CFAP61 (cilia and flagella associated protein 61)

2014-11-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
C20orf26,CaM-IP3,dJ1002M8.3,dJ1178H5.4
FUSION GENES

Other Information

Locus ID:

NCBI: 26074
HGNC: 15872
Ensembl: ENSG00000089101

Variants:

dbSNP: 26074
ClinVar: 26074
TCGA: ENSG00000089101
COSMIC: CFAP61

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089101ENST00000245957Q8NHU2
ENSG00000089101ENST00000340348F8W6E2
ENSG00000089101ENST00000377293Q8NHU2
ENSG00000089101ENST00000377303C9JHE8
ENSG00000089101ENST00000377306Q8NHU2
ENSG00000089101ENST00000377308Q8NHU2
ENSG00000089101ENST00000389656Q8NHU2
ENSG00000089101ENST00000431753H0Y3Y7
ENSG00000089101ENST00000442372C9JA66
ENSG00000089101ENST00000451767Q8NHU2
ENSG00000089101ENST00000472660C9JMV0
ENSG00000089101ENST00000475466C9J610
ENSG00000089101ENST00000494029F8WDF5

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387759942024Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.0
387759942024Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.0
353878022023Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.8
379828952023CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway.0
353878022023Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.8
379828952023CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway.0
347920972021CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.18
347920972021CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.18
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

CFAP61 (cilia and flagella associated protein 61)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61763/cfap61-(cilia-and-flagella-associated-protein-61)