HSPB8

Protein identityUniProt · HPA

UniProt accession

Q9UJY1

Gene

HSPB8

Ensembl

ENSG00000152137

Chromosome

12

Canonical length

196 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

196 residues, UniProt reviewed canonical sequence.

>Q9UJY1|HSPB8
     1  MADGQMPFSC HYPSRLRRDP FRDSPLSSRL LDDGFGMDPF PDDLTASWPD WALPRLSSAW
    61  PGTLRSGMVP RGPTATARFG VPAEGRTPPP FPGEPWKVCV NVHSFKPEEL MVKTKDGYVE
   121  VSGKHEEKQQ EGGIVSKNFT KKIQLPAEVD PVTVFASLSP EGLLIIEAPQ VPPYSTFGES
   181  SFNNELPQDS QEVTCT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSPB8 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)

0.57

Highest tissue expression

953 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSPB8.

Disease | AllUniProt

Conditions HSPB8 is implicated in, by any mechanism.

• Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) MIM:158590
• Charcot-Marie-Tooth disease, axonal, type 2L (CMT2L) MIM:608673
• Myopathy, myofibrillar, 13, with rimmed vacuoles (MFM13) MIM:621078

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 278 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy, myofibrillar, 13, with rimmed vacuoles
• Charcot-Marie-Tooth disease axonal type 2L
• Neuronopathy, distal hereditary motor, type 2A
• Charcot-Marie-Tooth disease
• Distal myopathy

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

0.04

gnomAD missense Z

0.03

DepMap mean gene effect

0.1

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

• cellular response to unfolded protein
• positive regulation of aggrephagy

Molecular functions

• identical protein binding
• protein homodimerization activity

Cellular components

• cytoplasm
• cytosol
• nucleoplasm
• nucleus
• protein folding chaperone complex

Protein domainsUniProt · Pfam · InterPro

• Alpha crystallin/Small heat shock protein, animal type
• Alpha crystallin/Hsp20 domain
• HSP20-like chaperone
• Hsp20/alpha crystallin family
• Heat shock protein beta-8, alpha-crystallin domain (ACD)
• Heat shock protein beta-8

KeywordsUniProt

• Chaperone
• Charcot-Marie-Tooth disease
• Cytoplasm
• Methylation
• Myofibrillar myopathy
• Neurodegeneration
• Neuropathy
• Nucleus
• Phosphoprotein
• Stress response

InteractionsUniProt · HPA

Protein binding partners of HSPB8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BAG3
• DNAJB6
• HSPB1
• CRYAB
• HSPB2
• HSPB6
• HSPB7
• MLF2
• NUDT12
• QRICH1