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    HSPB1 heat shock protein family B (small) member 1 [ Homo sapiens (human) ]

    Gene ID: 3315, updated on 5-May-2024

    Summary

    Official Symbol
    HSPB1provided by HGNC
    Official Full Name
    heat shock protein family B (small) member 1provided by HGNC
    Primary source
    HGNC:HGNC:5246
    See related
    Ensembl:ENSG00000106211 MIM:602195; AllianceGenome:HGNC:5246
    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
    CMT2F; HMN2B; HMND3; HSP27; HSP28; Hsp25; SRP27; HS.76067; HEL-S-102
    Summary
    This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in esophagus (RPKM 497.4), skin (RPKM 350.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSPB1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76302673..76304292)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77590142..77591761)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75931990..75933609)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75814843-75815508 Neighboring gene Sharpr-MPRA regulatory region 5015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75826515-75827312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18306 Neighboring gene serine/arginine repetitive matrix 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75852108-75852608 Neighboring gene NANOG hESC enhancer GRCh37_chr7:75853947-75854451 Neighboring gene MPRA-validated peak6610 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18307 Neighboring gene uncharacterized LOC124901679 Neighboring gene MPRA-validated peak6611 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75884084-75884282 Neighboring gene Sharpr-MPRA regulatory region 1121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75890756-75891279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75896022-75896767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75919557-75920072 Neighboring gene CRISPRi-validated cis-regulatory element chr7.2946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26197 Neighboring gene Sharpr-MPRA regulatory region 11180 Neighboring gene Sharpr-MPRA regulatory region 14050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75946434-75947430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75947431-75948427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75957380-75957880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75957881-75958381 Neighboring gene fibroblast proliferation associated lncRNA Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75981845-75982083 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75987439-75987629 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75987737-75988383

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV Vif interacts with HSPB1 PubMed
    Vpr vpr Activation of HSP27 is mediated through heat shock factor 1 and is counteracted by HIV-1 Vpr PubMed
    vpr HSP27 reverses HIV-1 Vpr-induced G2 arrest and blocks Vpr-induced cell death and apoptosis PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp586P1322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein folding chaperone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase C binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase C inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in anterograde axonal protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to vascular endothelial growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chaperone-mediated protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet aggregation HMP PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endothelial cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of autophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of translational initiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to unfolded protein NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in vascular endothelial growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cornified envelope IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in focal adhesion HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proteasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    heat shock protein beta-1
    Names
    28 kDa heat shock protein
    epididymis secretory protein Li 102
    estrogen-regulated 24 kDa protein
    heat shock 27 kDa protein
    heat shock 27kD protein 1
    heat shock 27kDa protein 1
    stress-responsive protein 27

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008995.1 RefSeqGene

      Range
      5001..6740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_248

    mRNA and Protein(s)

    1. NM_001540.5NP_001531.1  heat shock protein beta-1

      See identical proteins and their annotated locations for NP_001531.1

      Status: REVIEWED

      Source sequence(s)
      BC012768, BP231480
      Consensus CDS
      CCDS5583.1
      UniProtKB/Swiss-Prot
      B2R4N8, P04792, Q6FI47, Q96C20, Q96EI7, Q9UC31, Q9UC34, Q9UC35, Q9UC36
      UniProtKB/TrEMBL
      A0A6Q8PFK8, V9HW43
      Related
      ENSP00000248553.6, ENST00000248553.7
      Conserved Domains (1) summary
      cd06475
      Location:84169
      ACD_HspB1_like; Alpha crystallin domain (ACD) found in mammalian small (s)heat shock protein (Hsp)-27 (also denoted HspB1 in human) and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      76302673..76304292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77590142..77591761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)