Type | Description |
---|---|
Definition | cilia and flagella associated protein 43 |
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 |
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
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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