FAM161A
entrez
84140
canonical
uniprot
Q3B820
canonical
ensembl
ENSG00000170264
resolver
ensp
ENSP00000385158
resolver
ensp
ENSP00000385893
resolver
genesymbol
FAM161A
resolver
hgnc
HGNC:25808
resolver
uniprot
B4DJV7
resolver
uniprot
Q9H8R2
resolver
uniprot_entry
F161A_HUMAN
resolver
uniprot_sec
B4DJV7
resolver
uniprot_sec
Q9H8R2
resolver
amino_acid_sequence
MATSHRVAKLVASSLQTPVNPITGARVAQYEREDPLKALAAAEAILEDEEEEKVAQPAGASADLNTSFSGVDEHAPISYEDFVNFPDIHHSNEEYFKKVEELKAAHIETMAKLEKMYQDKLHLKEVQPVVIREDSLSDSSRSVSEKNSYHPVSLMTSFSEPDLGQSSSLYVSSSEEELPNLEKEYPRKNRMMTYAKELINNMWTDFCVEDYIRCKDTGFHAAEKRRKKRKEWVPTITVPEPFQMMIREQKKKEESMKSKSDIEMVHKALKKQEEDPEYKKKFRANPVPASVFLPLYHDLVKQKEERRRSLKEKSKEALLASQKPFKFIAREEQKRAAREKQLRDFLKYKKKTNRFKARPIPRSTYGSTTNDKLKEEELYRNLRTQLRAQEHLQNSSPLPCRSACGCRNPRCPEQAVKLKCKHKVRCPTPDFEDLPERYQKHLSEHKSPKLLTVCKPFDLHASPHASIKREKILADIEADEENLKETRWPYLSPRRKSPVRCAGVNPVPCNCNPPVPTVSSRGREQAVRKSEKERMREYQRELEEREEKLKKRPLLFERVAQKNARMAAEKHYSNTLKALGISDEFVSKKGQSGKVLEYFNNQETKSVTEDKESFNEEEKIEERENGEENYFIDTNSQDSYKEKDEANEESEEEKSVEESH
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 28 (RP28) [MIM:606068]: 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:20705278, ECO:0000269|PubMed:20705279, ECO:0000269|PubMed:31236346}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in ciliogenesis. {ECO:0000269|PubMed:22940612}.
uniprot
proteins
mass_dalton
76752
uniprot
proteins
protein_family
FAM161 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20705278
uniprot
proteins
pubmed
20705279
uniprot
proteins
pubmed
22791751
uniprot
proteins
pubmed
22940612
uniprot
proteins
pubmed
25018096
uniprot
proteins
pubmed
27588451
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31236346
uniprot
proteins
pubmed
32110738
uniprot
proteins
pubmed
32946374
uniprot
proteins
pubmed
36233334
uniprot
proteins
pubmed
37934472
uniprot
proteins
sequence_length
660
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22940612}. Cell projection, cilium {ECO:0000269|PubMed:22940612}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:32110738, ECO:0000269|PubMed:32946374, ECO:0000269|PubMed:37934472}. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium. Localizes to the inner scaffold in the central region of centrioles. {ECO:0000269|PubMed:32110738, ECO:0000269|PubMed:37934472}.
uniprot
proteins