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

Gene ID: 126393, updated on 31-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35754566..35757029, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38299879..38302342, complement)
105.20220307 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
  • 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. Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry. Pfeffer TJ, et al. Int J Cardiol, 2023 May 15. PMID 36918127
  2. Physico-chemical properties of two point mutants of small heat shock protein HspB6 (Hsp20) with abrogated cardioprotection. Shatov VM, et al. Biochimie, 2020 Jul. PMID 32353387
  3. 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
  4. HSP20 Exerts a Protective Effect on Preeclampsia by Regulating Function of Trophoblast Cells Via Akt Pathways. Li F, et al. Reprod Sci, 2019 Jul. PMID 30305007
  5. Expression of heat shock protein 20 inversely correlated with tumor progression in patients with ovarian cancer. Qiao N, et al. Eur J Gynaecol Oncol, 2014. PMID 25423708

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HSPB6 Deficiency Promotes the Development of Aortic Dissection and Rupture.
    Title: HSPB6 Deficiency Promotes the Development of Aortic Dissection and Rupture.
  2. Overexpression of HSPB6 inhibits osteosarcoma progress through the ERK signaling pathway.
    Title: Overexpression of HSPB6 inhibits osteosarcoma progress through the ERK signaling pathway.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Structural basis for the interaction of a human HSPB6 protein with the 14-3-3 universal signaling regulator has been reported.
    Title: Structural Basis for the Interaction of a Human Small Heat Shock Protein with the 14-3-3 Universal Signaling Regulator.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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, 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_2023_10

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

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