CFAP45
entrez
25790
canonical
uniprot
Q9UL16
canonical
ensembl
ENSG00000213085
resolver
ensp
ENSP00000357079
resolver
genesymbol
CFAP45
resolver
genesymbol_syn
CCDC19
resolver
genesymbol_syn
NESG1
resolver
hgnc
HGNC:17229
resolver
uniprot
C9JH28
resolver
uniprot
Q05BA3
resolver
uniprot
Q5VU18
resolver
uniprot_entry
CFA45_HUMAN
resolver
uniprot_sec
C9JH28
resolver
uniprot_sec
Q05BA3
resolver
uniprot_sec
Q5VU18
resolver
amino_acid_sequence
MPLSTAGILSSSSAASNRSRNKARYRTKAVSSEVDESLFGDIKSPAQGQSDSPIVLLRDKHTLQKTLTALGLDRKPETIQLITRDMVRELIVPTEDPSGESLIISPEEFERIKWASHVLTREELEARDQAFKKEKEATMDAVMTRKKIMKQKEMVWNNNKKLSDLEEVAKERAQNLLQRANKLRMEQEEELKDMSKIILNAKCHAIRDAQILEKQQIQKELDTEEKRLDQMMEVERQKSIQRQEELERKRREERIRGRRQIVEQMEKNQEERSLLAEQREQEKEQMLEYMEQLQEEDLKDMERRQQQKLKMQAEIKRINDENQKQKAELLAQEKLADQMVMEFTKKKMAREAEFEAEQERIRREKEKEIARLRAMQEKAQDYQAEQDALRAKRNQEVADREWRRKEKENARKKMETEAELRKSRLEQVAFKEHALAVQVQRDRDEFERILRAQREQIEKERLEEEKKATGRLQHANELRRQVRENQQKEVQNRIATFEEGRRLKEEAQKRRERIDEIKRKKLEELRATGLPEKYCIEAERKANILPATSVN
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 11, autosomal, with male infertility (HTX11) [MIM:619608]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility. {ECO:0000269|PubMed:33139725}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). It is an AMP-binding protein that may facilitate dynein ATPase-dependent ciliary and flagellar beating via adenine nucleotide homeostasis. May function as a donor of AMP to AK8 and hence promote ADP production (PubMed:33139725). {ECO:0000250|UniProtKB:Q32LN4, ECO:0000269|PubMed:33139725, ECO:0000269|PubMed:36191189}.
uniprot
proteins
mass_dalton
65730
uniprot
proteins
protein_family
CFAP45 family
uniprot
proteins
pubmed
10524255
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
31429579
uniprot
proteins
pubmed
33139725
uniprot
proteins
pubmed
36191189
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:33139725, ECO:0000269|PubMed:36191189}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:33139725}. Cell projection, cilium {ECO:0000269|PubMed:31429579}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:31429579}. Note=Located in the proximal region of respiratory cilia. {ECO:0000269|PubMed:33139725}.
uniprot
proteins