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2024-04-20 02:51:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270383 3312 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens enkurin, TRPC channel interacting protein (ENKUR),
transcript variant 2, mRNA.
ACCESSION NM_001270383
VERSION NM_001270383.1 GI:393281725
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 3312)
AUTHORS Beech,D.J.
TITLE Canonical transient receptor potential 5
JOURNAL Handb Exp Pharmacol 179, 109-123 (2007)
PUBMED 17217053
REMARK Review article
REFERENCE 2 (bases 1 to 3312)
AUTHORS Sutton,K.A., Jungnickel,M.K., Wang,Y., Cullen,K., Lambert,S. and
Florman,H.M.
TITLE Enkurin is a novel calmodulin and TRPC channel binding protein in
sperm
JOURNAL Dev. Biol. 274 (2), 426-435 (2004)
PUBMED 15385169
REMARK GeneRIF: Data suggest that enkurin is an adaptor that functions to
localize a Ca2+ sensitive signal transduction machinery in sperm to
a Ca2+-permeable ion channel [enkurin]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL512598.11, CR936720.1,
AK095021.1 and BM979174.1.
Summary: This gene encodes a protein that interacts with calmodulin
and several transient receptor potential canonical cation channel
proteins. The encoded protein may function as an adaptor to
localize signal transduction machinery to calcium channels.
Alternative splicing results in multiple transcript variants.
[provided by RefSeq, Jun 2012].
Transcript Variant: This variant (2) contains an alternate exon
structure in the 5' UTR, lacks a portion of the 5' coding region,
and initiates translation at an alternate start codon, compared to
variant 1. The encoded isoform (2) has a distinct N-terminus and is
shorter than isoform 1.
##Evidence-Data-START##
Transcript exon combination :: CR936720.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084, ERS025086 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-13 AL512598.11 121596-121608 c
14-517 CR936720.1 14-517
518-3286 AK095021.1 550-3318
3287-3312 BM979174.1 1-26 c
FEATURES Location/Qualifiers
source 1..3312
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10p12.1"
gene 1..3312
/gene="ENKUR"
/gene_synonym="C10orf63"
/note="enkurin, TRPC channel interacting protein"
/db_xref="GeneID:219670"
/db_xref="HGNC:28388"
/db_xref="MIM:611025"
exon 1..98
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(2)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:191565639"
variation complement(13)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:902906"
variation complement(33)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:187364895"
variation complement(34..35)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace=""
/replace="aa"
/db_xref="dbSNP:138782473"
exon 99..356
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(148)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:139724986"
variation complement(149)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:55740430"
variation complement(160)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:150567171"
variation complement(176)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:141753573"
variation complement(206)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:182996287"
variation complement(219)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:190850531"
variation complement(222)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:111240000"
variation complement(244)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:185982463"
variation complement(256)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:147444170"
variation complement(272)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:55694736"
variation complement(273)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:181297004"
misc_feature 287..289
/gene="ENKUR"
/gene_synonym="C10orf63"
/note="upstream in-frame stop codon"
CDS 320..904
/gene="ENKUR"
/gene_synonym="C10orf63"
/note="isoform 2 is encoded by transcript variant 2"
/codon_start=1
/product="enkurin isoform 2"
/protein_id="NP_001257312.1"
/db_xref="GI:393281726"
/db_xref="GeneID:219670"
/db_xref="HGNC:28388"
/db_xref="MIM:611025"
/translation="
MKTERVTGGGSPEKNFDRNVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICKRNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIPKKIRKQRLEEEMKQLEHDIGIIEKHKIIYIANNA
"
misc_feature 587..844
/gene="ENKUR"
/gene_synonym="C10orf63"
/note="Calmodulin-binding; Region: Enkurin; pfam13864"
/db_xref="CDD:206035"
exon 357..580
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(376)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:148926069"
variation complement(377)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:191676786"
variation complement(396)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="g"
/replace="t"
/db_xref="dbSNP:201770433"
variation complement(431)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:376037323"
variation complement(444..445)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace=""
/replace="t"
/db_xref="dbSNP:34298805"
variation complement(476)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:147915433"
variation complement(501)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:201635361"
variation complement(505)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="g"
/replace="t"
/db_xref="dbSNP:144669094"
variation complement(520)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:139671767"
variation complement(571)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:147396455"
exon 581..727
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(589)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:140156986"
variation complement(620)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:369720464"
variation complement(622)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="g"
/replace="t"
/db_xref="dbSNP:201936223"
variation complement(624)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:377234789"
variation complement(653)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:372214436"
variation complement(661)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:201143784"
variation complement(663)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:147531808"
variation complement(664)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:139648125"
variation complement(694)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:150585487"
variation complement(700)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:199875445"
variation complement(701)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:367769430"
variation complement(725)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:201664070"
exon 728..897
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(778)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:201909752"
variation complement(784)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:141651847"
variation complement(805)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:137882461"
variation complement(809)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:200773323"
variation complement(810)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:115177998"
variation complement(818)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:33980615"
variation complement(844)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:368417441"
variation complement(878)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:199886037"
variation complement(887)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:138973825"
exon 898..3295
/gene="ENKUR"
/gene_synonym="C10orf63"
/inference="alignment:Splign:1.39.8"
variation complement(944)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:370276776"
variation complement(960)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:79560443"
variation complement(1059)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:61462347"
variation complement(1176)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:138661411"
variation complement(1179)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:190630512"
variation complement(1216)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:112970617"
variation complement(1281)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:184470144"
variation complement(1391)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:144893250"
variation complement(1519)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:180840520"
variation complement(1554)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:116056901"
variation complement(1572)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:79969885"
variation complement(1690)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:79500795"
variation complement(1786)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:74832373"
variation complement(1807)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:147987955"
variation complement(1831)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:188025204"
variation complement(1832)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:143428740"
variation complement(1850)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:368808369"
variation complement(1894)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:184079612"
variation complement(1915)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="g"
/db_xref="dbSNP:75915890"
variation complement(2017)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:115568418"
variation complement(2032)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="g"
/replace="t"
/db_xref="dbSNP:376176649"
variation complement(2085)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:191478560"
variation complement(2174)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:41279880"
variation complement(2467)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:73608206"
variation complement(2560)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:116003633"
variation complement(2651)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:148820356"
variation complement(2796)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:145526714"
variation complement(2807)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:80214638"
variation complement(2867)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="c"
/db_xref="dbSNP:145865909"
variation complement(2910)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:187398361"
variation complement(2933)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:2307047"
variation complement(2978)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:141791091"
variation complement(3014)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="g"
/db_xref="dbSNP:185237523"
variation complement(3080)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="c"
/replace="t"
/db_xref="dbSNP:368160382"
variation complement(3192)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:193147134"
variation complement(3217)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace="a"
/replace="t"
/db_xref="dbSNP:74773322"
polyA_signal 3265..3270
/gene="ENKUR"
/gene_synonym="C10orf63"
variation complement(3275..3276)
/gene="ENKUR"
/gene_synonym="C10orf63"
/replace=""
/replace="g"
/db_xref="dbSNP:34955994"
polyA_site 3295
/gene="ENKUR"
/gene_synonym="C10orf63"
ORIGIN
cccttaagagaggaacactggtggaaaagtgacaagagagcaacaagtcctacttgctcaagaagagaatgactcaatacgcaggattaggcttatagagcccatgaagcaaaatggaacagaaggagctgcacccaacagagcaggcggctggaggagcggcacaagaaagcctgggataaagttgattttccatatctggatgtgtctggcagcatcaaccatatagctgcaaaccagggtcgatttcaaagcccagggcctggccacacgtgtccaacacctatgaacttcttatggagattgttcaccacggagcatgaagacagagcgggtgactggaggtggctccccagaaaaaaactttgatcggaacgtgcccaaaaagcctgctgtgccattgaagactgatcatcctgtcatgggaatacagagtggaaaaaattttataaatacaaatgcagctgatatcatcatgggagtggctaaaaagcctaaaccaatttatgttgataaaagaactggagacaagcatgatcttgagccttcaggactagttccaaagtacatcaataaaaaggattatggtgtcacacctgaatacatatgtaagcgaaacgaggaaataaagaaagcccaagaagactatgatcgttatatccaggaaaaccttaagaaagcagctatgaaaaggctctccgatgaagaaagggaggcagttttgcaggggctgaaaaagaactgggaagaggtgcataaagaattccagtccctctcggtctttatagattctataccaaagaagatccgcaagcagaggctggaagaagaaatgaaacaactagaacacgacattggcataattgaaaagcacaagattatttatattgccaataacgcatgataccaacagcacaactttgaaaactgttaagtattttgaactggaaatagtaacacgtgccttcttgctactctaaactgtctccaacacattgtttctgagctccacaaatgcaaaagatgtattttcctgtggcccatgacatttgcagttattcccagtgagaaatattttcagtattcgtaacactgtatatgatgaaaggcttctatttggaggaagaaaaattaagaagacaacttacaaaatcaagatgacaacttataaaggcatcattgaggatgattaaggagaatagcctcctttctagcataccaacctcgatactcttattttattccacaactcactatgcatatcttatttaaatgtttttttccttttggtcctttctacttatctattttgtgaattctaaagttacatttgtaagattacataatctattaagcaataagtttatgttagtagagctgttttcaacccaaaaataagaaaaaatagctctaaatatctaaaaggaaaaggttattttatgaaattttaaattagaaaaatttggtaaaatatatgcaactataaaatatcagagaaataacaatttctactgcttacactggtttttatcctctggacaacataaaaaacaaaatatgggagtctttcaggcttttttcacaaacacagaatttggaagccttatagaaaagcttattttggttacttaaagaaaagtagtttatatacaattattttttgaaaattcacttgaaacttgtccatatgagtatctttattcctttattaacttagggcagatataaaataaaggataatatatgacaaattctcacttaccaagaatggttggttgctatttagggtaggctaacagctgtgacagtacactccaaaatgtataattacgtaaacacatattcaattcttgctaacatagcagtactttgctgtgagcaggtcagcaggaacccttttctgcagtcactcagggacccagacttacagagtgggtaggatgcatctgatccagagttagggagaggcacgtacaggccaggcctagaaatgatgcatatcattcccgtttgcatcgctaagtaagcaacttaagttgctttaacaaactaactccaaatctcagtttcctgataaagatacatttttcatttacatcactgtgcaatgtgactaagggtaggggtataagtctgttccatgcagtcactcagggacccagtctccttttgtctggtgactctgttgatccaggcagtctttctctgccaattcaggatgagatgtttaggtaagtattttatttgtgaaatgattgctatacatactcatttttaaataattcaaaatcagtagcaatgcaaaaatattctgattactttagccttatggatattatgctttgaagtcatgagtgggagttgccttaaatgttaaaatgaaaactttgtggttttaacagctaattcttttgctttctgtaaatgtctactaaagaatctagacttttctctatggtctacagtgttgtcctagatgaacattgttgcctttctttcacagagccttcagagggaaacattcccatccattgttcctggaaaggtgatccctaccacgggatcccaaacttggatagagccagttcaacctcccccaatccatacacatacatacctaggtcatcctatcacccaaaagagggacaaacatctgacttggacagctgaccagtgactgatcagattctctctctcttgagagcatgaattaagagacatggagactgcagtcacttgggagtagacacctgaaactaaaaagtcaaacttcattatgcagctagtttgacttggtttctcttcctgttcaaaggaagaatgggtagaataaagatttgatgtggtctggccccttgtctatgatctttttagcttgatttcttgaaatgctgcttcttccctacccactgtaactggcattcccatagtactgaggtactagagacctctgagatctgcacacatggttccctccacccagaaaactgcccttttctttctctcatcctacatagctgcctggcaaatccctagtcttcatcagctcacatcacatttccatgacaatcccctttgattcctcagaatctggccttcctttatagcactggtcatattgtattgtgcatatctggttatttgcctgttttccatgaacatttcaagcttatgggggagaagacactgtatacattttcatctgcattccttagaatctgcataacagctggtatagagaaggtactcaaaaaatccttaatgaataaagtaatggatcgtacccaaacatgtaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:219670 -> Molecular function: GO:0005516 [calmodulin binding] evidence: IEA
GeneID:219670 -> Molecular function: GO:0017124 [SH3 domain binding] evidence: IEA
GeneID:219670 -> Cellular component: GO:0005929 [cilium] evidence: IEA
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