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149465 CFAP57

149465

CFAP57

cilia and flagella associated protein 57

protein-coding

Homo sapiens

基因描述

Type Description
Definition cilia and flagella associated protein 57

研究结论

Date Results Publications
2020-09-26 13:09:00 Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. 32764743
2011-09-24 10:58:00 A missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. 21574244

名称对应

Type IDs
Synonymous VWS2, WDR65
Gene
UniProtKB-ID: CFA57_HUMAN, A0A087WVY5_HUMAN
UniprotKB: Q96MR6, A0A087WVY5
UniParc: UPI000223C368, UPI0001D89705, UPI000013E331
EMBL: BC117306, AK056562, BC117280, AL139138, AC093420
Ensembl: ENSG00000243710
KO: hsa:149465
Nucleutide sequences
EMBL-CDS: BAB71217.1, AAI17281.1, AAI17307.1
Ensembl_TRS: ENST00000528956, ENST00000372492, ENST00000610710
Protein sequencees
Ensembl_PRO: ENSP00000435310, ENSP00000361570, ENSP00000479773
RefSeq: NP_001365118.1, XP_011539095.1, XP_016855911.1, NP_689711.2, XP_016855910.1, XP_011539096.1, XP_011539101.1, XP_011539100.1, NP_001161437.1, XP_011539099.1, XP_011539098.1, XP_011539097.1, XP_006710446.1, NP_001182760.2, XP_011539102.1
Others
UniRef100: UniRef100_A0A087WVY5, UniRef100_Q96MR6
UniRef90: UniRef90_Q96MR6, UniRef90_A0A6J3FC53
UniRef50: UniRef50_Q96MR6
UniGene: Hs.527565, Hs.735676, Hs.738994
CCDS: CCDS479.1

全选

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