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UniProtKB - Q8TC44 (POC1B_HUMAN)

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Protein

POC1 centriolar protein homolog B

Gene

POC1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567). 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. Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745).4 Publications

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • retina homeostasis Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ8TC44

Names & Taxonomyi

Protein namesi
Recommended name:
POC1 centriolar protein homolog B
Alternative name(s):
Pix1
Proteome of centriole protein 1B
WD repeat-containing protein 51B
Gene namesi
Name:POC1B
Synonyms:WDR51B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139323.13
HGNCiHGNC:30836 POC1B
MIMi614784 gene
neXtProtiNX_Q8TC44

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy 20 (CORD20)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615973
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07191667Missing in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 1 Publication1
Natural variantiVAR_071917106R → P in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 3 PublicationsCorresponds to variant dbSNP:rs76216585EnsemblClinVar.1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNETi282809
MalaCardsiPOC1B
MIMi615973 phenotype
OpenTargetsiENSG00000139323
Orphaneti1872 Cone rod dystrophy
PharmGKBiPA165513299

Polymorphism and mutation databases

BioMutaiPOC1B
DMDMi74762610

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000514101 – 478POC1 centriolar protein homolog BAdd BLAST478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei321PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated in mitotic cells that may be mediated by CDK1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TC44
MaxQBiQ8TC44
PaxDbiQ8TC44
PeptideAtlasiQ8TC44
PRIDEiQ8TC44
ProteomicsDBi74088

PTM databases

iPTMnetiQ8TC44
PhosphoSitePlusiQ8TC44

Expressioni

Tissue specificityi

Expressed in the retina.1 Publication

Gene expression databases

BgeeiENSG00000139323
CleanExiHS_WDR51B
ExpressionAtlasiQ8TC44 baseline and differential
GenevisibleiQ8TC44 HS

Interactioni

Subunit structurei

Interacts with POC1A (PubMed:23015594). Interacts with FAM161A (PubMed:25018096).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NUDCQ9Y2662EBI-1176274,EBI-357298

Protein-protein interaction databases

BioGridi129421, 48 interactors
IntActiQ8TC44, 25 interactors
STRINGi9606.ENSP00000323302

Structurei

3D structure databases

ProteinModelPortaliQ8TC44
SMRiQ8TC44
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati16 – 55WD 1Add BLAST40
Repeati58 – 99WD 2Add BLAST42
Repeati101 – 139WD 3Add BLAST39
Repeati142 – 181WD 4Add BLAST40
Repeati183 – 223WD 5Add BLAST41
Repeati226 – 265WD 6Add BLAST40
Repeati268 – 307WD 7Add BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili431 – 470Sequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi370 – 375Poly-Thr6

Sequence similaritiesi

Belongs to the WD repeat POC1 family.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IF90 Eukaryota
ENOG410XR4H LUCA
GeneTreeiENSGT00810000125363
HOGENOMiHOG000036743
HOVERGENiHBG057502
InParanoidiQ8TC44
KOiK16482
OMAiTFLMLWN
OrthoDBiEOG091G07ES
PhylomeDBiQ8TC44
TreeFamiTF324210

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 7 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits
PS50082 WD_REPEATS_2, 7 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TC44-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLATASWDT FLMLWNFKPH 
        60         70         80         90        100
ARAYRYVGHK DVVTSVQFSP HGNLLASASR DRTVRLWIPD KRGKFSEFKA 
       110        120        130        140        150
HTAPVRSVDF SADGQFLATA SEDKSIKVWS MYRQRFLYSL YRHTHWVRCA 
       160        170        180        190        200
KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN NFSDSVGFAN FVDFNPSGTC 
       210        220        230        240        250
IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG NYLITASSDG 
       260        270        280        290        300
TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN 
       310        320        330        340        350
FDELHCKGLT KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE 
       360        370        380        390        400
VIDLQISTPP VMDILSFDST TTTETSGRTL PDKGEEACGY FLNPSLMSPE 
       410        420        430        440        450
CLPTTTKKKT EDMSDLPCES QRSIPLAVTD ALEHIMEQLN VLTQTVSILE 
       460        470 
QRLTLTEDKL KDCLENQQKL FSAVQQKS
Length:478
Mass (Da):53,668
Last modified:June 1, 2002 - v1
Checksum:i1D93DBBE05A603E8
GO
Isoform 2 (identifier: Q8TC44-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.

Note: Gene prediction based on EST data.
Show »
Length:436
Mass (Da):49,104
Checksum:i0570AE7A1F29DAD6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07191667Missing in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 1 Publication1
Natural variantiVAR_071917106R → P in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 3 PublicationsCorresponds to variant dbSNP:rs76216585EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0470661 – 42Missing in isoform 2. CuratedAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074772 mRNA Translation: BAC11198.1
AC010201 Genomic DNA No translation available.
AC025034 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW97425.1
BC026080 mRNA Translation: AAH26080.1
CCDSiCCDS31869.1 [Q8TC44-1]
CCDS55859.1 [Q8TC44-2]
RefSeqiNP_001186706.1, NM_001199777.1 [Q8TC44-2]
NP_758440.1, NM_172240.2 [Q8TC44-1]
UniGeneiHs.25130
Hs.604487

Genome annotation databases

EnsembliENST00000313546; ENSP00000323302; ENSG00000139323 [Q8TC44-1]
ENST00000549035; ENSP00000447916; ENSG00000139323 [Q8TC44-2]
GeneIDi282809
KEGGihsa:282809
UCSCiuc001tba.4 human [Q8TC44-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPOC1B_HUMAN
AccessioniPrimary (citable) accession number: Q8TC44
Secondary accession number(s): G3V1X0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: June 1, 2002
Last modified: June 20, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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