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Aliases for HSPE1 Gene

Aliases for HSPE1 Gene

  • Heat Shock Protein Family E (Hsp10) Member 1 2 3 5
  • Chaperonin 10 2 3 4
  • Heat Shock 10kD Protein 1 (Chaperonin 10) 2 3
  • Heat Shock 10kDa Protein 1 2 3
  • Early-Pregnancy Factor 3 4
  • 10 KDa Chaperonin 3 4
  • HSP10 3 4
  • CPN10 3 4
  • EPF 3 4
  • 10 KDa Heat Shock Protein, Mitochondrial 3
  • Early Pregnancy Factor 2
  • GROES 3

External Ids for HSPE1 Gene

Previous GeneCards Identifiers for HSPE1 Gene

  • GC02P196563
  • GC02P197078
  • GC02P198328
  • GC02P198567
  • GC02P198190
  • GC02P198073
  • GC02P190217

Summaries for HSPE1 Gene

Entrez Gene Summary for HSPE1 Gene

  • This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]

GeneCards Summary for HSPE1 Gene

HSPE1 (Heat Shock Protein Family E (Hsp10) Member 1) is a Protein Coding gene. Diseases associated with HSPE1 include Exocervical Carcinoma and Sennetsu Fever. Gene Ontology (GO) annotations related to this gene include chaperone binding.

UniProtKB/Swiss-Prot for HSPE1 Gene

  • Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:7912672, PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).

Gene Wiki entry for HSPE1 Gene

Additional gene information for HSPE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPE1 Gene

Genomics for HSPE1 Gene

GeneHancer (GH) Regulatory Elements for HSPE1 Gene

Promoters and enhancers for HSPE1 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
GH02I197495 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.8 -0.5 -485 7.5 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 GC02P197502 HSPE1 HSPE1-MOB4 HSPD1 SF3B1 NPM1P46 GTF3C3 RNU6-1029P ANKRD44 ENSG00000202434
GH02I197451 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -46.6 -46616 4.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 COQ10B HSPE1 HSPD1 ENSG00000202434 BOLL ANKRD44 PLCL1 RNU6-1029P
GH02I197460 Enhancer 0.6 ENCODE 11.7 -38.8 -38839 0.9 SMARCE1 FOXA2 SOX6 TEAD4 TAL1 CBFA2T3 KLF4 ZBTB40 FOXA1 ZNF217 SF3B1 HSPE1 HSPD1 ENSG00000202434 COQ10B GC02P197477
GH02I197426 Enhancer 0.5 dbSUPER 11 -72.9 -72863 1.7 PRDM6 ZSCAN16 HLF CEBPB CEBPG ENSG00000202434 HSPE1 HSPD1 GC02P197419 SF3B1
GH02I197428 Enhancer 0.4 dbSUPER 11 -70.9 -70876 0.9 ZNF121 ZNF146 FOXA2 ENSG00000202434 HSPE1 HSPD1 ANKRD44 COQ10B GC02P197419 SF3B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSPE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPE1 gene promoter:

Genomic Locations for HSPE1 Gene

Genomic Locations for HSPE1 Gene
chr2:197,499,994-197,503,463
(GRCh38/hg38)
Size:
3,470 bases
Orientation:
Plus strand
chr2:198,364,718-198,368,187
(GRCh37/hg19)

Genomic View for HSPE1 Gene

Genes around HSPE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPE1 Gene

Proteins for HSPE1 Gene

  • Protein details for HSPE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61604-CH10_HUMAN
    Recommended name:
    10 kDa heat shock protein, mitochondrial
    Protein Accession:
    P61604
    Secondary Accessions:
    • O95421
    • Q04984
    • Q53X54
    • Q9UDH0

    Protein attributes for HSPE1 Gene

    Size:
    102 amino acids
    Molecular mass:
    10932 Da
    Quaternary structure:
    • Homoheptamer arranged in a ring structure (PubMed:25918392). 2 heptameric Hsp10 rings interact with a Hsp60 tetradecamer in the structure of a back-to-back double heptameric ring to form the symmetrical football complex (PubMed:25918392).

    Three dimensional structures from OCA and Proteopedia for HSPE1 Gene

neXtProt entry for HSPE1 Gene

Post-translational modifications for HSPE1 Gene

  • Ubiquitination at isoforms=8 and isoforms=28
  • Modification sites at PhosphoSitePlus

Other Protein References for HSPE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HSPE1 Gene

Domains & Families for HSPE1 Gene

Gene Families for HSPE1 Gene

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

Protein Domains for HSPE1 Gene

Suggested Antigen Peptide Sequences for HSPE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P61604

UniProtKB/Swiss-Prot:

CH10_HUMAN :
  • Belongs to the GroES chaperonin family.
Family:
  • Belongs to the GroES chaperonin family.
genes like me logo Genes that share domains with HSPE1: view

Function for HSPE1 Gene

Molecular function for HSPE1 Gene

UniProtKB/Swiss-Prot Function:
Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:7912672, PubMed:1346131, PubMed:11422376). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable).
UniProtKB/Swiss-Prot Induction:
By stress.

Phenotypes From GWAS Catalog for HSPE1 Gene

Gene Ontology (GO) - Molecular Function for HSPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0005515 protein binding IPI 9989505
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IBA --
GO:0051082 unfolded protein binding IBA,NAS 7916212
genes like me logo Genes that share ontologies with HSPE1: view

Phenotypes for HSPE1 Gene

genes like me logo Genes that share phenotypes with HSPE1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HSPE1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HSPE1 Gene

Localization for HSPE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPE1 Gene

Mitochondrion matrix.

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 HSPE1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HSPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix IBA --
GO:0016020 membrane IDA,HDA 16210410
GO:0070062 extracellular exosome IDA,HDA 20458337
genes like me logo Genes that share ontologies with HSPE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSPE1 Gene

Pathways & Interactions for HSPE1 Gene

SuperPathways for HSPE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006457 protein folding IEA,TAS 7698325
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS 10205158
GO:0006986 response to unfolded protein TAS 7698325
GO:0051085 chaperone cofactor-dependent protein refolding IBA --
genes like me logo Genes that share ontologies with HSPE1: view

No data available for Pathways by source and SIGNOR curated interactions for HSPE1 Gene

Drugs & Compounds for HSPE1 Gene

(14) Drugs for HSPE1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12

(10) Additional Compounds for HSPE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HSPE1: view

Transcripts for HSPE1 Gene

Unigene Clusters for HSPE1 Gene

Heat shock 10kDa protein 1 (chaperonin 10):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPE1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for HSPE1 Gene

GeneLoc Exon Structure for
HSPE1
ECgene alternative splicing isoforms for
HSPE1

Expression for HSPE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPE1 Gene

mRNA differential expression in normal tissues according to GTEx for HSPE1 Gene

This gene is overexpressed in Liver (x4.2) and Adrenal Gland (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSPE1 Gene



Protein tissue co-expression partners for HSPE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPE1 Gene:

HSPE1

SOURCE GeneReport for Unigene cluster for HSPE1 Gene:

Hs.1197

Evidence on tissue expression from TISSUES for HSPE1 Gene

  • Liver(4.8)
  • Nervous system(4.7)
  • Blood(4.5)
  • Heart(3.3)
  • Kidney(3.1)
  • Spleen(3)
  • Intestine(2.9)
  • Muscle(2.9)
  • Adrenal gland(2.3)
  • Lung(2.2)
  • Pancreas(2)
  • Skin(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with HSPE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPE1 Gene

Orthologs for HSPE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSPE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPE1 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSPE1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSPE1 33 34
  • 93.14 (n)
dog
(Canis familiaris)
Mammalia HSPE1 33 34
  • 92.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPE1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hspe1 33 16 34
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Hspe1 33
  • 89.54 (n)
chicken
(Gallus gallus)
Aves HSPE1 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPE1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspe1 33
  • 78.1 (n)
Str.10777 33
zebrafish
(Danio rerio)
Actinopterygii hspe1 33 34
  • 70.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11267 34
  • 52 (a)
OneToMany
CG9920 34
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y22D7AL.10 35 33 34
  • 60.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09307g 33
  • 50.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSP10 33 34 36
  • 50 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL235W 33
  • 45.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CPN10 33
  • 53.62 (n)
rice
(Oryza sativa)
Liliopsida Os07g0641700 33
  • 52.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04334 33
  • 50.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hsp10 33
  • 48.94 (n)
Species where no ortholog for HSPE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPE1 Gene

ENSEMBL:
Gene Tree for HSPE1 (if available)
TreeFam:
Gene Tree for HSPE1 (if available)

Paralogs for HSPE1 Gene

No data available for Paralogs for HSPE1 Gene

Variants for HSPE1 Gene

Sequence variations from dbSNP and Humsavar for HSPE1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1050347 conflicting-interpretations-of-pathogenicity, benign, not specified, Spastic Paraplegia, Dominant 197,498,780(+) A/G upstream_transcript_variant
rs1052453050 uncertain-significance, Spastic Paraplegia, Dominant 197,499,907(+) G/C upstream_transcript_variant
rs11551346 benign, likely-benign, not specified, Spastic Paraplegia, Dominant, Spastic paraplegia 197,498,705(+) G/A/C upstream_transcript_variant
rs11551349 uncertain-significance, benign, likely-benign, not provided, not specified, Spastic paraplegia, Spastic Paraplegia, Dominant 197,498,822(+) G/A/C upstream_transcript_variant
rs13165 benign, not specified, Spastic Paraplegia, Dominant 197,499,794(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPE1 Gene

Variant ID Type Subtype PubMed ID
nsv1014881 CNV gain 25217958
nsv961921 CNV duplication 23825009
nsv979161 CNV duplication 23825009

Variation tolerance for HSPE1 Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPE1 Gene

Human Gene Mutation Database (HGMD)
HSPE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPE1 Gene

Disorders for HSPE1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HSPE1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
exocervical carcinoma
  • carcinoma of exocervix
sennetsu fever
  • sennetsu ehrlichiosis
carrion's disease
  • carrion disease
leukodystrophy, hypomyelinating, 4
  • hld4
bacillary angiomatosis
  • angiomatosis, bacillary
- elite association - COSMIC cancer census association via MalaCards
Search HSPE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HSPE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSPE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSPE1 Gene

Publications for HSPE1 Gene

  1. Identification and cloning of human chaperonin 10 homologue. (PMID: 7914093) Monzini N … Modena D (Biochimica et biophysica acta 1994) 2 3 4 22 58
  2. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. (PMID: 12483302) Hansen JJ … Gregersen N (Human genetics 2003) 3 4 22 58
  3. Expression in Escherichia coli, purification and functional activity of recombinant human chaperonin 10. (PMID: 7698325) Legname G … Modena D (FEBS letters 1995) 2 3 22 58
  4. The purification of early-pregnancy factor to homogeneity from human platelets and identification as chaperonin 10. (PMID: 7912672) Cavanagh AC … Morton H (European journal of biochemistry 1994) 3 4 22 58
  5. Isolation, sequence analysis and characterization of a cDNA encoding human chaperonin 10. (PMID: 7916212) Chen JJ … Androphy EJ (Biochimica et biophysica acta 1994) 3 4 22 58

Products for HSPE1 Gene

Sources for HSPE1 Gene

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