtcttctttgccataaatgctcgaccaaggagattcctattataaagtttgatctgaacaagcctgtgcgggtttgcaacatttgttttgatgtactgactctgggtggggtttcttagtgagccccccggagggtccaggccacgtccttggtcacctccccagcagctgctctgctcaccagcctgaccccacccagagcaggagctggcgggtgtcttcctgcggcaatagactggaacgattaaggaccatggtgtgatagatcccatttcaaatgattccatatgattgtcagtgtgtgtgtcagactgtgatcgatttcactagatgtctcactcatcagaccaggccattgggcctaagtggtaaatgtgattaggaattagacctctccccattctgctagcaacatacagggacacttggaaaaccatttccccttccagtagcttggtgtccatcccagagcattcatgaagtcttcccgcctgggctgactgatgaggcagagcctctcagcgtaggaagctggctgcttaatgagctggctttactctagggtaagtggctgtggacttttctgcacagtgttttcataaagataataggatcctcttgccctgaagtctttttttctttttacgctaagctgtatttttagtgagctaccccttttaaaaaggtgaaatctttcttaacagggttcaaagatgagagctgaaaaatcgtggccttaacaactgaaagctttacagtgttcatgctactgaggtgtcaggagtgcagctgggccgcttgacacctcgtagcagccgtctcattctctcgtcttgctgcgtcctgtctgtggagtcctcagtcactctgctgttggagagtgctggaggaaatgcacttttactgtgctgcactttttatagagctgcattgtcggtgattccaatttaaaaatccatattcaaaaataccctcacacatccctgcatcagtgattctaatgatcagctttgactggacctcagctcacacgaatctccaaggaaaaactctacagagcatcttttagagcaagagattcatacaggccaagtgatgagagggggagtcaccaaggcttcagccccaagggcatctccagcctcaggccggcaggtcctatgtccttgacacaaatgcttcttgctgaaatcctccctagtgatgctgcgagtgctgttggtcccagttctgtgtagcttgccctgccccatgaagggccaccagccaagggccctggccacgtgtgcgccaccttactttggaagtctctggcttgtgtgctggatgaggctgccagaacttgttgggcgttcatcgctgttagtacatatattaaccgtgaggtgttaaacttttcttttgaaggtttggccagtttctaaaaaatgcacatttaaagagaagcatctaccacggctttaaaacaaaacaactctgagatgaacaatatgtgttatactcagagattaacaatctcaatcatacatactgattctttcagacatttaataaccactacatttttttgcattaatgaagtttgactatatgtgtaaagggactaaatatttttgcaacagcctgttctttgttcattcttttctggatagtgtgtcctctgtattgcggtagatttatacattctgttgcctaaatatgtgtgtaaaatgagctgataaactggagtactacttaaaaaaaagtctgtgatttataagatgtatatgctttctatgtgaatataagcttgtgcacaatgtttaaaagaaaaacaatgaattagaagagatcccccgtcccccagtctgacatatttcatacagaatgtttaaaagaaaaactctgctagtcttggcaaacatttggccatgtgaggcatgtggtcagtttccattttctattacctggaaagggccataaggaagcaggcagggcttaggtagcttggttacctaagttagaaagtaagagaatcatgattcggatatgaattgaagtggttggtacatggatacctgttctttaaaaggaatgtgggagatgagtcaagggtgaggccgattgttctgcccatgccctaccataccaatttcaataacaatcttgcctgtcattgcactcagaatcttaagatcatgtttcaaatatgttgattcaaacttgcttctaagcctgagtccagggatagcaatggtactgaccagctatggactgggagaacattgagtcctgttttccattggcttcagggcgcatccatgtggatataggaaaagcctctttccacagacttaggaagccccccgaccacgcggacgctcgctgggctgcactcagcaggctgcttgagtgggagctgactccaacatgccctgccctggctgggactaggcatgcttccagcccttcccgtgctctccctgctgtcaacacttgcgtacaaacctgcctagctgttgtaagttttcatcagtagcttaagtactagtagcaaaaacttaaattcattcagaaagttgccacttctgaatgagtagagcaggaaaagtaaactttactgaaacataatttgctgcaacagtcaacattgttatgctgaatgtgctctcaactgccctttgctcatcgccagatttattatccagtgtattcctaacagtcttttgttgtcgttgtttttaaaacaaaggtacggaccatgtgctatatataaatcgaatggcttaaactaatttgctatgatcctctaacaccgaaatttcccataaacttaagtgcctacacttaggacttttgaactttcagtcatctttttcgtggtgtctcactgaacgatgtgttagaacatgtgttccatttggagttttgggcctgtgcacggtcaaccccaattaccaatttagttgaggctggattcgattgctcagttcacctgccacgttctctccaaggagtggggtctacgtgacctttagtcctctacctcagagccccgagtcatttctgaccaccccgttctgtgtcctcactcttgtccctgaatgggtccctgtgtggatctcagtgtgtgtgtggtttctccactcctccccgctcatgtcccacacctgccatattgaaccgtttctgcactaatcttctccacgggcacggagtggagggaacgtcttgggaaaggggagagcttgacctccatctaggtttcttttatctggagaaaaagaacacttttgaactatgtaatgcttcaccctgaaaggcaagctaacgctaacttcccaggtgacagtagcaggaacaaggaagggtaatgtttccatgacagacacttgcttcccttgggacaagtcccagaagaactacctgaagcaccaaagctccccaccccagcctggtggcagaggaagcaggtggcaccaactcaccaaagggacttgggagccaccttctcactctgtggaagtactttagtgagagctgactggcaagataaaaaccctgaaattcccagaagttacagatgccttaaagactttctttggaagatcattgcctgtactattccttttttgtgtggcataaataatatattaacctgttacaactgacaacattggttttctgcagctagggagtcttgagtcgagactgctcgccttgatgacttgctcttttttggcagatgtgtggagttggctgttacgacatccctgtgtgatcccagaggaggggcagtagctgggcagaaactgcaggcacacatttgggtggatcacctggcttccagccccttcggggtggtgctcagtgtggggtgatggtatcatagaggaccacggcgcttatcagcattgtttctttggagtctgtgtaatggaatgtatttttcaaatactgatatttgcattttctgtaacaattccttataataaaatgaagtaaaattgtgcatttaaagtggaaactttaataagacatttgtagttacttctaatgcagaagtaccaataagcattaaaaacaaattttagaaaactcctgacgtgaataagtttcttgaccagctgccctccagaaagtttgaattccaacatttttcaggaacatgctgttgacagcagtaaaagtagctattttatgtatgtatttttaatttttaaaagtttcagtaggtttttggggttcaggtggtgtttggttacgtgaggttctttagcggtgatttccaggattttggggcacccatcacccaagcagtgtacactggacccttttatccctcaccccaaccctttcccctgagcccccaaagtccactgtatcattcttaatgcctttacgtcctcatggcttagctcccgaaaagtagttattttaaacatactagctgcctgaacttactgtgcccttggcccagatttcagctcatagcaccgagcgtgatcactgaggcagtctcagtcaccgtcacctgacccctctgaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51479 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:51479 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:51479 -> Cellular component: GO:0010008 [endosome membrane] evidence: ISS
GeneID:51479 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
by
@meso_cacase at
DBCLS
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