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Aliases for HSPH1 Gene

Aliases for HSPH1 Gene

  • Heat Shock Protein Family H (Hsp110) Member 1 2 3 5
  • Heat Shock 105kDa/110kDa Protein 1 2 3
  • Antigen NY-CO-25 3 4
  • HSP105 3 4
  • Heat Shock Protein 105 KDa 3
  • Heat Shock 110 KDa Protein 4
  • NY-CO-25 3
  • KIAA0201 4
  • HSP105A 3
  • HSP105B 3
  • HSP110 4

External Ids for HSPH1 Gene

Previous GeneCards Identifiers for HSPH1 Gene

  • GC13M025697
  • GC13M030645
  • GC13M029508
  • GC13M030608
  • GC13M031710
  • GC13M012522

Summaries for HSPH1 Gene

Entrez Gene Summary for HSPH1 Gene

  • 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]

CIViC summary for HSPH1 Gene

GeneCards Summary for HSPH1 Gene

HSPH1 (Heat Shock Protein Family H (Hsp110) Member 1) is a Protein Coding gene. Diseases associated with HSPH1 include Cystic Fibrosis. Among its related pathways are Protein processing in endoplasmic reticulum and Cellular response to heat stress. Gene Ontology (GO) annotations related to this gene include alpha-tubulin binding. An important paralog of this gene is HSPA4.

UniProtKB/Swiss-Prot for HSPH1 Gene

  • Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity).

Gene Wiki entry for HSPH1 Gene

Additional gene information for HSPH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPH1 Gene

Genomics for HSPH1 Gene

GeneHancer (GH) Regulatory Elements for HSPH1 Gene

Promoters and enhancers for HSPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I031159 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.3 +1.4 1385 4 PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B HSPH1 LOC105370148 B3GLCT WDR95P
GH13I031199 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 13.3 -37.5 -37452 2.4 ARNT SIN3A GLIS2 ZNF207 ZNF143 ATF7 RUNX3 REST ZNF592 GLIS1 B3GLCT HSPH1 GC13P031280
GH13I031207 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.2 -46.1 -46056 3 PKNOX1 INSM2 MZF1 FEZF1 ZNF2 ZNF335 GLIS2 ZNF213 ZNF366 SCRT2 B3GLCT HSPH1 TEX26 GC13P031280
GH13I031204 Enhancer 1 Ensembl ENCODE 11.2 -41.6 -41648 0.3 ATF1 PKNOX1 TCF12 GATA2 FOS ATF7 SMARCA5 ZNF398 TSHZ1 ZEB2 HSPH1 B3GLCT GC13P031280
GH13I031171 Enhancer 1 Ensembl ENCODE 8 -9.4 -9399 2.2 SOX13 FOXA2 SAP130 JUN CEBPG ZNF644 ZSCAN9 ETS1 TEAD3 FOSL2 B3GLCT HSPH1 LOC105370148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSPH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPH1 gene promoter:

Genomic Locations for HSPH1 Gene

Genomic Locations for HSPH1 Gene
chr13:31,134,974-31,163,109
(GRCh38/hg38)
Size:
28,136 bases
Orientation:
Minus strand
chr13:31,710,762-31,736,525
(GRCh37/hg19)

Genomic View for HSPH1 Gene

Genes around HSPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPH1 Gene

Proteins for HSPH1 Gene

  • Protein details for HSPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92598-HS105_HUMAN
    Recommended name:
    Heat shock protein 105 kDa
    Protein Accession:
    Q92598
    Secondary Accessions:
    • B4DYH1
    • O95739
    • Q5TBM6
    • Q5TBM7
    • Q5TBM8
    • Q9UPC4

    Protein attributes for HSPH1 Gene

    Size:
    858 amino acids
    Molecular mass:
    96865 Da
    Quaternary structure:
    • Interacts with HSPA8/HSC70 (By similarity). Interacts with HSPA1A (via NBD) and HSPA1B (via NBD) (PubMed:24318877).
    SequenceCaution:
    • Sequence=AAC18044.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA13192.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HSPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSPH1 Gene

Post-translational modifications for HSPH1 Gene

  • Phosphorylation on Ser-509 may be important for regulation of the HSPA8/HSC70 chaperone activity.
  • Ubiquitination at posLast=4444, posLast=5353, posLast=6868, posLast=9595, posLast=221221, posLast=234234, posLast=430430, posLast=458458, and isoforms=3, 4, 2790

No data available for DME Specific Peptides for HSPH1 Gene

Domains & Families for HSPH1 Gene

Gene Families for HSPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for HSPH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92598

UniProtKB/Swiss-Prot:

HS105_HUMAN :
  • Belongs to the heat shock protein 70 family.
Family:
  • Belongs to the heat shock protein 70 family.
genes like me logo Genes that share domains with HSPH1: view

Function for HSPH1 Gene

Molecular function for HSPH1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity).

Phenotypes From GWAS Catalog for HSPH1 Gene

Gene Ontology (GO) - Molecular Function for HSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000774 adenyl-nucleotide exchange factor activity TAS,IDA --
GO:0005515 protein binding IPI 17024176
GO:0005524 ATP binding IEA --
GO:0043014 alpha-tubulin binding IEA --
genes like me logo Genes that share ontologies with HSPH1: view

Phenotypes for HSPH1 Gene

genes like me logo Genes that share phenotypes with HSPH1: view

Animal Models for HSPH1 Gene

MGI Knock Outs for HSPH1:

Animal Model Products

CRISPR Products

miRNA for HSPH1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSPH1 Gene

Localization for HSPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPH1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPH1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 12952910
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 9931472
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with HSPH1: view

Pathways & Interactions for HSPH1 Gene

genes like me logo Genes that share pathways with HSPH1: view

Gene Ontology (GO) - Biological Process for HSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006986 response to unfolded protein TAS 9931472
GO:0045345 positive regulation of MHC class I biosynthetic process TAS 12952910
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
GO:0051085 chaperone cofactor-dependent protein refolding IEA --
genes like me logo Genes that share ontologies with HSPH1: view

No data available for SIGNOR curated interactions for HSPH1 Gene

Drugs & Compounds for HSPH1 Gene

(2) Drugs for HSPH1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12
genes like me logo Genes that share compounds with HSPH1: view

Transcripts for HSPH1 Gene

Unigene Clusters for HSPH1 Gene

Heat shock 105kDa/110kDa protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPH1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1:
SP2: -
SP3: -
SP4:
SP5: -
SP6: - - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:

Relevant External Links for HSPH1 Gene

GeneLoc Exon Structure for
HSPH1
ECgene alternative splicing isoforms for
HSPH1

Expression for HSPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HSPH1 Gene

This gene is overexpressed in Frontal cortex (8.7) and Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSPH1 Gene



Protein tissue co-expression partners for HSPH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPH1 Gene:

HSPH1

SOURCE GeneReport for Unigene cluster for HSPH1 Gene:

Hs.743267

mRNA Expression by UniProt/SwissProt for HSPH1 Gene:

Q92598-HS105_HUMAN
Tissue specificity: Highly expressed in testis. Present at lower levels in most brain regions, except cerebellum. Overexpressed in cancer cells.

Evidence on tissue expression from TISSUES for HSPH1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Lung(2.5)
  • Intestine(2.4)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with HSPH1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPH1 Gene

Orthologs for HSPH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPH1 33 34
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia HSPH1 33 34
  • 93.27 (n)
cow
(Bos Taurus)
Mammalia HSPH1 33 34
  • 91.3 (n)
mouse
(Mus musculus)
Mammalia Hsph1 33 16 34
  • 86.43 (n)
oppossum
(Monodelphis domestica)
Mammalia HSPH1 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsph1 33
  • 85.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPH1 34
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPH1 33 34
  • 78.12 (n)
lizard
(Anolis carolinensis)
Reptilia HSPH1 34
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7571 33
zebrafish
(Danio rerio)
Actinopterygii hsph1 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hsc70Cb 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hsp-110 34
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSE2 33 34 36
  • 50.78 (n)
SSE1 34
  • 40 (a)
ManyToMany
barley
(Hordeum vulgare)
Liliopsida Hv.3246 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9760 34
  • 44 (a)
OneToMany
Species where no ortholog for HSPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HSPH1 Gene

ENSEMBL:
Gene Tree for HSPH1 (if available)
TreeFam:
Gene Tree for HSPH1 (if available)

Paralogs for HSPH1 Gene

Paralogs for HSPH1 Gene

genes like me logo Genes that share paralogs with HSPH1: view

Variants for HSPH1 Gene

Sequence variations from dbSNP and Humsavar for HSPH1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs146520007 uncertain-significance, not specified 31,151,101(-) A/G coding_sequence_variant, missense_variant
rs774955562 uncertain-significance, not specified 31,150,061(-) C/A/T coding_sequence_variant, missense_variant
rs35594388 benign, not specified 31,148,484(-) AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAA intron_variant
rs1000123630 -- 31,160,021(-) T/C intron_variant
rs1000234118 -- 31,164,124(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPH1 Gene

Variant ID Type Subtype PubMed ID
esv2751142 CNV gain 17911159
esv2761783 CNV gain 21179565
esv3631692 CNV gain 21293372
esv3631693 CNV gain 21293372
nsv528568 CNV gain 19592680
nsv561399 CNV gain 21841781

Variation tolerance for HSPH1 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPH1 Gene

Human Gene Mutation Database (HGMD)
HSPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPH1 Gene

Disorders for HSPH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSPH1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
Search HSPH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HSPH1

genes like me logo Genes that share disorders with HSPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPH1 Gene

Publications for HSPH1 Gene

  1. Molecular cloning, expression and localization of human 105 kDa heat shock protein, hsp105. (PMID: 9931472) Ishihara K … Hatayama T (Biochimica et biophysica acta 1999) 2 3 4 22 58
  2. DNA vaccination of HSP105 leads to tumor rejection of colorectal cancer and melanoma in mice through activation of both CD4 T cells and CD8 T cells. (PMID: 16232202) Miyazaki M … Nishimura Y (Cancer science 2005) 3 4 22 58
  3. The distribution and localization of hsp110 in brain. (PMID: 10865058) Hylander BL … Subjeck JR (Brain research 2000) 3 4 22 58
  4. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan MJ … Old LJ (International journal of cancer 1998) 2 3 4 58
  5. Binding of human nucleotide exchange factors to heat shock protein 70 (Hsp70) generates functionally distinct complexes in vitro. (PMID: 24318877) Rauch JN … Gestwicki JE (The Journal of biological chemistry 2014) 3 4 58

Products for HSPH1 Gene

Sources for HSPH1 Gene

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