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285025 CCDC141

285025

CCDC141

coiled-coil domain containing 141

protein-coding

Homo sapiens

基因描述

Type Description
Definition coiled-coil domain containing 141

研究结论

Date Results Publications
2020-08-22 15:28:00 Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism. 32520725
2017-09-16 11:04:00 These studies confirm that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome . 28324054
2017-07-29 10:22:00 report of a CCDC141 mutation as a new example of genetic aberration associated with Kallmann Syndrome 27014940
2011-01-29 10:36:00 CAMDI is required for radial migration probably through DISC1 and myosin II-mediated centrosome positioning during neuronal development. 20956536
2009-08-12 21:34:00 Observational study of gene-disease association. (HuGE Navigator) 19536175

名称对应

Type IDs
Synonymous CAMDI
Gene
UniProtKB-ID: CC141_HUMAN, B8ZZB3_HUMAN
UniprotKB: Q6ZP82, B8ZZB3
UniParc: UPI0000E07C0A, UPI0000160B54, UPI0000EE2F1C
EMBL: BC115378, AK129847, AK096821, AC092640, AC093792, AC023270, CH471058
Ensembl: ENSG00000163492
KO: hsa:285025
Nucleutide sequences
EMBL-CDS: EAX11011.1, AAI15379.1, BAC04869.1, BAC85242.1, AAX88845.1, EAX11012.1
Gene_ORFName: hCG_22663
Ensembl_TRS: ENST00000443758, ENST00000409284
Protein sequencees
Ensembl_PRO: ENSP00000390190, ENSP00000386503
RefSeq: XP_011509293.1, XP_011509294.1, XP_016859357.1, XP_016859358.1, XP_016859359.1, XP_011509295.1, NP_001303674.1, XP_016859360.1, XP_016859356.1, NP_775919.3
Others
UniRef100: UniRef100_B8ZZB3, UniRef100_Q6ZP82
UniRef90: UniRef90_Q6ZP82, UniRef90_B8ZZB3
UniRef50: UniRef50_Q8BLD3, UniRef50_Q6ZP82
UniGene: Hs.324341

全选

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