CFAP410
entrez
755
canonical
uniprot
O43822
canonical
ensembl
ENSG00000160226
resolver
ensp
ENSP00000317302
resolver
ensp
ENSP00000344566
resolver
ensp
ENSP00000381047
resolver
ensp
ENSP00000663006
resolver
genesymbol
CFAP410
resolver
genesymbol_syn
C21orf2
resolver
genesymbol_syn
LRRC76
resolver
hgnc
HGNC:1260
resolver
uniprot
A8MPS9
resolver
uniprot
O14993
resolver
uniprot
Q8N5X6
resolver
uniprot
Q99837
resolver
uniprot
Q99838
resolver
uniprot_entry
CF410_HUMAN
resolver
uniprot_sec
A8MPS9
resolver
uniprot_sec
O14993
resolver
uniprot_sec
Q8N5X6
resolver
uniprot_sec
Q99837
resolver
uniprot_sec
Q99838
resolver
amino_acid_sequence
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
uniprot
proteins
disease_involvement
DISEASE: Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]: An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients. {ECO:0000269|PubMed:26294103, ECO:0000269|PubMed:27548899}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. {ECO:0000269|PubMed:26167768, ECO:0000269|PubMed:26974433, ECO:0000269|PubMed:27548899, ECO:0000269|PubMed:28422394}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490). {ECO:0000250|UniProtKB:Q8C6G1, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:26290490}.
uniprot
proteins
mass_dalton
28340
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21834987
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26167768
uniprot
proteins
pubmed
26290490
uniprot
proteins
pubmed
26294103
uniprot
proteins
pubmed
26974433
uniprot
proteins
pubmed
27548899
uniprot
proteins
pubmed
28422394
uniprot
proteins
pubmed
9325172
uniprot
proteins
pubmed
9465297
uniprot
proteins
sequence_length
256
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:9325172}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26167768, ECO:0000269|PubMed:26294103}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:27548899}. Cytoplasm {ECO:0000269|PubMed:26290490}. Note=Colocalizes with NEK1 and SPATA7 at the basal body. {ECO:0000269|PubMed:26167768}.
uniprot
proteins