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80217 CFAP43

80217

CFAP43

cilia and flagella associated protein 43

protein-coding

Homo sapiens

基因描述

Type Description
Definition cilia and flagella associated protein 43

研究结论

Date Results Publications
2021-04-03 13:30:00 Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella. 32207550
2020-05-02 12:05:00 important cause of multiple morphological abnormalities of the sperm flagellum in the Chinese population 30904354
2020-01-04 10:16:00 A loss of function mutation was identified in a family with normal-pressure hydrocephalus. 31004071
2019-04-20 12:15:00 Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF. 29277146
2018-09-22 10:49:00 demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human 29449551

名称对应

Type IDs
Synonymous C10orf79, SPGF19, WDR96, bA373N18.2
Gene
UniProtKB-ID: CFA43_HUMAN, Q5TA04_HUMAN
UniprotKB: Q8NDM7, Q5TA04
UniParc: UPI0001D1473B, UPI0001D1473C, UPI00004049D5, UPI0001D1473E, UPI0001D1473D, UPI0000D60FC7
EMBL: AL833836, CH471066, AK026597, AL357336, AK093325, AL136901, BC036647, AL139341
Ensembl: ENSG00000197748
KO: hsa:80217
Nucleutide sequences
EMBL-CDS: BAC04133.1, CAD38696.1, BAB15506.1, CAB66835.1, AAH36647.2, EAW49605.1
Ensembl_TRS: ENST00000357060, ENST00000278064
Protein sequencees
Ensembl_PRO: ENSP00000349568, ENSP00000278064
RefSeq: XP_016872171.1, NP_079421.5, XP_024303946.1, XP_016872173.1, XP_011538502.1, XP_005270228.1, XP_005270229.1, XP_011538501.1, XP_016872170.1, XP_011538504.1, XP_011538499.1, XP_011538498.1, XP_011538503.1, XP_024303945.1, XP_011538500.1
Others
UniRef100: UniRef100_Q8NDM7, UniRef100_Q5TA04
UniRef90: UniRef90_Q8NDM7-3, UniRef90_Q8NDM7
UniRef50: UniRef50_Q8NDM7-3, UniRef50_Q8NDM7
UniGene: Hs.288927
CCDS: CCDS31281.1

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