HSPA4L heat shock protein family A (Hsp70) member 4 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPA4Lprovided by HGNC
Official Full Name: heat shock protein family A (Hsp70) member 4 likeprovided by HGNC
Primary source: HGNC:HGNC:17041
See related: Ensembl:ENSG00000164070 MIM:619077; AllianceGenome:HGNC:17041
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: APG1; APG-1; HSPH3; Osp94
Summary: The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Biased expression in testis (RPKM 41.4), esophagus (RPKM 5.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q28.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (127781796..127840733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (131084803..131143731)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (128702951..128761888)

Chromosome 4 - NC_000004.12 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: 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?

Apg-1 knockdown sensitized myeloma cells to bortezomib treatment, which may provide a new approach in multiple myeloma treatment.
Title: Role of Apg-1 in HSF1 activation and bortezomib sensitivity in myeloma cells.
decreased expression of HSPA4L in immature and asthenozoospermic spermatozoa was validated by western blot analysis. Functional analysis revealed a correlation between HSPA4L and sperm motility by Spearman correlation analysis and its involvement in sperm-oocyte penetration by the human sperm-hamster egg penetration test.
Title: Decreased expression of heat shock protein A4L in spermatozoa is positively related to poor human sperm quality.
Findings indicate that miR-497 is a potent tumor suppressor that inhibits cancer phenotypes by targeting ANLN and HSPA4L in NPC.
Title: The potent tumor suppressor miR-497 inhibits cancer phenotypes in nasopharyngeal carcinoma by targeting ANLN and HSPA4L.
HSP40 and HSP110 function together in protein homeostasis control.
Title: Suppression of polyglutamine protein toxicity by co-expression of a heat-shock protein 40 and a heat-shock protein 110.
Human molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm.
Title: Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm.
Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis.
Title: Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
a novel autocrine pathway of CD1d regulation by Hsp110.
Title: Intestinal heat shock protein 110 regulates expression of CD1d on intestinal epithelial cells.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33318 (e-PCR)
- UniSTS:77107

D4S587 (e-PCR)
- UniSTS:48502

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables adenyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to unfolded protein	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: heat shock 70 kDa protein 4L

Names: HSPA4-like protein; heat shock 70 kDa protein 4-like protein; heat shock 70-related protein APG-1; heat shock 70kDa protein 4-like; heat shock protein (hsp110 family); heat shock protein family H member 3; heat-shock protein family A member 4-like protein; osmotic stress protein 94; testis tissue sperm-binding protein Li 64n

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.

mRNA and Protein(s)

NM_001317381.2 → NP_001304310.1 heat shock 70 kDa protein 4L isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is longer at the N-terminus compared to isoform 1.

Source sequence(s)

AC093591, AK303053, BC040560, BM679019

UniProtKB/TrEMBL

B4DZR0

Conserved Domains (2) summary

cd11738
Location:33 → 415

HSPA4L_NBD; Nucleotide-binding domain of HSPA4L

pfam00012
Location:34 → 725

HSP70; Hsp70 protein
NM_001317382.2 → NP_001304311.1 heat shock 70 kDa protein 4L isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate first exon compared to variant 1.The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC093591, AK302115, BC040560, BM679019, DB086945

Consensus CDS

CCDS82953.1

UniProtKB/TrEMBL

B4DXT2, E9PDE8

Related

ENSP00000425645.1, ENST00000505726.1

Conserved Domains (2) summary

pfam00012
Location:11 → 668

HSP70; Hsp70 protein

cl17037
Location:11 → 358

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_001317383.2 → NP_001304312.1 heat shock 70 kDa protein 4L isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC093591, AK307464, BC040560, BM679019

UniProtKB/TrEMBL

Q53ZP9

Conserved Domains (2) summary

pfam00012
Location:3 → 653

HSP70; Hsp70 protein

cl17037
Location:2 → 343

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_014278.4 → NP_055093.2 heat shock 70 kDa protein 4L isoform 1

See identical proteins and their annotated locations for NP_055093.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

AC093591, BC040560, BM679019

Consensus CDS

CCDS3734.1

UniProtKB/Swiss-Prot

A2ICT2, O95757, Q4W5M5, Q8IWA2

UniProtKB/TrEMBL

A0A140VKE7, Q53ZP9

Related

ENSP00000296464.3, ENST00000296464.9

Conserved Domains (1) summary

cd11738
Location:2 → 384

HSPA4L_NBD; Nucleotide-binding domain of HSPA4L

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

127781796..127840733

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531745.4 → XP_011530047.1 heat shock 70 kDa protein 4L isoform X1

UniProtKB/TrEMBL

B3KNM0

Conserved Domains (2) summary

PRK13929
Location:4 → 375

PRK13929; rod-share determining protein MreBH; Provisional

cd11738
Location:2 → 384

HSPA4L_NBD; Nucleotide-binding domain of HSPA4L