CFAP91
entrez
89876
canonical
uniprot
Q7Z4T9
canonical
ensembl
ENSG00000183833
resolver
ensembl
ENSG00000285585
resolver
ensp
ENSP00000273390
resolver
genesymbol
CFAP91
resolver
genesymbol_syn
AAT1
resolver
genesymbol_syn
C3orf15
resolver
genesymbol_syn
MAATS1
resolver
hgnc
HGNC:24010
resolver
uniprot
A0AVK2
resolver
uniprot
A8K1J9
resolver
uniprot
B3KP23
resolver
uniprot
B4DG52
resolver
uniprot
B4DZ14
resolver
uniprot
C9JUG4
resolver
uniprot
Q68DX2
resolver
uniprot
Q8TD41
resolver
uniprot
Q96A45
resolver
uniprot
Q96JE8
resolver
uniprot_entry
CFA91_HUMAN
resolver
uniprot_sec
A0AVK2
resolver
uniprot_sec
A8K1J9
resolver
uniprot_sec
B3KP23
resolver
uniprot_sec
B4DG52
resolver
uniprot_sec
B4DZ14
resolver
uniprot_sec
C9JUG4
resolver
uniprot_sec
Q68DX2
resolver
uniprot_sec
Q8TD41
resolver
uniprot_sec
Q96A45
resolver
uniprot_sec
Q96JE8
resolver
amino_acid_sequence
MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRLRKVPRFKTMFSNLIHYPRYSLYWSKSDPVPPFISREWKGHKEKHREALRQLTTTDASFQMPKEVYEDPEVTGKNRYKYFERPFLPFFQQMPFNVVYAVSKAEPYTFPPTSTKHLSIPSKSTVGTQTDYRDADVQTDPYSAEYVVCQDSIPELLTLATLTWGRGLPAGQAEVEMIERAREKRAWEASLPALSDTSQFEKRRKMMNEMERKEWAFREQEIEKLQEIRLEVLKELLRKREENQNEVNMKHLNARWSKLQEGKEAKMAKIQRTHVSTIRKLVGKRKNIEGKLERRNIIKDYSDYASQVYGPLSRLGCFPDNNSEDFVVKNYYLNTYEGLVELESCLPDFVTQPQIRAPKPKVITTKAGFLKRAARLDYELAEVHKALLDKKNKVLEVKKPPRFLQRNPIPQPRLPTPTLEMTSNEEEEMEMAVIYLQKLLRGRVVQNMMFEGKEKRLELIQELRTCHALQEDEKLVKKAEKQVTLALQRQRNLHEHKVSLVENHLAGLEGRALADMFDFLSKELVRLQEERRIHAFVMLAERQRRVREAEESGRRQVEKQRLREEDEIFKEVVKVHHSTISSYLEDIILNTEANTAEEQARAEIEKMAEKINDIAYEMESRRTYLQSEEIVAELVYSFLIPEVQKYFVKEKVRNAQRKHILAAHQIIHSYTESMVQKKLTEGEQDEASNAAMLLEKETQNENNS
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 51 (SPGF51) [MIM:619177]: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, including absent, short, bent, coiled and irregular-caliber flagella. Abnormalities of the sperm head, base, and acrosome have also been observed. {ECO:0000269|PubMed:32161152}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in sperm flagellum axonemal organization and function (PubMed:12223483, PubMed:32161152). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity). {ECO:0000250|UniProtKB:A8IH47, ECO:0000269|PubMed:12223483, ECO:0000269|PubMed:32161152}.
uniprot
proteins
mass_dalton
89955
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKA. {ECO:0000269|PubMed:12223483}.
uniprot
proteins
protein_family
CFAP91 family
uniprot
proteins
pubmed
12223483
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15863901
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
32161152
uniprot
proteins
sequence_length
767
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12223483, ECO:0000269|PubMed:15863901}. Cytoplasm {ECO:0000269|PubMed:12223483, ECO:0000269|PubMed:15863901}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8IH47}. Note=Localized in the neck of the sperm.; SUBCELLULAR LOCATION: [Isoform 7]: Cytoplasm {ECO:0000269|PubMed:15863901}.
uniprot
proteins