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    HSPB6 heat shock protein family B (small) member 6 [ Homo sapiens (human) ]

    Gene ID: 126393, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HSPB6provided by HGNC
    Official Full Name
    heat shock protein family B (small) member 6provided by HGNC
    Primary source
    HGNC:HGNC:26511
    See related
    Ensembl:ENSG00000004776 MIM:610695; AllianceGenome:HGNC:26511
    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
    HEL55; Hsp20; PPP1R91
    Summary
    This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]
    Expression
    Biased expression in fat (RPKM 483.5), heart (RPKM 239.6) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSPB6 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35754566..35757029, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38299879..38302342, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36245467..36247930, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36238731-36239245 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36239246-36239760 Neighboring gene presenilin enhancer, gamma-secretase subunit Neighboring gene lin-37 DREAM MuvB core complex component Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36248182-36248753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14501 Neighboring gene proline and serine rich 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36257953-36258804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36268039-36268924 Neighboring gene Rho GTPase activating protein 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36268925-36269809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36275082-36275900

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Effect of Arginine on Chaperone-Like Activity of HspB6 and Monomeric 14-3-3ζ. Mikhaylova VV, et al. Int J Mol Sci, 2020 Mar 16. PMID 32188159, Free PMC Article
    2. Acetylation of heat shock protein 20 (Hsp20) regulates human myometrial activity. Karolczak-Bayatti M, et al. J Biol Chem, 2011 Sep 30. PMID 21803775, Free PMC Article
    3. Human mutation in the anti-apoptotic heat shock protein 20 abrogates its cardioprotective effects. Nicolaou P, et al. J Biol Chem, 2008 Nov 28. PMID 18790732, Free PMC Article
    4. Evidence that a protein kinase A substrate, small heat-shock protein 20, modulates myometrial relaxation in human pregnancy. Tyson EK, et al. Endocrinology, 2008 Dec. PMID 18755793
    5. Phosphorylation and activation of a transducible recombinant form of human HSP20 in Escherichia coli. Flynn CR, et al. Protein Expr Purif, 2007 Mar. PMID 17084643, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of HSP20 Ameliorates Steatotic Liver Disease by Stimulating ERK2-Dependent Autophagy.
      Title: Inhibition of HSP20 Ameliorates Steatotic Liver Disease by Stimulating ERK2-Dependent Autophagy.
    2. HSPB6 Deficiency Promotes the Development of Aortic Dissection and Rupture.
      Title: HSPB6 Deficiency Promotes the Development of Aortic Dissection and Rupture.
    3. Overexpression of HSPB6 inhibits osteosarcoma progress through the ERK signaling pathway.
      Title: Overexpression of HSPB6 inhibits osteosarcoma progress through the ERK signaling pathway.
    4. Cellular functions of heat shock protein 20 (HSPB6) in cancer: A review.
      Title: Cellular functions of heat shock protein 20 (HSPB6) in cancer: A review.
    5. HSPB6 Is Depleted in Colon Cancer Patients and Its Expression Is Induced by 5-aza-2'-Deoxycytidine In Vitro.
      Title: HSPB6 Is Depleted in Colon Cancer Patients and Its Expression Is Induced by 5-aza-2'-Deoxycytidine In Vitro.
    6. Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.
      Title: Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.
    7. Physico-chemical properties of two point mutants of small heat shock protein HspB6 (Hsp20) with abrogated cardioprotection.
      Title: Physico-chemical properties of two point mutants of small heat shock protein HspB6 (Hsp20) with abrogated cardioprotection.
    8. Effect of Arginine on Chaperone-Like Activity of HspB6 and Monomeric 14-3-3zeta.
      Title: Effect of Arginine on Chaperone-Like Activity of HspB6 and Monomeric 14-3-3ζ.
    9. HSP20 affects the invasiveness of extravillous trophoblast cells via Akt signaling pathway, and the its dysregulation might contribute to the pathophysiology of pre-eclampsia.
      Title: HSP20 Exerts a Protective Effect on Preeclampsia by Regulating Function of Trophoblast Cells Via Akt Pathways.
    10. these findings reveal a new regulatory mechanism of HSPB6 in cell survival through its interaction with BECN1.
      Title: Regulation of BECN1-mediated autophagy by HSPB6: Insights from a human HSPB6(S10F) mutant.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    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

    Clone Names

    • FLJ32389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein folding chaperone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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-6
    Names
    epididymis luminal protein 55
    epididymis secretory sperm binding protein
    heat shock 20 kDa-like protein p20
    heat shock protein family B (small) member B6
    heat shock protein family B member 6
    heat shock protein, alpha-crystallin-related, B6
    protein phosphatase 1, regulatory subunit 91

    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_031983.2 RefSeqGene

      Range
      5001..7464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_144617.3 → NP_653218.1  heat shock protein beta-6

      See identical proteins and their annotated locations for NP_653218.1

      Status: REVIEWED

      Source sequence(s)
      AK026458, AK056951, BC068046
      Consensus CDS
      CCDS12475.1
      UniProtKB/Swiss-Prot
      O14551, O14558, Q6NVI3, Q96MG9
      UniProtKB/TrEMBL
      A0A384MEB1, V9HWB6
      Related
      ENSP00000004982.3, ENST00000004982.6
      Conserved Domains (2) summary
      cd06478
      Location:66 → 144
      ACD_HspB4-5-6; Alpha-crystallin domain found in alphaA-crystallin (HspB4), alphaB-crystallin (HspB5), and the small heat shock protein (sHsp) HspB6, also known as Hsp20. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, ...
      pfam00525
      Location:3 → 58
      Crystallin; Alpha crystallin A chain, N terminal

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35754566..35757029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38299879..38302342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14558.2 GenPept UniProtKB/Swiss-Prot:O14558

    Gene LinkOut

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

    Chemical Information
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