HSPB3
Heat shock protein beta-3
Also known as: HSPB3_HUMAN, HSPL27
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12988
- Gene
- HSPB3
- Ensembl
- ENSG00000169271
- Chromosome
- 5
- Canonical length
- 150 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI Gene
This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
150 residues, UniProt reviewed canonical sequence.
>Q12988|HSPB3
1 MAKIILRHLI EIPVRYQEEF EARGLEDCRL DHALYALPGP TIVDLRKTRA AQSPPVDSAA
61 ETPPREGKSH FQILLDVVQF LPEDIIIQTF EGWLLIKAQH GTRMDEHGFI SRSFTRQYKL
121 PDGVEIKDLS AVLCHDGILV VEVKDPVGTKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HSPB3 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)
- 0.47
- Highest tissue expression
- 464 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 464 nTPM
- skeletal muscle: 233 nTPM
- tongue: 204 nTPM
- esophagus: 16 nTPM
- cerebral cortex: 13 nTPM
- blood vessel: 13 nTPM
Single-cell type
- thymic myoid cells: 196 nCPM
- sertoli cells: 32 nCPM
- cardiomyocytes: 31 nCPM
- myonuclei: 20 nCPM
- colonocytes: 19 nCPM
- platelets: 16 nCPM
Immune cell
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 7.5 nTPM
- cerebral cortex: 7.2 nTPM
- white matter: 4.9 nTPM
- basal ganglia: 3.1 nTPM
- hippocampal formation: 1.6 nTPM
- amygdala: 1.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HSPB3.
Disease | AllUniProt
Conditions HSPB3 is implicated in, by any mechanism.
- Neuronopathy, distal hereditary motor, autosomal dominant 4 (HMND4) MIM:613376
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)
- 1.85
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
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
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HSPB3 as an antibody target. Whether an autoantibody or antibody against HSPB3 could matter depends on whether native HSPB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HSPB3 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 HSPB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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