CFAP418
entrez
157657
canonical
uniprot
Q96NL8
canonical
ensembl
ENSG00000156172
resolver
ensp
ENSP00000286688
resolver
ensp
ENSP00000615388
resolver
enst
ENST00000286688
resolver
genesymbol
CFAP418
resolver
genesymbol_syn
C8orf37
resolver
genesymbol_syn
smalltalk
resolver
hgnc
HGNC:27232
resolver
uniprot
F4Y588
resolver
uniprot_entry
CF418_HUMAN
resolver
uniprot_sec
F4Y588
resolver
amino_acid_sequence
MAEDLDELLDEVESKFCTPDLLRRGMVEQPKGCGGGTHSSDRNQAKAKETLRSTETFKKEDDLDSLINEILEEPNLDKKPSKLKSKSSGNTSVRASIEGLGKSCSPVYLGGSSIPCGIGTNISWRACDHLRCIACDFLVVSYDDYMWDKSCDYLFFRNNMPEFHKLKAKLIKKKGTRAYACQCSWRTIEEVTDLQTDHQLRWVCGKH
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:22177090, ECO:0000269|PubMed:36233334}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 64 (RP64) [MIM:614500]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:22177090, ECO:0000269|PubMed:36233334}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:26854863, ECO:0000269|PubMed:27008867, ECO:0000269|PubMed:36233334}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in photoreceptor outer segment disk morphogenesis (By similarity). {ECO:0000250|UniProtKB:Q3UJP5}.
uniprot
proteins
mass_dalton
23381
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
22177090
uniprot
proteins
pubmed
26854863
uniprot
proteins
pubmed
27008867
uniprot
proteins
pubmed
36233334
uniprot
proteins
sequence_length
207
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3UJP5}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q3UJP5}. Note=In the retina, located at the base of the primary cilium (PubMed:22177090). Expressed throughout photoreceptors cell body including the basal body, inner segment and synaptic terminus, but not in the outer segment. {ECO:0000250|UniProtKB:Q3UJP5, ECO:0000269|PubMed:22177090}.
uniprot
proteins