Seroatlas · Human Serome Atlas

POF1B

Protein POF1B

Also known as: FLJ22792, POF, POF1B_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8WVV4
Gene
POF1B
Ensembl
ENSG00000124429
Chromosome
X
Canonical length
589 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called """"""""""""""""""""""""""""""""POF1"""""""""""""""""""""""""""""""" and """"""""""""""""""""""""""""""""POF2"""""""""""""""""""""""""""""""" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

589 residues, UniProt reviewed canonical sequence.

>Q8WVV4|POF1B
     1  MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN
    61  KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE
   121  LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ
   181  GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE
   241  QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES
   301  LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT SLENDKMRLE
   361  KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA LEENNLSLRH TLSDMEYRLK
   421  ELEYCKRNLE QENQNLRMQV SETCTGPMLQ AKMDEIGNHY TEMVKNLRME KDREICRLRS
   481  QLNQYHKDVS KREGSCSDFQ FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST
   541  GGRTTITTKK YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POF1B 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.58
Highest tissue expression
118 nTPM

Expression across tissuesHPA

Tissue

  • skin: 118 nTPM
  • colon: 51 nTPM
  • rectum: 48 nTPM
  • small intestine: 41 nTPM
  • duodenum: 32 nTPM
  • esophagus: 31 nTPM

Single-cell type

  • esophageal apical cells: 374 nCPM
  • colonocytes: 341 nCPM
  • goblet cells: 244 nCPM
  • enterocytes: 227 nCPM
  • urothelial cells: 218 nCPM
  • enteric transient amplifying cells: 192 nCPM

Immune cell

  • memory B-cell: 2.9 nTPM
  • naive B-cell: 2.2 nTPM
  • T-reg: 0.4 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • naive CD4 T-cell: 0.1 nTPM
  • basophil: 0 nTPM

Brain region

  • cerebellum: 4 nTPM
  • cerebral cortex: 2.9 nTPM
  • basal ganglia: 2.3 nTPM
  • hypothalamus: 2.3 nTPM
  • white matter: 2.3 nTPM
  • amygdala: 2.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POF1B.

Disease | AllUniProt

Conditions POF1B is implicated in, by any mechanism.

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)
1.14
gnomAD pLI
0
gnomAD missense Z
0.78
DepMap mean gene effect
0.04
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Protein POF1B
  • POF1B, helix-loop-helix domain
  • POF1B helix-loop-helix domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads POF1B as an antibody target. Whether an autoantibody or antibody against POF1B could matter depends on whether native POF1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POF1B is annotated at the cell surface, where native POF1B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label POF1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POF1B. 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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