CFAP70
entrez
118491
canonical
uniprot
Q5T0N1
canonical
ensembl
ENSG00000156042
resolver
ensp
ENSP00000310829
resolver
ensp
ENSP00000347781
resolver
ensp
ENSP00000510588
resolver
enst
ENST00000310715
resolver
enst
ENST00000355577
resolver
enst
ENST00000686590
resolver
genesymbol
CFAP70
resolver
genesymbol_syn
TTC18
resolver
hgnc
HGNC:30726
resolver
uniprot
A0A087WSW1
resolver
uniprot
A0A8I5KZ08
resolver
uniprot
A0A8J8YUN0
resolver
uniprot
C9JIZ9
resolver
uniprot
Q5T0M4
resolver
uniprot
Q5T0M9
resolver
uniprot
Q5T0N0
resolver
uniprot
Q69YH9
resolver
uniprot
Q8IYZ8
resolver
uniprot
Q8N7D5
resolver
uniprot
Q8NI30
resolver
uniprot
Q8NI31
resolver
uniprot_entry
A0A087WSW1_HUMAN
resolver
uniprot_entry
A0A8I5KZ08_HUMAN
resolver
uniprot_entry
A0A8J8YUN0_HUMAN
resolver
uniprot_entry
CFA70_HUMAN
resolver
uniprot_sec
C9JIZ9
resolver
uniprot_sec
Q5T0M4
resolver
uniprot_sec
Q5T0M9
resolver
uniprot_sec
Q5T0N0
resolver
uniprot_sec
Q69YH9
resolver
uniprot_sec
Q8IYZ8
resolver
uniprot_sec
Q8N7D5
resolver
uniprot_sec
Q8NI30
resolver
uniprot_sec
Q8NI31
resolver
amino_acid_sequence
MEQVPSAGRLVQITVTEGYDLKGFKGDTPVTFIRAEFNQVVLGDSAKITVSPEGSAKYNFTSSFEFNPEGGITSDDLAHKPVFLTVTEVLPKEKKQKEEKTLILGQAVVDLLPLLEGQSSFQTTVPLHPVQGSPLETPRSSAKQCSLEVKVLVAEPLLTTAQISGGNLLKVTLEAAYSVPESFIPTGPGQNYMVGLQVPSLGEKDYPILFKNGTLKLGGEREPVPRPKKWPIANILAPGANNIPDAFIVGGPYEEEEGELNHPEDSEFRNQAECIKKRIIWDLESRCYLDPSAVVSFQKRIADCRLWPVEITRVPLVTIPKGKAGKTEKTDEEAQLSFHGVAYVNMVPLLYPGVKRIRGAFHVYPYLDSVVHEKTKCLLSLFRDIGHHLIHNNKIGGINSLLSKQAVSKNLKEDKPVKEKDIDGRPRPGDVQAPSIKSQSSDTPLEGEPPLSHNPEGQQYVEAGTYIVLEIQLDKALVPKRMPEELARRVKEMIPPRPPLTRRTGGAQKAMSDYHIQIKNISRAILDEYYRMFGKQVAKLESDMDSETLEEQKCQLSYELNCSGKYFAFKEQLKHAVVKIVRDKYLKTTSFESQEELQTFISELYVFLVDQMHVALNQTMPDDVQGTVATIYTSSEQLQLFAFEAEVNENFEMAAAYYKERLVREPQNLDHWLDYGAFCLLTEDNIKAQECFQKALSLNQSHIHSLLLCGVLAVLLENYEQAEIFFEDATCLEPTNVVAWTLLGLYYEIQNNDIRMEMAFHEASKQLQARMLQAQVTKQKSTGVEDTEERGKRESSLGPWGITNGSATAIKVEAPAGPGAALSILDKFLEESSKLQSDSQEPILTTQTWDPSISQKPSNTFIKEIPTKKEASKCQDSSALLHPGLHYGVSQTTTIFMETIHFLMKVKAVQYVHRVLAHELLCPQGGPSCEYYLVLAQTHILKKNFAKAEEYLQQAAQMDYLNPNVWGLKGHLYFLSGNHSEAKACYERTISFVVDASEMHFIFLRLGLIYLEEKEYEKAKKTYMQACKRSPSCLTWLGLGIACYRLEELTEAEDALSEANALNNYNAEVWAYLALVCLKVGRQLEAEQAYKYMIKLKLKDEALLAEIHTLQETVGFGNPSF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 41 (SPGF41) [MIM:618670]: An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. {ECO:0000269|PubMed:31621862, ECO:0000269|PubMed:37352829}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length. Essential for the assembly of the sperm flagellum and the correct shaping of the sperm head, during spermiogenesis.Contributes in part to flagellar biogenesis by stabilizing QRICH2, promoting the cytoplasmic preassembly of CFAP61 and CFAP91, and regulating the manchette localization of axoneme-associated proteins such as IFT88, DNAI1 and CFAP61. {ECO:0000250|UniProtKB:D3YVL2}.
uniprot
proteins
mass_dalton
125721
uniprot
proteins
protein_family
CFAP70 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
31621862
uniprot
proteins
pubmed
37352829
uniprot
proteins
pubmed
37934199
uniprot
proteins
sequence_length
1121
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:31621862, ECO:0000269|PubMed:37934199}. Cytoplasm, cytoskeleton, flagellum basal body {ECO:0000269|PubMed:31621862}. Cell projection, cilium {ECO:0000250|UniProtKB:D3YVL2}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:D3YVL2}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:D3YVL2}. Note=Present all along the flagellum, with a marked signal at the base of the flagellum (PubMed:31621862). Localizes to the central apparatus of the flagellar axoneme (By similarity). {ECO:0000250|UniProtKB:D3YVL2, ECO:0000269|PubMed:31621862}.
uniprot
proteins