POC1B
entrez
282809
canonical
uniprot
Q8TC44
canonical
ensembl
ENSG00000139323
resolver
ensp
ENSP00000323302
resolver
ensp
ENSP00000447916
resolver
ensp
ENSP00000707758
resolver
genesymbol
POC1B
resolver
genesymbol
WDR51B
resolver
genesymbol_syn
WDR51B
resolver
hgnc
HGNC:30836
resolver
uniprot
A0MNP0
resolver
uniprot
G3V1X0
resolver
uniprot_entry
A0MNP0_HUMAN
resolver
uniprot_entry
POC1B_HUMAN
resolver
uniprot_sec
G3V1X0
resolver
amino_acid_sequence
MASATEDPVLERYFKGHKAAITSLDLSPNGKQLATASWDTFLMLWNFKPHARAYRYVGHKDVVTSVQFSPHGNLLASASRDRTVRLWIPDKRGKFSEFKAHTAPVRSVDFSADGQFLATASEDKSIKVWSMYRQRFLYSLYRHTHWVRCAKFSPDGRLIVSCSEDKTIKIWDTTNKQCVNNFSDSVGFANFVDFNPSGTCIASAGSDQTVKVWDVRVNKLLQHYQVHSGGVNCISFHPSGNYLITASSDGTLKILDLLEGRLIYTLQGHTGPVFTVSFSKGGELFASGGADTQVLLWRTNFDELHCKGLTKRNLKRLHFDSPPHLLDIYPRTPHPHEEKVETVEINPKLEVIDLQISTPPVMDILSFDSTTTTETSGRTLPDKGEEACGYFLNPSLMSPECLPTTTKKKTEDMSDLPCESQRSIPLAVTDALEHIMEQLNVLTQTVSILEQRLTLTEDKLKDCLENQQKLFSAVQQKS
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 20 (CORD20) [MIM:615973]: A form of cone-rod dystrophy, 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:24945461, ECO:0000269|PubMed:25018096, ECO:0000269|PubMed:25044745}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation (PubMed:32060285). Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745). Acts as a positive regulator of centriole elongation (PubMed:37934472). {ECO:0000269|PubMed:19109428, ECO:0000269|PubMed:20008567, ECO:0000269|PubMed:23015594, ECO:0000269|PubMed:25044745, ECO:0000269|PubMed:32060285, ECO:0000269|PubMed:37934472}.
uniprot
proteins
mass_dalton
53668
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in mitotic cells that may be mediated by CDK1. {ECO:0000269|PubMed:23015594}.
uniprot
proteins
protein_family
WD repeat POC1 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18068700
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19109428
uniprot
proteins
pubmed
20008567
uniprot
proteins
pubmed
23015594
uniprot
proteins
pubmed
24945461
uniprot
proteins
pubmed
25018096
uniprot
proteins
pubmed
25044745
uniprot
proteins
pubmed
32060285
uniprot
proteins
pubmed
32110738
uniprot
proteins
pubmed
32946374
uniprot
proteins
pubmed
37934472
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:19109428, ECO:0000269|PubMed:23015594, ECO:0000269|PubMed:32060285, ECO:0000269|PubMed:32110738, ECO:0000269|PubMed:32946374, ECO:0000269|PubMed:37934472}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:20008567}. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles (PubMed:32060285). Localizes to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Localizes to the inner scaffold in the central region of centrioles. {ECO:0000250|UniProtKB:Q8BHD1, ECO:0000269|PubMed:32060285, ECO:0000269|PubMed:37934472}.
uniprot
proteins