CFAP206
entrez
154313
canonical
uniprot
Q8IYR0
canonical
ensembl
ENSG00000213204
resolver
ensembl
ENSG00000272514
resolver
ensp
ENSP00000358575
resolver
ensp
ENSP00000426769
resolver
ensp
ENSP00000577046
resolver
ensp
ENSP00000588112
resolver
enst
ENST00000369562
resolver
enst
ENST00000507897
resolver
enst
ENST00000906987
resolver
enst
ENST00000918053
resolver
genesymbol
CFAP206
resolver
genesymbol_syn
C6orf165
resolver
hgnc
HGNC:21405
resolver
uniprot
A8K969
resolver
uniprot
E1P507
resolver
uniprot
Q8N771
resolver
uniprot
Q8N9U4
resolver
uniprot_entry
CF206_HUMAN
resolver
uniprot_entry
Q8N771_HUMAN
resolver
uniprot_sec
A8K969
resolver
uniprot_sec
E1P507
resolver
uniprot_sec
Q8N9U4
resolver
amino_acid_sequence
MPPTQAESVIRSIIREIGQECAAHGEIVSETLIAFMVKAVVLDPSNGFNMDRTLMKSDVQNLVKLCMTRLLDTKNPSLDTIKMQVYFDMNYTNRVEFLEEHHRVLESRLGSVTREITDNRACAKEELESLYRKIISYVLLRSGLGSPTDIKTVREVTAALQSVFPQAELGTFLTLSKKDKERQLKELTMIVTGIRLFNRDCGKGGEGIDDLPAVLHVAIPATMQHIDYQLETARSQVYRYTAILEKAANDPLMRAELQPYMLKEALYNIRQYEVFLQIILSDIITGAQEVEMMTKQLGAHLEQLKMTIKSKIAVPTSQVFPIFIALSTLWTSLQDETIVVGVLSNLFTHIQPFLGAHELYFPERVMQCHLNGATVKTDVCRMKEHMEDRVNVADFRKLEWLFPETTANFDKLLIQYRGFCAYTFAATDGLLLPGNPAIGILKYKEKYYTFNSKDAAYSFAENPEHYIDIVREKAKKNTELIQLLELHQQFETFIPYSQMRDADKHYIKPITKCESSTQTNTHILPPTIVRSYEWNEWELRRKAIKLANLRQKVTHSVQTDLSHLRRENCSQVYPPKDTSTQSMREDSTGVPRPQIYLAGLRGGKSEITDEVKVNLTRDVDET
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 102 (SPGF102) [MIM:621387]: An autosomal recessive, male infertility disorder characterized by reduced concentration of sperm, and immotile sperm due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella. {ECO:0000269|PubMed:34255152}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for sperm motility and is involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract (By similarity). Required for the establishment of radial spokes in sperm flagella (PubMed:34255152). {ECO:0000250|UniProtKB:Q6PE87, ECO:0000269|PubMed:34255152}.
uniprot
proteins
mass_dalton
71193
uniprot
proteins
protein_family
CFAP206 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
34255152
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q6PE87}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6PE87}.
uniprot
proteins