CFAP65
entrez
255101
canonical
uniprot
Q6ZU64
canonical
ensembl
ENSG00000181378
resolver
ensp
ENSP00000295729
resolver
ensp
ENSP00000340776
resolver
ensp
ENSP00000386258
resolver
ensp
ENSP00000386945
resolver
ensp
ENSP00000413377
resolver
enst
ENST00000441968
resolver
genesymbol
CFAP65
resolver
genesymbol_syn
CCDC108
resolver
hgnc
HGNC:25325
resolver
uniprot
A2BDD8
resolver
uniprot
B4DYZ8
resolver
uniprot
B4DZ05
resolver
uniprot
E9PCR1
resolver
uniprot
E9PG25
resolver
uniprot
E9PG72
resolver
uniprot
Q49A14
resolver
uniprot
Q6ZSR8
resolver
uniprot
Q8N0T4
resolver
uniprot
Q8NDJ3
resolver
uniprot_entry
B4DYZ8_HUMAN
resolver
uniprot_entry
B4DZ05_HUMAN
resolver
uniprot_entry
CFA65_HUMAN
resolver
uniprot_entry
Q49A14_HUMAN
resolver
uniprot_sec
A2BDD8
resolver
uniprot_sec
E9PCR1
resolver
uniprot_sec
E9PG25
resolver
uniprot_sec
E9PG72
resolver
uniprot_sec
Q6ZSR8
resolver
uniprot_sec
Q8N0T4
resolver
uniprot_sec
Q8NDJ3
resolver
amino_acid_sequence
MFTLTGCRLVEKTQKVENPSVSFASSFPLIPLLLRGKSVQKKQAESKSQIKLHTQSAPFGLCPKDMMLTQAPSSVVRSRNSRNHTVNSGGSCLSASTVAIPAINDSSAAMSACSTISAQPASSMDTQMHSPKKQERVNKRVIWGIEVAEELHWKGWELGKETTRNLVLKNRSLKLQKMKYRPPKTKFFFTVIPQPIFLSPGITLTLPIVFRPLEAKEYMDQLWFEKAEGMFCVGLRATLPCHRLICRPPSLQLPMCAVGDTTEAFFCLDNVGDLPTFFTWEFSSPFQMLPATGLLEPGQASQIKVTFQPLTAVIYEVQATCWYGAGSRQRSSIQLQAVAKCAQLLVSIKHKCPEDQDAEGFQKLLYFGSVAVGCTSERQIRLHNPSAVNAPFRIEISPDELAEDQAFSCPTAHGIVLPGEKKCVSVFFHPKTLDTRTVDYCSIMPSGCASKTLLKVVGFCRGPAVSLQHYCVNFSWVNLGERSEQPLWIENQSDCTAHFQFAIDCLESVFTIRPAFGTLVGKARMTLHCAFQPTHPIICFRRVACLIHHQDPLFLDLMGTCHSDSTKPAILKPQHLTWYRTHLARGLTLYPPDILDAMLKEKKLAQDQNGALMIPIQDLEDMPAPQYPYIPPMTEFFFDGTSDITIFPPPISVEPVEVDFGACPGPEAPNPVPLCLMNHTKGKIMVVWTRRSDCPFWVTPESCDVPPLKSMAMRLHFQPPHPNCLYTVELEAFAIYKVLQSYSNIEEDCTMCPSWCLTVRARGHSYFAGFEHHIPQYSLDVPKLFPAVSSGEPTYRSLLLVNKDCKLLTFSLAPQRGSDVILRPTSGLVAPGAHQIILICTYPEGSSWKQHTFYLQCNASPQYLKEVSMYSREEPLQLKLDTHKSLYFKPTWVGCSSTSPFTFRNPSRLPLQFEWRVSEQHRKLLAVQPSRGLIQPNERLTLTWTFSPLEETKYLFQVGMWVWEAGLSPNANPAATTHYMLRLVGVGLTSSLSAKEKELAFGNVLVNSKQSRFLVLLNDGNCTLYYRLYLEQGSPEAVDNHPLALQLDRTEGSMPPRSQDTICLTACPKQRSQYSWTITYSLLSHRDNKAGEKQELCCVSLVAVYPLLSILDVSSMGSAEGITRKHLWRLFSLDLLNSYLERDPTPCELTYKVPTRHSMSQIPPVLTPLRLDFNFGAAPFKAPPSVVFLALKNSGVVSLDWAFLLPSDQRIDVELWAEQAELNSTELHQMRVQDNCLFSISPKAGSLSPGQEQMVELKYSHLFIGTDHLPVLFKVSHGREILLNFIGVTVKPEQKYVHFTSTTHQFIPIPIGDTLPPRQIYELYNGGSVPVTYEVQTDVLSQVQEKNFDHPIFCCLNPKGEIQPGSTARVLWIFSPIEAKTYTVDVPIHILGWNSALIHFQGVGYNPHMMGDTAPFHNISSWDNSSIHSRLVVPGQNVFLSQSHISLGNIPVQSKCSRLLFLNNISKNEEIAFSWQPSPLDFGEVSVSPMIGVVAPEETVPFVVTLRASVHASFYSADLVCKLYSQQLMRQYHKELQEWKDEKVRQEVEFTITDMKVKKRTCCTACEPARKYKTLPPIKNQQSVSRPASWKLQTPKEEVSWPCPQPPSPGMLCLGLTARAHATDYFLANFFSEFPCHFLHRELPKRKAPREESETSEEKSPNKWGPVSKQKKQLLVDILTTIIRGLLEDKNFHEAVDQSLVEQVPYFRQFWNEQSTKFMDQKNSLYLMPILPVPSSSWEDGKGKQPKEDRPEHYPGLGKKEEGEEEKGEEEEEELEEEEEEEEETEEEELGKEEIEEKEEERDEKEEKVSWAGIGPTPQPESQESMQWQWQQQLNVMVKEEQEQDEKEAIRRLPAFANLQEALLENMIQNILVEASRGEVVLTSRPRVIALPPFCVPRSLTPDTLLPTQQAEVLHPVVPLPTDLP
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 40 (SPGF40) [MIM:618664]: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:31501240, ECO:0000269|PubMed:31571197}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in flagellar formation and sperm motility (PubMed:33472045). Essential for acrosome formation, manchette organization, spermatid head morphogenesis and mitochondrial sheath assembly within the sperm flagellum during spermiogenesis (By similarity). Also required for proper assembly and stabilization of the C2a projection, a structural subunit of the central pair apparatus within the axoneme of motile cilia and flagella (By similarity). {ECO:0000250|UniProtKB:Q3V0B4, ECO:0000305|PubMed:33472045}.
uniprot
proteins
mass_dalton
217250
uniprot
proteins
protein_family
CFAP65 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
28552195
uniprot
proteins
pubmed
28585349
uniprot
proteins
pubmed
31413122
uniprot
proteins
pubmed
31501240
uniprot
proteins
pubmed
31571197
uniprot
proteins
pubmed
33472045
uniprot
proteins
sequence_length
1925
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000269|PubMed:33472045}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:33472045}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:31413122}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q3V0B4}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q3V0B4}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q3V0B4}. Note=Expressed in flagella midpiece and acrosome of mature spermatozoa. {ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:33472045}.
uniprot
proteins
transmembrane_region
TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins