Seroatlas · Human Serome Atlas

POC1A

POC1 centriolar protein homolog A

Also known as: DKFZP434C245, POC1A_HUMAN, WDR51A

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

Protein identityUniProt · HPA

UniProt accession
Q8NBT0
Gene
POC1A
Ensembl
ENSG00000164087
Chromosome
3
Canonical length
407 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Flagellar centriole,Mid piece,Principal piece

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. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

Canonical amino-acid sequenceUniProt

407 residues, UniProt reviewed canonical sequence.

>Q8NBT0|POC1A
     1  MAAPCAEDPS LERHFKGHRD AVTCVDFSIN TKQLASGSMD SCLMVWHMKP QSRAYRFTGH
    61  KDAVTCVNFS PSGHLLASGS RDKTVRIWVP NVKGESTVFR AHTATVRSVH FCSDGQSFVT
   121  ASDDKTVKVW ATHRQKFLFS LSQHINWVRC AKFSPDGRLI VSASDDKTVK LWDKSSRECV
   181  HSYCEHGGFV TYVDFHPSGT CIAAAGMDNT VKVWDVRTHR LLQHYQLHSA AVNGLSFHPS
   241  GNYLITASSD STLKILDLME GRLLYTLHGH QGPATTVAFS RTGEYFASGG SDEQVMVWKS
   301  NFDIVDHGEV TKVPRPPATL ASSMGNLPEV DFPVPPGRGR SVESVQSQPQ EPVSVPQTLT
   361  STLEHIVGQL DVLTQTVSIL EQRLTLTEDK LKQCLENQQL IMQRATP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POC1A 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)
0.32
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • testis: 17 nTPM
  • thymus: 12 nTPM
  • bone marrow: 11 nTPM
  • tonsil: 6.6 nTPM
  • rectum: 5.7 nTPM
  • colon: 5.5 nTPM

Single-cell type

  • late spermatids: 116 nCPM
  • late primary spermatocytes: 66 nCPM
  • early spermatids: 54 nCPM
  • erythrocyte progenitors: 41 nCPM
  • extravillous trophoblasts: 39 nCPM
  • monocyte progenitors: 38 nCPM

Immune cell

  • T-reg: 2.6 nTPM
  • intermediate monocyte: 2.2 nTPM
  • myeloid DC: 1.9 nTPM
  • plasmacytoid DC: 1.9 nTPM
  • classical monocyte: 1.6 nTPM
  • non-classical monocyte: 1.6 nTPM

Brain region

  • medulla oblongata: 2.9 nTPM
  • pons: 2.8 nTPM
  • cerebral cortex: 2.7 nTPM
  • white matter: 2.6 nTPM
  • hypothalamus: 2.5 nTPM
  • midbrain: 2.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POC1A.

Disease | AllUniProt

Conditions POC1A is implicated in, by any mechanism.

  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) MIM:614813

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 242 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
  • POC1A-related syndrome
  • Ateleiotic dwarfism
  • See cases
  • POC1A-related disorder

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
1.08
DepMap mean gene effect
-0.31
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 POC1A 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 POC1A as an antibody target. Whether an autoantibody or antibody against POC1A could matter depends on whether native POC1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POC1A 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 POC1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POC1A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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