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132320 SCLT1

132320

SCLT1

sodium channel and clathrin linker 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition sodium channel and clathrin linker 1

研究结论

Date Results Publications
2019-10-26 12:52:00 Study results indicate a genome-wide significant association between total alcohol use disorders identification test score in a trauma-exposed cohort and rs1433375, an intergenic single-nucleotide polymorphism located 323 kb upstream of the sodium channel and clathrin linker 1 at 4q28. 29082582
2014-08-09 11:38:00 study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis 24285566
2014-07-15 12:22:00 Functional study in rat suggests that CAP-1A links clathrin and a sodium channel. 15797711

名称对应

Type IDs
Synonymous CAP-1A, CAP1A
Gene
UniProtKB-ID: SCLT1_HUMAN, D6RBA6_HUMAN
UniprotKB: Q96NL6, D6RBA6
UniParc: UPI0000140599, UPI0000DBDD8E, UPI0000F70508, UPI000013DC5F, UPI000020B45F
EMBL: AC093826, BC121057, BC128051, AC093783, CH471056, BC064428, BC121058, AK055217
Ensembl: ENSG00000151466
KO: hsa:132320
Nucleutide sequences
EMBL-CDS: AAI28052.1, EAX05167.1, BAB70876.1, AAI21058.1, AAH64428.1, AAI21059.1
Ensembl_TRS: ENST00000511426, ENST00000439369, ENST00000281142, ENST00000506368
Protein sequencees
Ensembl_PRO: ENSP00000395292, ENSP00000281142, ENSP00000420861, ENSP00000424304
RefSeq: XP_016863209.1, NP_653244.2, XP_016863208.1, XP_016863210.1, XP_016863206.1, NP_001287827.1, XP_016863205.1, NP_001287826.1, XP_016863207.1
Others
UniRef100: UniRef100_D6RBA6, UniRef100_Q96NL6
UniRef90: UniRef90_Q96NL6, UniRef90_D6RBA6
UniRef50: UniRef50_Q8CJ99, UniRef50_D6RBA6
UniGene: Hs.654690
CCDS: CCDS3740.1, CCDS77958.1

全选

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