Seroatlas · Human Serome Atlas

POPDC1

Popeye domain-containing protein 1

Also known as: BVES, HBVES, POP1, POPD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NE79
Gene
POPDC1
Ensembl
ENSG00000112276
Chromosome
6
Canonical length
360 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane,Cell Junctions
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>Q8NE79|POPDC1
     1  MNYTESSPLR ESTAIGFTPE LESIIPVPSN KTTCENWREI HHLVFHVANI CFAVGLVIPT
    61  TLHLHMIFLR GMLTLGCTLY IVWATLYRCA LDIMIWNSVF LGVNILHLSY LLYKKRPVKI
   121  EKELSGMYRR LFEPLRVPPD LFRRLTGQFC MIQTLKKGQT YAAEDKTSVD DRLSILLKGK
   181  MKVSYRGHFL HNIYPCAFID SPEFRSTQMH KGEKFQVTII ADDNCRFLCW SRERLTYFLE
   241  SEPFLYEIFR YLIGKDITNK LYSLNDPTLN DKKAKKLEHQ LSLCTQISML EMRNSIASSS
   301  DSDDGLHQFL RGTSSMSSLH VSSPHQRASA KMKPIEEGAE DDDDVFEPAS PNTLKVHQLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POPDC1 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
3
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 41 nTPM
  • tongue: 27 nTPM
  • heart muscle: 26 nTPM
  • smooth muscle: 17 nTPM
  • colon: 14 nTPM
  • testis: 11 nTPM

Single-cell type

  • myonuclei: 120 nCPM
  • late spermatids: 94 nCPM
  • late primary spermatocytes: 57 nCPM
  • cardiomyocytes: 46 nCPM
  • early spermatids: 31 nCPM
  • pituicytes/fscs: 26 nCPM

Immune cell

  • basophil: 0.7 nTPM
  • neutrophil: 0.2 nTPM
  • plasmacytoid DC: 0.2 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • white matter: 23 nTPM
  • medulla oblongata: 17 nTPM
  • basal ganglia: 15 nTPM
  • cerebellum: 13 nTPM
  • pons: 13 nTPM
  • midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POPDC1.

Disease | AllUniProt

Conditions POPDC1 is implicated in, by any mechanism.

  • Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25) MIM:616812

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 92 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.95
gnomAD pLI
0
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POPDC1 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 POPDC1 as an antibody target. Whether an autoantibody or antibody against POPDC1 could matter depends on whether native POPDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POPDC1 is annotated at the cell surface, where native POPDC1 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 POPDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POPDC1. 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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