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

Gene ID: 22824, updated on 7-Apr-2024

Summary

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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
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Genomic context

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See HSPA4L in Genome Data Viewer
Location:
4q28.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127781796..127840733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131084803..131143731)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128702951..128761888)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:128553760-128554299 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128576502-128577102 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128577103-128577701 Neighboring gene inturned planar cell polarity protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:128651275-128651432 Neighboring gene solute carrier family 25 member 31 Neighboring gene uncharacterized LOC105377414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128703547-128704539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21886 Neighboring gene SOSS complex subunit C-like Neighboring gene ribosomal protein L21 pseudogene 53 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:128767199-128767740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73815 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73859 Neighboring gene polo like kinase 4 Neighboring gene major facilitator superfamily domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15677 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128886145-128886760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15678 Neighboring gene abhydrolase domain containing 18

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. Decreased expression of heat shock protein A4L in spermatozoa is positively related to poor human sperm quality. Liu X, et al. Mol Reprod Dev, 2019 Apr. PMID 30637842
  2. Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm. Song Y, et al. Proc Natl Acad Sci U S A, 2013 Apr 2. PMID 23509252, Free PMC Article
  3. Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis. Dorard C, et al. Nat Med, 2011 Sep 25. PMID 21946539
  4. Molecular cloning of OSP94: A significant biomarker protein of hypertensive human heart and a member of HSP110 family. Mala JG, et al. Mol Biotechnol, 2009 Jun. PMID 19169850
  5. Identification of an overexpressed gene, HSPA4L, the product of which can provoke prevalent humoral immune responses in leukemia patients. Takahashi H, et al. Exp Hematol, 2007 Jul. PMID 17588478

See all (116) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  8. a novel autocrine pathway of CD1d regulation by Hsp110.
    Title: Intestinal heat shock protein 110 regulates expression of CD1d on intestinal epithelial cells.
Submit: New GeneRIF Correction

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

Pathways from PubChem

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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

Homology

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 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)

  1. 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

  2. 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

  3. 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

  4. 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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    127781796..127840733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    131084803..131143731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349269.1 → XP_054205244.1  heat shock 70 kDa protein 4L isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95757.3 GenPept UniProtKB/Swiss-Prot:O95757

Gene LinkOut

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