HSPA1L heat shock protein family A (Hsp70) member 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPA1Lprovided by HGNC
Official Full Name: heat shock protein family A (Hsp70) member 1 likeprovided by HGNC
Primary source: HGNC:HGNC:5234
See related: Ensembl:ENSG00000204390 MIM:140559; AllianceGenome:HGNC:5234
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: HSP70T; hum70t; HSP70-1L; HSP70-HOM
Summary: This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 35.8) and ovary (RPKM 2.3) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31809619..31815283, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31662676..31668340, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31777396..31783060, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of the heat shock protein 70 (HSP70) genetic variants in nonsegmental vitiligo patients.
Title: Analysis of the heat shock protein 70 (HSP70) genetic variants in nonsegmental vitiligo patients.
Expressions of HSPA1L and HSPA9 are associated with poor sperm quality of low-motility spermatozoa in fertile men.
Title: Expressions of HSPA1L and HSPA9 are associated with poor sperm quality of low-motility spermatozoa in fertile men.
Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
Title: Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth.
A Vaspin-HSPA1L complex protects proximal tubular cells from organelle stress in diabetic kidney disease.
Title: A Vaspin-HSPA1L complex protects proximal tubular cells from organelle stress in diabetic kidney disease.
Association of polymorphism in heat shock protein 70 genes with type 2 diabetes in Bangladeshi population.
Title: Association of polymorphism in heat shock protein 70 genes with type 2 diabetes in Bangladeshi population.
HSPA1L rs1061581 polymorphism is associated with the risk of preeclampsia in Han Chinese women.
Title: HSPA1L rs1061581 polymorphism is associated with the risk of preeclampsia in Han Chinese women.
HSPA1L Enhances Cancer Stem Cell-Like Properties by Activating IGF1Rbeta and Regulating beta-Catenin Transcription.
Title: HSPA1L Enhances Cancer Stem Cell-Like Properties by Activating IGF1Rβ and Regulating β-Catenin Transcription.
HSPA1L rs2227956 and HSPA1B rs1061581 gene polymorphisms are associated with susceptibility to idiopathic male infertility in Iranian population.
Title: HSPA1L and HSPA1B gene polymorphisms and haplotypes are associated with idiopathic male infertility in Iranian population.
Support for previously reported associations between HSPA1A and HSPA1B SNPs and schizophrenia symptomatology.
Title: Association Studies of HSPA1A and HSPA1L Gene Polymorphisms With Schizophrenia.
Whole exome sequencing identified multiple rare, likely damaging HSPA1L variants in several families of northern Finnish origin affected by recurrent spontaneous preterm births, and this gene was associated with the glucocorticoid receptor signaling pathway.
Title: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 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	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 1-like (HSPA1L), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 1-like (HSPA1L), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 1-like (HSPA1L), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify heat shock 70kDa protein 1-like (HSPA1L), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	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

PMC138289P2 (e-PCR)
- UniSTS:270866

PMC314357P1 (e-PCR)
- UniSTS:272944

RH35868 (e-PCR)
- UniSTS:32563

N3_2_5 (e-PCR)
- UniSTS:239178

RH12516 (e-PCR)
- UniSTS:3661

HSPA1L__1180 (e-PCR)
- UniSTS:277332

HSPA1L__v323 (e-PCR)
- UniSTS:277332

PMC125271P2 (e-PCR)
- UniSTS:270488

PMC134733P1 (e-PCR)
- UniSTS:270749

PMC125702P4 (e-PCR)
- UniSTS:270510

STS-M59829 (e-PCR)
- UniSTS:46008

PMC196894P1 (e-PCR)
- UniSTS:271822

PMC117401P1 (e-PCR)
- UniSTS:270334

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-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
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 ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
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 cell body	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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 mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	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
part_of zona pellucida receptor complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: heat shock 70 kDa protein 1-like

Names: epididymis secretory sperm binding protein; heat shock 10kDa protein 1-like; heat shock 70 kDa protein 1-Hom; heat shock 70 kDa protein 1L; heat shock 70kD protein-like 1; heat shock 70kDa protein 1-like; heat shock protein family A member 1L

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.