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HSPH1 heat shock protein family H (Hsp110) member 1 [ Homo sapiens (human) ]

Gene ID: 10808, updated on 28-Oct-2024

Summary

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Official Symbol
HSPH1provided by HGNC
Official Full Name
heat shock protein family H (Hsp110) member 1provided by HGNC
Primary source
HGNC:HGNC:16969
See related
Ensembl:ENSG00000120694 MIM:610703; AllianceGenome:HGNC:16969
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
HSP105; HSP105A; HSP105B; NY-CO-25
Summary
This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]
Expression
Broad expression in brain (RPKM 32.5), testis (RPKM 30.3) and 25 other tissues See more
Orthologs
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Genomic context

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See HSPH1 in Genome Data Viewer
Location:
13q12.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (31134973..31162388, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (30358018..30385432, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (31709110..31736525, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723392 Neighboring gene Sharpr-MPRA regulatory region 1526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:31664078-31664646 Neighboring gene WD repeat domain 95, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:31735135-31735680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:31735681-31736226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7551 Neighboring gene uncharacterized LOC105370148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:31783127-31783654 Neighboring gene beta 3-glucosyltransferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:31876110-31876722 Neighboring gene ankyrin repeat domain 26 pseudogene 4

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 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. Dominant high expression of wild-type HSP110 defines a poor prognostic subgroup of colorectal carcinomas with microsatellite instability: a whole-section immunohistochemical analysis. Oh HJ, et al. APMIS, 2017 Dec. PMID 28971530
  2. Patients with colorectal tumors with microsatellite instability and large deletions in HSP110 T17 have improved response to 5-fluorouracil–based chemotherapy. Collura A, et al. Gastroenterology, 2014 Feb. PMID 24512910
  3. Functional differences between Hsp105/110 family proteins in cell proliferation, cell division, and drug sensitivity. Teshima H, et al. J Cell Biochem, 2021 Dec. PMID 34617313
  4. HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer. Buhard O, et al. J Med Genet, 2016 Jun. PMID 26831756
  5. HSP110 sustains chronic NF-κB signaling in activated B-cell diffuse large B-cell lymphoma through MyD88 stabilization. Boudesco C, et al. Blood, 2018 Aug 2. PMID 29871863

See all (261) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Extracellular vesicles related gene HSPH1 exerts anti-tumor effects in prostate cancer via promoting the stress response of CD8 + T cells.
    Title: Extracellular vesicles related gene HSPH1 exerts anti-tumor effects in prostate cancer via promoting the stress response of CD8 + T cells.
  2. Functional differences between Hsp105/110 family proteins in cell proliferation, cell division, and drug sensitivity.
    Title: Functional differences between Hsp105/110 family proteins in cell proliferation, cell division, and drug sensitivity.
  3. HSP105 expression in cutaneous malignant melanoma: Correlation with clinicopathological characteristics.
    Title: HSP105 expression in cutaneous malignant melanoma: Correlation with clinicopathological characteristics.
  4. Oncogene HSPH1 modulated by the rs2280059 genetic variant diminishes EGFR-TKIs efficiency in advanced lung adenocarcinoma.
    Title: Oncogene HSPH1 modulated by the rs2280059 genetic variant diminishes EGFR-TKIs efficiency in advanced lung adenocarcinoma.
  5. HSP105 expression in oral squamous cell carcinoma: Correlation with clinicopathological features and outcomes.
    Title: HSP105 expression in oral squamous cell carcinoma: Correlation with clinicopathological features and outcomes.
  6. Hsp105 is required for the activation of spindle assembly checkpoint under heat shock-induced mitotic arrest.
    Title: Heat shock-induced mitotic arrest requires heat shock protein 105 for the activation of spindle assembly checkpoint.
  7. High HSP110 is associated with B-cell diffuse large B-cell lymphoma through regulating NF-kappaB signaling and MyD88 stabilization.
    Title: HSP110 sustains chronic NF-κB signaling in activated B-cell diffuse large B-cell lymphoma through MyD88 stabilization.
  8. HSP110 through its interaction with the Ku70/80 heterodimer may participate in DNA repair.
    Title: HSP110 translocates to the nucleus upon genotoxic chemotherapy and promotes DNA repair in colorectal cancer cells.
  9. expression not an independent prognostic factor in gastric cancer patients with peritoneal metastasis, but might be a new marker of chemosensitivity
    Title: Nuclear heat shock protein 110 expression is associated with poor prognosis and hyperthermo-chemotherapy resistance in gastric cancer patients with peritoneal metastasis.
  10. Established heat shock protein 110 (HSP110) as a prognostic biomarker of colorectal carcinomas (CRCs) with microsatellite instability-high (MSI-H) by considering the intratumoral heterogeneity of HSP110 expression. The HSP110wt-low MSI-H CRCs were significantly correlated with larger deletions in the HSP110 T17 mononucleotide repeat (>/=4 bp; p < 0.001).
    Title: Dominant high expression of wild-type HSP110 defines a poor prognostic subgroup of colorectal carcinomas with microsatellite instability: a whole-section immunohistochemical analysis.
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

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with heat shock 105kDa/110kDa protein 1 (HSPH1; HSP105) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with heat shock 105kDa/110kDa protein 1 (HSPH1; HSP105) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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

Homology

Clone Names

  • KIAA0201, DKFZp686M05240

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
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
  
enables adenyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MHC class I biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of NK T cell activation TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to unfolded protein TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
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 cytosol TAS
Traceable Author Statement
more info
  
located_in endocytic vesicle lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
heat shock protein 105 kDa
Names
antigen NY-CO-25
heat shock 105kDa/110kDa protein 1
heat shock protein family H member 1

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

  1. NG_053051.1 RefSeqGene

    Range
    6206..33137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286503.2 → NP_001273432.1  heat shock protein 105 kDa isoform 2

    See identical proteins and their annotated locations for NP_001273432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2, also known as Hsp105beta) is shorter than isoform 1.
    Source sequence(s)
    AB003333, AL137142, BC037553, DB077644
    Consensus CDS
    CCDS66525.1
    UniProtKB/TrEMBL
    B4DF68
    Related
    ENSP00000369768.4, ENST00000380405.7
    Conserved Domains (1) summary
    cd11739
    Location:2 → 384
    HSPH1_NBD; Nucleotide-binding domain of HSPH1

  2. NM_001286504.1 → NP_001273433.1  heat shock protein 105 kDa isoform 3

    See identical proteins and their annotated locations for NP_001273433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK302430, AL137142, BC037553, DB069199
    Consensus CDS
    CCDS66526.1
    UniProtKB/TrEMBL
    B4DF68
    Related
    ENSP00000487365.1, ENST00000630972.2
    Conserved Domains (1) summary
    cl17037
    Location:39 → 386
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  3. NM_001286505.1 → NP_001273434.1  heat shock protein 105 kDa isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK302294, AK302430, AL137142, BC037553, DB069199
    Consensus CDS
    CCDS73559.1
    UniProtKB/TrEMBL
    A0A0A0MSM0, B4DY72
    Related
    ENSP00000396090.3, ENST00000445273.6
    Conserved Domains (2) summary
    cl17037
    Location:39 → 308
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    cl26953
    Location:39 → 632
    HSP70; Hsp70 protein

  4. NM_001349704.2 → NP_001336633.1  heat shock protein 105 kDa isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes an alternate intron in its 3' coding region and differs in the 3' UTR compared to variant 1. The encoded isoform (5) has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL137142
    UniProtKB/TrEMBL
    B4DF68
    Conserved Domains (1) summary
    cd11739
    Location:2 → 384
    HSPH1_NBD; Nucleotide-binding domain of HSPH1

  5. NM_006644.4 → NP_006635.2  heat shock protein 105 kDa isoform 1

    See identical proteins and their annotated locations for NP_006635.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1, also known as Hsp105alpha.
    Source sequence(s)
    AL137142, BC037553, CD251908
    Consensus CDS
    CCDS9340.1
    UniProtKB/Swiss-Prot
    B4DYH1, O95739, Q5TBM6, Q5TBM7, Q5TBM8, Q92598, Q9UPC4
    UniProtKB/TrEMBL
    B4DF68
    Related
    ENSP00000318687.5, ENST00000320027.10
    Conserved Domains (1) summary
    cd11739
    Location:2 → 384
    HSPH1_NBD; Nucleotide-binding domain of HSPH1

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

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    31134973..31162388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020362.3 → XP_016875851.1  heat shock protein 105 kDa isoform X3

    UniProtKB/TrEMBL
    B4DF68

  2. XM_005266236.3 → XP_005266293.1  heat shock protein 105 kDa isoform X2

    See identical proteins and their annotated locations for XP_005266293.1

    UniProtKB/TrEMBL
    B4DF68
    Conserved Domains (2) summary
    pfam00012
    Location:39 → 666
    HSP70; Hsp70 protein
    cl17037
    Location:39 → 386
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  3. XM_011534887.4 → XP_011533189.1  heat shock protein 105 kDa isoform X1

    UniProtKB/TrEMBL
    B4DF68
    Conserved Domains (2) summary
    pfam00012
    Location:39 → 710
    HSP70; Hsp70 protein
    cl17037
    Location:39 → 386
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  4. XM_017020364.3 → XP_016875853.1  heat shock protein 105 kDa isoform X7

    UniProtKB/TrEMBL
    B4DY72

  5. XM_047430058.1 → XP_047286014.1  heat shock protein 105 kDa isoform X6

  6. XM_011534888.3 → XP_011533190.1  heat shock protein 105 kDa isoform X5

    UniProtKB/TrEMBL
    B4DY72
    Conserved Domains (2) summary
    pfam00012
    Location:3 → 630
    HSP70; Hsp70 protein
    cl17037
    Location:2 → 306
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  7. XM_017020363.3 → XP_016875852.1  heat shock protein 105 kDa isoform X4

    UniProtKB/TrEMBL
    B4DF68

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    30358018..30385432 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374039.1 → XP_054230014.1  heat shock protein 105 kDa isoform X3

  2. XM_054374038.1 → XP_054230013.1  heat shock protein 105 kDa isoform X2

  3. XM_054374037.1 → XP_054230012.1  heat shock protein 105 kDa isoform X1

  4. XM_054374043.1 → XP_054230018.1  heat shock protein 105 kDa isoform X7

  5. XM_054374042.1 → XP_054230017.1  heat shock protein 105 kDa isoform X6

  6. XM_054374041.1 → XP_054230016.1  heat shock protein 105 kDa isoform X5

  7. XM_054374040.1 → XP_054230015.1  heat shock protein 105 kDa isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92598.1 GenPept UniProtKB/Swiss-Prot:Q92598

Gene LinkOut

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