Seroatlas · Human Serome Atlas

POC1B

POC1 centriolar protein homolog B

Also known as: FLJ14923, POC1B_HUMAN, TUWD12, WDR51B

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8TC44
Gene: POC1B
Ensembl: ENSG00000139323
Chromosome: 12
Canonical length: 478 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol,Flagellar centriole

OverviewNCBI Gene

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

478 residues, UniProt reviewed canonical sequence.

>Q8TC44|POC1B
     1  MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLATASWDT FLMLWNFKPH ARAYRYVGHK
    61  DVVTSVQFSP HGNLLASASR DRTVRLWIPD KRGKFSEFKA HTAPVRSVDF SADGQFLATA
   121  SEDKSIKVWS MYRQRFLYSL YRHTHWVRCA KFSPDGRLIV SCSEDKTIKI WDTTNKQCVN
   181  NFSDSVGFAN FVDFNPSGTC IASAGSDQTV KVWDVRVNKL LQHYQVHSGG VNCISFHPSG
   241  NYLITASSDG TLKILDLLEG RLIYTLQGHT GPVFTVSFSK GGELFASGGA DTQVLLWRTN
   301  FDELHCKGLT KRNLKRLHFD SPPHLLDIYP RTPHPHEEKV ETVEINPKLE VIDLQISTPP
   361  VMDILSFDST TTTETSGRTL PDKGEEACGY FLNPSLMSPE CLPTTTKKKT EDMSDLPCES
   421  QRSIPLAVTD ALEHIMEQLN VLTQTVSILE QRLTLTEDKL KDCLENQQKL FSAVQQKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POC1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.35
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 16 nTPM
rectum: 12 nTPM
small intestine: 12 nTPM
colon: 12 nTPM
fallopian tube: 12 nTPM
midbrain: 12 nTPM

Single-cell type

endometrial glandular cells: 237 nCPM
late spermatids: 169 nCPM
somatotrophs: 149 nCPM
oligodendrocytes: 133 nCPM
endometrial ciliated cells: 123 nCPM
endometrial luminal cells: 111 nCPM

Immune cell

MAIT T-cell: 19 nTPM
NK-cell: 19 nTPM
gdT-cell: 15 nTPM
eosinophil: 15 nTPM
memory CD8 T-cell: 13 nTPM
basophil: 12 nTPM

Brain region

white matter: 20 nTPM
basal ganglia: 13 nTPM
medulla oblongata: 12 nTPM
spinal cord: 12 nTPM
cerebellum: 11 nTPM
pons: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POC1B.

Disease | AllUniProt

Conditions POC1B is implicated in, by any mechanism.

Cone-rod dystrophy 20 (CORD20) MIM:615973

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 430 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on POC1B was assayed in.

lung non-small cell carcinoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.93
gnomAD pLI: 0
gnomAD missense Z: -0.09
DepMap mean gene effect: -0.13
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POC1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads POC1B as an antibody target. Whether an autoantibody or antibody against POC1B could matter depends on whether native POC1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POC1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label POC1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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