UniProtKB - Q8TC44 (POC1B_HUMAN)
Protein
POC1 centriolar protein homolog B
Gene
POC1B
Organism
Homo sapiens (Human)
Status
Functioni
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).5 Publications
GO - Biological processi
- cell population proliferation Source: UniProtKB
- centriole replication Source: UniProtKB
- cilium assembly Source: UniProtKB
- retina homeostasis Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q8TC44 |
SignaLinki | Q8TC44 |
Names & Taxonomyi
Protein namesi | Recommended name: POC1 centriolar protein homolog BCuratedAlternative name(s): Pix1 Proteome of centriole protein 1B WD repeat-containing protein 51B |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000139323.13 |
HGNCi | HGNC:30836, POC1B |
MIMi | 614784, gene |
neXtProti | NX_Q8TC44 |
Subcellular locationi
Cytoskeleton
- centrosome 1 Publication
- centriole 3 Publications
- cilium basal body 1 Publication
- 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.By similarity1 Publication
Cytoskeleton
- centriole Source: UniProtKB
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
- spindle pole Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB-KW
Keywords - Cellular componenti
Cell projection, Cytoplasm, CytoskeletonPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071916 | 67 | Missing in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 1 Publication | 1 | |
Natural variantiVAR_071917 | 106 | R → 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 mutationOrganism-specific databases
DisGeNETi | 282809 |
GeneReviewsi | POC1B |
MalaCardsi | POC1B |
MIMi | 615973, phenotype |
OpenTargetsi | ENSG00000139323 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA165513299 |
Miscellaneous databases
Pharosi | Q8TC44, Tbio |
Polymorphism and mutation databases
BioMutai | POC1B |
DMDMi | 74762610 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051410 | 1 – 478 | POC1 centriolar protein homolog BAdd BLAST | 478 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 321 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated in mitotic cells that may be mediated by CDK1.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8TC44 |
jPOSTi | Q8TC44 |
MassIVEi | Q8TC44 |
MaxQBi | Q8TC44 |
PaxDbi | Q8TC44 |
PeptideAtlasi | Q8TC44 |
PRIDEi | Q8TC44 |
ProteomicsDBi | 32464 74088 [Q8TC44-1] |
PTM databases
iPTMneti | Q8TC44 |
PhosphoSitePlusi | Q8TC44 |
Expressioni
Tissue specificityi
Expressed in the retina.1 Publication
Gene expression databases
Bgeei | ENSG00000139323, Expressed in epithelial cell of pancreas and 212 other tissues |
ExpressionAtlasi | Q8TC44, baseline and differential |
Genevisiblei | Q8TC44, HS |
Organism-specific databases
HPAi | ENSG00000139323, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q8TC44
With | #Exp. | IntAct |
---|---|---|
NUDC [Q9Y266] | 3 | EBI-1176274,EBI-357298 |
Protein-protein interaction databases
BioGRIDi | 129421, 48 interactors |
IntActi | Q8TC44, 44 interactors |
STRINGi | 9606.ENSP00000323302 |
Miscellaneous databases
RNActi | Q8TC44, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 16 – 55 | WD 1Add BLAST | 40 | |
Repeati | 58 – 99 | WD 2Add BLAST | 42 | |
Repeati | 101 – 139 | WD 3Add BLAST | 39 | |
Repeati | 142 – 181 | WD 4Add BLAST | 40 | |
Repeati | 183 – 223 | WD 5Add BLAST | 41 | |
Repeati | 226 – 265 | WD 6Add BLAST | 40 | |
Repeati | 268 – 307 | WD 7Add BLAST | 40 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 431 – 470 | Sequence analysisAdd BLAST | 40 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 370 – 375 | Poly-Thr | 6 |
Sequence similaritiesi
Belongs to the WD repeat POC1 family.Curated
Keywords - Domaini
Coiled coil, Repeat, WD repeatPhylogenomic databases
eggNOGi | ENOG502QSVJ, Eukaryota |
GeneTreei | ENSGT00940000160413 |
HOGENOMi | CLU_000288_57_17_1 |
InParanoidi | Q8TC44 |
OMAi | FQHTHWV |
PhylomeDBi | Q8TC44 |
TreeFami | TF324210 |
Family and domain databases
Gene3Di | 2.130.10.10, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00400, WD40, 7 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 7 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TC44-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ8IU52 | Q8IU52_HUMAN | POC1 centriolar protein homolog B | POC1B TUWD12, WDR51B, hCG_27606 | 348 | Annotation score: | ||
F8VX21 | F8VX21_HUMAN | POC1 centriolar protein homolog B | POC1B | 91 | Annotation score: | ||
F8VPF1 | F8VPF1_HUMAN | POC1 centriolar protein homolog B | POC1B | 93 | Annotation score: | ||
F8VV91 | F8VV91_HUMAN | POC1 centriolar protein homolog B | POC1B | 50 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071916 | 67 | Missing in CORD20; disrupts interaction with FAM161A; localization of the mutant is cytosolic without enrichment at specific subcellular sites. 1 Publication | 1 | |
Natural variantiVAR_071917 | 106 | R → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047066 | 1 – 42 | Missing in isoform 2. CuratedAdd BLAST | 42 |
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 |
CCDSi | CCDS31869.1 [Q8TC44-1] CCDS55859.1 [Q8TC44-2] |
RefSeqi | NP_001186706.1, NM_001199777.1 [Q8TC44-2] NP_758440.1, NM_172240.2 [Q8TC44-1] |
Genome annotation databases
Ensembli | ENST00000313546; ENSP00000323302; ENSG00000139323 [Q8TC44-1] ENST00000549035; ENSP00000447916; ENSG00000139323 [Q8TC44-2] |
GeneIDi | 282809 |
KEGGi | hsa:282809 |
UCSCi | uc001tba.4, human [Q8TC44-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS31869.1 [Q8TC44-1] CCDS55859.1 [Q8TC44-2] |
RefSeqi | NP_001186706.1, NM_001199777.1 [Q8TC44-2] NP_758440.1, NM_172240.2 [Q8TC44-1] |
3D structure databases
SMRi | Q8TC44 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129421, 48 interactors |
IntActi | Q8TC44, 44 interactors |
STRINGi | 9606.ENSP00000323302 |
PTM databases
iPTMneti | Q8TC44 |
PhosphoSitePlusi | Q8TC44 |
Polymorphism and mutation databases
BioMutai | POC1B |
DMDMi | 74762610 |
Proteomic databases
EPDi | Q8TC44 |
jPOSTi | Q8TC44 |
MassIVEi | Q8TC44 |
MaxQBi | Q8TC44 |
PaxDbi | Q8TC44 |
PeptideAtlasi | Q8TC44 |
PRIDEi | Q8TC44 |
ProteomicsDBi | 32464 74088 [Q8TC44-1] |
Protocols and materials databases
Antibodypediai | 29964, 110 antibodies |
DNASUi | 282809 |
Genome annotation databases
Ensembli | ENST00000313546; ENSP00000323302; ENSG00000139323 [Q8TC44-1] ENST00000549035; ENSP00000447916; ENSG00000139323 [Q8TC44-2] |
GeneIDi | 282809 |
KEGGi | hsa:282809 |
UCSCi | uc001tba.4, human [Q8TC44-1] |
Organism-specific databases
CTDi | 282809 |
DisGeNETi | 282809 |
EuPathDBi | HostDB:ENSG00000139323.13 |
GeneCardsi | POC1B |
GeneReviewsi | POC1B |
HGNCi | HGNC:30836, POC1B |
HPAi | ENSG00000139323, Low tissue specificity |
MalaCardsi | POC1B |
MIMi | 614784, gene 615973, phenotype |
neXtProti | NX_Q8TC44 |
OpenTargetsi | ENSG00000139323 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA165513299 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSVJ, Eukaryota |
GeneTreei | ENSGT00940000160413 |
HOGENOMi | CLU_000288_57_17_1 |
InParanoidi | Q8TC44 |
OMAi | FQHTHWV |
PhylomeDBi | Q8TC44 |
TreeFami | TF324210 |
Enzyme and pathway databases
PathwayCommonsi | Q8TC44 |
SignaLinki | Q8TC44 |
Miscellaneous databases
BioGRID-ORCSi | 282809, 25 hits in 842 CRISPR screens |
ChiTaRSi | POC1B, human |
GenomeRNAii | 282809 |
Pharosi | Q8TC44, Tbio |
PROi | PR:Q8TC44 |
RNActi | Q8TC44, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000139323, Expressed in epithelial cell of pancreas and 212 other tissues |
ExpressionAtlasi | Q8TC44, baseline and differential |
Genevisiblei | Q8TC44, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF00400, WD40, 7 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 7 hits PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | POC1B_HUMAN | |
Accessioni | Q8TC44Primary (citable) accession number: Q8TC44 Secondary accession number(s): G3V1X0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 24, 2006 |
Last sequence update: | June 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations