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HSPB3 heat shock protein family B (small) member 3 [ Homo sapiens (human) ]

Gene ID: 8988, updated on 2-Nov-2024

Summary

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Official Symbol
HSPB3provided by HGNC
Official Full Name
heat shock protein family B (small) member 3provided by HGNC
Primary source
HGNC:HGNC:5248
See related
Ensembl:ENSG00000169271 MIM:604624; AllianceGenome:HGNC:5248
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMN2C; HMND4; DHMN2C; HSPL27
Summary
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]
Orthologs
mouse all
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Genomic context

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See HSPB3 in Genome Data Viewer
Location:
5q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (54455699..54456377)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (55283264..55283942)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (53751529..53752207)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ARF like GTPase 15 Neighboring gene RNA, 7SL, cytoplasmic 801, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr5:53476360-53476866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53592529-53593029 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:53600502-53601165 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1314 Neighboring gene GATA motif-containing MPRA enhancer 36 Neighboring gene long intergenic non-protein coding RNA 1033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53735813-53736314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22550 Neighboring gene ribosomal protein L37 pseudogene 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:53813343-53813584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:53814497-53815441 Neighboring gene sorting nexin 18 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:53935341-53935915 Neighboring gene uncharacterized LOC105378969 Neighboring gene long intergenic non-protein coding RNA 2998

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension". Asthana A, et al. Cell Biochem Biophys, 2012 Sep. PMID 22610661
  2. Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27. Lam WY, et al. Biochim Biophys Acta, 1996 Nov 8. PMID 8972725
  3. HspB3, the most deviating of the six known human small heat shock proteins. Boelens WC, et al. Biochim Biophys Acta, 1998 Nov 10. PMID 9858786
  4. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Kolb SJ, et al. Neurology, 2010 Feb 9. PMID 20142617
  5. Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. Nam DE, et al. J Peripher Nerv Syst, 2018 Mar. PMID 29341343

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
    Title: PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
  2. Evaluation of the Small Heat Shock Protein Family Members HSPB2 and HSPB3 in Bladder Cancer Prognosis and Progression.
    Title: Evaluation of the Small Heat Shock Protein Family Members HSPB2 and HSPB3 in Bladder Cancer Prognosis and Progression.
  3. Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
    Title: Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
  4. High HSPB3 expression is associated with poor relapse-free survival (RFS) and overall survival (OS) of patients with colorectal adenocarcinoma.
    Title: Heat shock protein beta 3 (HSPB3) is an unfavorable molecular biomarker in colorectal adenocarcinoma.
  5. We identified a novel HSPB3 mutation (p.Tyr118His) in a Korean Charcot-Marie-Tooth disease type 2 family
    Title: Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
  6. HSPB2 competes with HSPB8 for binding to BAG3. In contrast, HSPB3 negatively regulates HSPB2 association with BAG3.
    Title: An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8.
  7. This study showed that the endogenous HSPB3 protein distribution in the spinal cords of chicken and mouse embryos and in the postnatal nervous system of human.
    Title: HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration.
  8. HspB3 exhibits chaperone-like activity.
    Title: Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension".
  9. an HSPB3 mutation associated with an axonal motor neuropathy
    Title: Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
  10. Our results suggest that a variety of oligomers composed of different proportions of different sHSPs may form in cell types expressing multiple sHSPs.
    Title: Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neuronopathy, distal hereditary motor, type 2C
MedGen: C3150619 OMIM: 613376 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
heat shock protein beta-3
Names
HSP 17
heat shock 17 kDa protein
heat shock 27kDa protein 3
heat shock protein family B member 3
protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027758.1 RefSeqGene

    Range
    5099..5777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006308.3 → NP_006299.1  heat shock protein beta-3

    See identical proteins and their annotated locations for NP_006299.1

    Status: REVIEWED

    Source sequence(s)
    BX106905, N74672, U15590
    Consensus CDS
    CCDS3961.1
    UniProtKB/Swiss-Prot
    Q12988
    UniProtKB/TrEMBL
    Q6ICS9
    Related
    ENSP00000303394.1, ENST00000302005.3
    Conserved Domains (1) summary
    cd06477
    Location:63 → 145
    ACD_HspB3_Like; Alpha crystallin domain (ACD) found in mammalian HspB3, also known as heat-shock protein 27-like protein (HSPL27, 17-kDa) and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    54455699..54456377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    55283264..55283942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12988.2 GenPept UniProtKB/Swiss-Prot:Q12988

Gene LinkOut

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