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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.
Title: HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.
Reactive astrocytes secrete the chaperone HSPB1 to mediate neuroprotection.
Title: Reactive astrocytes secrete the chaperone HSPB1 to mediate neuroprotection.
HSPB1 as an RNA-binding protein mediates the pathological process of osteoarthritis.
Title: HSPB1 as an RNA-binding protein mediates the pathological process of osteoarthritis.
Mechanical activation and expression of HSP27 in epithelial ovarian cancer.
Title: Mechanical activation and expression of HSP27 in epithelial ovarian cancer.
Heat shock protein 27 in the pathogenesis of COVID-19 and non-COVID acute respiratory distress syndrome.
Title: Heat shock protein 27 in the pathogenesis of COVID-19 and non-COVID acute respiratory distress syndrome.
FHOD1 is upregulated in glioma cells and attenuates ferroptosis of glioma cells by targeting HSPB1 signaling.
Title: FHOD1 is upregulated in glioma cells and attenuates ferroptosis of glioma cells by targeting HSPB1 signaling.
The heat shock protein Hsp27 controls mitochondrial function by modulating ceramide generation.
Title: The heat shock protein Hsp27 controls mitochondrial function by modulating ceramide generation.
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
Title: Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
High HSPB1 expression predicts poor clinical outcomes and correlates with breast cancer metastasis.
Title: High HSPB1 expression predicts poor clinical outcomes and correlates with breast cancer metastasis.
Untangling the complexity of heat shock protein 27 in cancer and metastasis.
Title: Untangling the complexity of heat shock protein 27 in cancer and metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (473)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2F MedGen: C1847823 OMIM: 606595 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Neuronopathy, distal hereditary motor, type 2B MedGen: C2608087 OMIM: 608634 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2204 (e-PCR)
- UniSTS:65492

D7S2435 (e-PCR), detects polymorphism
- UniSTS:31456

G26375 (e-PCR)
- UniSTS:40684

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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 more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	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

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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)

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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

NG_008995.1 RefSeqGene

Range

5001..6740

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_248

mRNA and Protein(s)

NM_001540.5 → NP_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:84 → 169

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 ...