HSPE1 (heat shock protein family E (Hsp10) member 1)

Gene

• Entrez ID: 3336
• Gene name: Heat shock protein family E (Hsp10) member 1
• Gene symbol: HSPE1
• Synonyms (NCBI Gene): CPN10, EPF, GROES, HSP10
• Chromosome: 2
• Chromosome location: 2q33.1
• Summary: 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 A

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1056772	hsa-miR-1	CLIP-seq
MIRT1056773	hsa-miR-103a	CLIP-seq
MIRT1056774	hsa-miR-107	CLIP-seq
MIRT1056775	hsa-miR-1243	CLIP-seq
MIRT1056776	hsa-miR-1270	CLIP-seq
MIRT1056777	hsa-miR-206	CLIP-seq
MIRT1056778	hsa-miR-3074-3p	CLIP-seq
MIRT1056779	hsa-miR-3163	CLIP-seq
MIRT1056780	hsa-miR-340	CLIP-seq
MIRT1056781	hsa-miR-3673	CLIP-seq
MIRT1056782	hsa-miR-3688-3p	CLIP-seq
MIRT1056783	hsa-miR-3942-3p	CLIP-seq
MIRT1056784	hsa-miR-4261	CLIP-seq
MIRT1056785	hsa-miR-4276	CLIP-seq
MIRT1056786	hsa-miR-4311	CLIP-seq
MIRT1056787	hsa-miR-4496	CLIP-seq
MIRT1056788	hsa-miR-4531	CLIP-seq
MIRT1056789	hsa-miR-4666-5p	CLIP-seq
MIRT1056790	hsa-miR-4699-3p	CLIP-seq
MIRT1056791	hsa-miR-4764-5p	CLIP-seq
MIRT1056792	hsa-miR-4795-3p	CLIP-seq
MIRT1056793	hsa-miR-539	CLIP-seq
MIRT1056794	hsa-miR-613	CLIP-seq
MIRT1056795	hsa-miR-616	CLIP-seq
MIRT1056796	hsa-miR-620	CLIP-seq
MIRT1056797	hsa-miR-624	CLIP-seq
MIRT1056798	hsa-miR-944	CLIP-seq
MIRT1056772	hsa-miR-1	CLIP-seq
MIRT1056773	hsa-miR-103a	CLIP-seq
MIRT1056774	hsa-miR-107	CLIP-seq
MIRT1056777	hsa-miR-206	CLIP-seq
MIRT1056781	hsa-miR-3673	CLIP-seq
MIRT1056783	hsa-miR-3942-3p	CLIP-seq
MIRT1056785	hsa-miR-4276	CLIP-seq
MIRT1056789	hsa-miR-4666-5p	CLIP-seq
MIRT1056790	hsa-miR-4699-3p	CLIP-seq
MIRT1056794	hsa-miR-613	CLIP-seq
MIRT1056798	hsa-miR-944	CLIP-seq
MIRT1056772	hsa-miR-1	CLIP-seq
MIRT1056773	hsa-miR-103a	CLIP-seq
MIRT1056774	hsa-miR-107	CLIP-seq
MIRT1056777	hsa-miR-206	CLIP-seq
MIRT1056781	hsa-miR-3673	CLIP-seq
MIRT1056783	hsa-miR-3942-3p	CLIP-seq
MIRT1056785	hsa-miR-4276	CLIP-seq
MIRT1056789	hsa-miR-4666-5p	CLIP-seq
MIRT1056790	hsa-miR-4699-3p	CLIP-seq
MIRT1056794	hsa-miR-613	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	9989505, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10205158
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	7698325
GO:0006986	Process	Response to unfolded protein	TAS	7698325
GO:0016020	Component	Membrane	HDA	16210410
GO:0044183	Function	Protein folding chaperone	IEA
GO:0046872	Function	Metal ion binding	IBA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	NAS	7916212, 12483302
GO:0051087	Function	Protein-folding chaperone binding	IBA
GO:0051087	Function	Protein-folding chaperone binding	IPI	10205158
GO:0051087	Function	Protein-folding chaperone binding	TAS	7698325
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097193	Process	Intrinsic apoptotic signaling pathway	NAS	10205158

Other IDs

• MIM: 600141
• HGNC: 5269
• e!Ensembl: ENSG00000115541

Protein

• UniProt ID: P61604
• Protein name: 10 kDa heat shock protein, mitochondrial (Hsp10) (10 kDa chaperonin) (Chaperonin 10) (CPN10) (Early-pregnancy factor) (EPF) (Heat shock protein family E member 1)
• Protein 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 unfolde
• PDB: 4PJ1, 6HT7, 6MRC, 6MRD, 8G7N, 8G7O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00166	Cpn10	8 → 100	Chaperonin 10 Kd subunit	Domain

• Sequence:

  MAGQAFRKFLPLFDRVLVERSAAETVTKGGIMLPEKSQGKVLQATVVAVGSGSKGKGGEI
  QPVSVKVGDKVLLPEYGGTKVVLDDKDYFLFRDGDILGKYVD

• Sequence length: 102

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	19520060		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25075042		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	25075042		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26687188	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29922073		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17457039	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	29028811, 31564980		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	29028811	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	26429916	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19913561, 7538307		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29979378		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30112103		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	9334363		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25454514		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12860287	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17048249, 27491302, 32927708	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17457039	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17048249	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30112103		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504108	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17048249	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17419711		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	12967636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	12967636		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37511188	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22297444	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16502466		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17457039, 33971488	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17052347	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15893396		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18229457	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19520060		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15816004		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	12738647	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	27993580		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	15056384		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	9746595	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21987536		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	21987536		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16253146	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25454514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17419711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28339435		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30112103		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19913561		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25390895	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	12967636		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31564980		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23589362		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	21987536		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25390895		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25390895	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17419711		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17419711, 18500265	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28339435		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35258800	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17048249	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25355063	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28662100		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	25390895	Inhibit	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	11898127		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31564980		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16769709	Associate	★☆☆☆☆ Found in Text Mining only