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    HSPB3 heat shock 27kDa protein 3 [ Homo sapiens ]

    Gene ID: 8988, updated on 11-May-2012
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    Summary

    Official Symbol
    HSPB3provided by HGNC
    Official Full Name
    heat shock 27kDa protein 3provided by HGNC
    Primary source
    HGNC:5248
    See related
    Ensembl:ENSG00000169271; HPRD:06861; MIM:604624; Vega:OTTHUMG00000096995
    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; 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]
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    Genomic context

    Location :
    5q11.2
    Sequence :
    Chromosome: 5; NC_000005.9 (53751431..53752214)
    See HSPB3 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ADP-ribosylation factor-like 15 Neighboring gene microRNA 581 Neighboring gene microRNA 4459 Neighboring gene sorting nexin 18 Neighboring gene chondroitin sulfate proteoglycan 4-like Neighboring gene zinc finger protein 561-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. 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.
    2. HSPB7 is a SC35 speckle resident small heat shock protein. Vos MJ, et al. Biochim Biophys Acta, 2009 Aug. PMID 19464326.
    3. Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3. Fontaine JM, et al. Biochem Biophys Res Commun, 2005 Nov 25. PMID 16225851.
    4. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

    See all (8) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. 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.
    Submit: New GeneRIF Correction
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Neuronopathy, distal hereditary motor, type IIC

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q12988 P39687 ANP32A    HPRD  PubMed  
    Q12988 O75936 BBOX1    HPRD  PubMed  
    Q12988 DKFZP564B147 FAM127B    HPRD  PubMed  
    Q12988 Q16082 HSPB2    HPRD  PubMed  
    Q12988 Q5T3J3 LRIF1    HPRD  PubMed  
    Q12988 Q9BX40 LSM14B    HPRD  PubMed  
    Q12988 Q9Y3C7 MED31    HPRD  PubMed  
    Q12988 Q96G25 MED8    HPRD  PubMed  
    Q12988 Q96DV4 MRPL38    HPRD  PubMed  
    Q12988 Q6X4W1 NELF    HPRD  PubMed  
    Q12988 Q9NRN5 OLFML3    HPRD  PubMed  
    Q12988 Q13523 PRPF4B    HPRD  PubMed  
    Q12988 O60896 RAMP3    HPRD  PubMed  
    Q12988 Hypothetical protein DKFZp564O0523 RBM48    HPRD  PubMed  
    Q12988 Q15047 SETDB1    HPRD  PubMed  
    Q12988 Q13432 UNC119    HPRD  PubMed  
    Q12988 Zinc finger ZZ type with EF hand domain 1 ZZEF1    HPRD  PubMed  
    BioGRID:114470 BioGRID:113791 ANP32A    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:114008 BBOX1    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:117530 FAM127B    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:109548 HSPB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114470 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:125219 MED8    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:122365 MRPL38    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:117485 NELF    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:121268 OLFML3    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:114416 PRPF4B    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:115559 RAMP3    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:123855 RBM48    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:115202 SETDB1    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:114548 UNC119    BioGRID  PubMed Two-hybrid 
    BioGRID:114470 BioGRID:116757 ZZEF1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to unfolded protein TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    heat shock protein beta-3
    Names
    heat shock protein beta-3
    HSP 17
    protein 3
    heat shock 17 kDa protein
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    NCBI Reference Sequences (RefSeq)

    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
      5001..5784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006308.2 → NP_006299.1  heat shock protein beta-3

      Status: REVIEWED

      Source sequence(s)
      AK314215, BX106905, N74672, U15590
      Consensus CDS
      CCDS3961.1
      UniProtKB/Swiss-Prot
      Q12988
      UniProtKB/TrEMBL
      Q6ICS9
      Related
      ENSP00000303394, OTTHUMP00000122478, ENST00000302005, OTTHUMT00000214074
      Conserved Domains (1) summary
      cd06477
      Location:63 – 145
      Blast Score: 430
      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      53751431..53752214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      50725404..50726187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC092366.3 (144370..145132) None
    genomic CH471123.1 EAW54893.1
    mRNA AK314215.1 BAG36889.1
    mRNA BC126272.1 AAI26273.1
    mRNA BC132869.1 AAI32870.1
    mRNA BX106905.1 None
    mRNA CR450314.1 CAG29310.1
    mRNA N74672.1 None
    mRNA U15590.1 AAD05360.1
    mRNA Y17782.1 CAA76848.1
    other-genetic HQ258075.1 ADR82829.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12988.2 GenPept UniProtKB/Swiss-Prot:Q12988
    Q6ICS9 GenPept UniProtKB/TrEMBL:Q6ICS9
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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