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

    Gene ID: 8988, updated on 17-Jun-2019

    Summary

    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
    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]
    Orthologs

    Genomic context

    See HSPB3 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (54455699..54456377)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (53751431..53752214)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 36 Neighboring gene long intergenic non-protein coding RNA 1033 Neighboring gene ribosomal protein L37 pseudogene 25 Neighboring gene sorting nexin 18 Neighboring gene uncharacterized LOC105378967 Neighboring gene uncharacterized LOC105378968

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 

    General protein information

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

    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_006308.3NP_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:63145
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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