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

Summary

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: mouse all
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Genomic context

Location:: 13q12.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (31134973..31162388, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (30358018..30385432, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (31709110..31736525, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.
HSP105 expression in cutaneous malignant melanoma: Correlation with clinicopathological characteristics.
Title: HSP105 expression in cutaneous malignant melanoma: Correlation with clinicopathological characteristics.
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.
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.
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.
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.
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.
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.
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.
HSP110 HT17 alone correctly classified samples judged to be uncertain with the pentaplex panel.
Title: HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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)

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

A002P33 (e-PCR)
- UniSTS:42763

HSC2EB012 (e-PCR)
- UniSTS:7952

RH25414 (e-PCR)
- UniSTS:19741

D13S1287 (e-PCR), detects polymorphism
- UniSTS:63282

A004B05 (e-PCR)
- UniSTS:59478

D13S903 (e-PCR)
- UniSTS:6513

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 more info	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

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

NG_053051.1 RefSeqGene

Range

6206..33137

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

31134973..31162388 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DF68
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
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
XM_017020364.3 → XP_016875853.1 heat shock protein 105 kDa isoform X7

UniProtKB/TrEMBL

B4DY72
XM_047430058.1 → XP_047286014.1 heat shock protein 105 kDa isoform X6
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
XM_017020363.3 → XP_016875852.1 heat shock protein 105 kDa isoform X4

UniProtKB/TrEMBL

B4DF68