HSPA6 heat shock protein family A (Hsp70) member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPA6provided by HGNC
Official Full Name: heat shock protein family A (Hsp70) member 6provided by HGNC
Primary source: HGNC:HGNC:5239
See related: Ensembl:ENSG00000173110 MIM:140555; AllianceGenome:HGNC:5239
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSP70B'
Summary: Enables several functions, including ATP hydrolysis activity; heat shock protein binding activity; and unfolded protein binding activity. Involved in cellular response to heat and protein refolding. Located in COP9 signalosome; centriole; and cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 1q23.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161524540..161526894)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160787168..160789522)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161494330..161496684)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ROR2 deficit may induce the tetralogy of Fallot via down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo.
Title: ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.
PP4R1 accelerates the malignant progression of NSCLC via up-regulating HSPA6 expression and HSPA6-mediated ER stress.
Title: PP4R1 accelerates the malignant progression of NSCLC via up-regulating HSPA6 expression and HSPA6-mediated ER stress.
BARX1 promotes osteosarcoma cell proliferation and invasion by regulating HSPA6 expression.
Title: BARX1 promotes osteosarcoma cell proliferation and invasion by regulating HSPA6 expression.
HSPA6 and its role in cancers and other diseases.
Title: HSPA6 and its role in cancers and other diseases.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Title: Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Alterations in Proteostasis System Components in Peripheral Blood Mononuclear Cells in Parkinson Disease: Focusing on the HSP70 and p62 Levels.
Title: Alterations in Proteostasis System Components in Peripheral Blood Mononuclear Cells in Parkinson Disease: Focusing on the HSP70 and p62 Levels.
Increased systemic HSP70B levels in spinal muscular atrophy infants.
Title: Increased systemic HSP70B levels in spinal muscular atrophy infants.
HSPA6 is a cigarette smoke-induced ulcerative colitis (UC)-susceptibility gene. The HSPA6 risk locus is associated with decreased HSPA6 expression. HSPA6 provides epithelial protection by stabilizing anti-apoptotic Bcl-XL, thereby contributing to the beneficial effect of cigarette smoking in UC.
Title: HSPA6 is an ulcerative colitis susceptibility factor that is induced by cigarette smoke and protects intestinal epithelial cells by stabilizing anti-apoptotic Bcl-XL.
that HSPA6 and HSPA1A contribute to protection of differentiated human neuronal cells from cellular stress
Title: Knockdown of Heat Shock Proteins HSPA6 (Hsp70B') and HSPA1A (Hsp70-1) Sensitizes Differentiated Human Neuronal Cells to Cellular Stress.
during recovery from neuronal stress, HSPA6 localized with perispeckles that have been characterized as transcription sites; the stress-induced association of HSPA6 with perispeckles displayed the greatest dynamism compared to the interaction of HSPA6 or HSPA1A with other stress-sensitive cytoplasmic and nuclear structures; this suggests involvement of HSPA6 in recovery of neurons from cellular stress
Title: Dynamics of the association of heat shock protein HSPA6 (Hsp70B') and HSPA1A (Hsp70-1) with stress-sensitive cytoplasmic and nuclear structures in differentiated human neuronal cells.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

EBI GWAS Catalog

Description
Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of genetic loci associated with Helicobacter pylori serologic status. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Envelope surface glycoprotein gp120	env	HIV-1 gp160 is identified to have a physical interaction with heat shock 70kDa protein 6 (HSPA6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
	env	Over expression of hsp70 with a herpes viral amplicon vector protects cultured hippocampal rat neurons from gp120 neurotoxicity	PubMed
	env	The exposure of permissive CD4+ cells to HIV-1 gp120 increases the synthesis and nuclear translocation of 70kDa heat shock protein	PubMed
Nef	nef	Heat shock proteins Hsp40 and Hsp70 interact with HIV-1 Nef and form a complex in cells	PubMed
Pr55(Gag)	gag	Hsp70 is incorporated into HIV-1 virions through an interaction with HIV-1 Gag	PubMed
	gag	Hsp70 co-sediments with HIV-1 capsid protein in sucrose density gradients, providing evidence that it is specifically incorporated into HIV-1 virions through an interaction with HIV-1 Gag proteins	PubMed
Tat	tat	HIV-1 and the viral protein Tat modulate the expression of heat shock 70kDa protein 6 (HSPA6; HSP70B') in immature dendritic cells and monocyte-derived macrophages	PubMed
	tat	Hsp70 and Hsp90 and Cdc37 regulate the stabilization and folding of CDK9 as well as the assembly of an active CDK9/cyclin T1 complex responsible for P-TEFb-mediated HIV-1 Tat transactivation	PubMed
Vpr	vpr	HIV-1 Vpr is required for the inhibitory effect of Hsp70 on viral gene expression and replication	PubMed
	vpr	HIV-1 Vpr competes with Hsp70 for binding to karyopherin alpha	PubMed
matrix	gag	Hsp70 facilitates nuclear import of HIV-1 preintegration complexes by stimulating the binding of HIV-1 Matrix to karyopherin alpha	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70826 (e-PCR)
- UniSTS:70149

STS-X51758 (e-PCR)
- UniSTS:44909

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables heat shock 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	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
NOT involved_in cellular heat acclimation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to heat	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in blood microparticle	HDA more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
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 cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: heat shock 70 kDa protein 6

Names: epididymis secretory sperm binding protein; heat shock 70 kDa protein B'; heat shock 70kD protein 6 (HSP70B'); heat shock 70kDa protein 6 (HSP70B'); heat shock protein family A member 6

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.