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

    Gene ID: 8988, updated on 5-Mar-2024

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    5q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (54455699..54456377)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (55283264..55283942)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (53751529..53752207)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

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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_006308.3NP_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: GCF_000001405.40-RS_2023_10

    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)