POPDC3
Popeye domain-containing protein 3
Also known as: bA355M14.1, MGC22671, POP3, POPD3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HBV1
- Gene
- POPDC3
- Ensembl
- ENSG00000132429
- Chromosome
- 6
- Canonical length
- 291 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli,Cytosol
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 these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Canonical amino-acid sequenceUniProt
291 residues, UniProt reviewed canonical sequence.
>Q9HBV1|POPDC3
1 MERNSSLWKN LIDEHPVCTT WKQEAEGAIY HLASILFVVG FMGGSGFFGL LYVFSLLGLG
61 FLCSAVWAWV DVCAADIFSW NFVLFVICFM QFVHIAYQVR SITFAREFQV LYSSLFQPLG
121 ISLPVFRTIA LSSEVVTLEK EHCYAMQGKT SIDKLSLLVS GRIRVTVDGE FLHYIFPLQF
181 LDSPEWDSLR PTEEGIFQVT LTAETDCRYV SWRRKKLYLL FAQHRYISRL FSVLIGSDIA
241 DKLYALNDRV YIGKRYHYDI RLPNFYQMST PEIRRSPLTQ HFQNSRRYCD KLocalizationUniProt · AlphaFold · HPA
Whether an antibody against POPDC3 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
- Unknown
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 76 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 76 nTPM
- tongue: 28 nTPM
- heart muscle: 19 nTPM
- cerebral cortex: 7 nTPM
- hippocampal formation: 5.2 nTPM
- choroid plexus: 5 nTPM
Single-cell type
- early spermatids: 140 nCPM
- myonuclei: 98 nCPM
- cardiomyocytes: 82 nCPM
- myosatellite cells: 34 nCPM
- retinal pigment epithelial cells: 30 nCPM
- oocytes: 23 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 14 nTPM
- cerebral cortex: 10 nTPM
- basal ganglia: 8.1 nTPM
- midbrain: 7.5 nTPM
- medulla oblongata: 7.2 nTPM
- spinal cord: 7.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about POPDC3.
Disease | AllUniProt
Conditions POPDC3 is implicated in, by any mechanism.
- Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) MIM:618848
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 54 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Muscular dystrophy, limb-girdle, autosomal recessive 26
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)
- 0.9
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
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
- heart development
- regulation of membrane potential
- skeletal muscle tissue development
- striated muscle cell differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads POPDC3 as an antibody target. Whether an autoantibody or antibody against POPDC3 could matter depends on whether native POPDC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
POPDC3 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 POPDC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...