HSPA1L (heat shock protein family A (Hsp70) member 1 like)

Gene

• Entrez ID: 3305
• Gene name: Heat shock protein family A (Hsp70) member 1 like
• Gene symbol: HSPA1L
• Synonyms (NCBI Gene): HSP70-1L, HSP70-HOM, HSP70T, hum70t
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016961	hsa-miR-335-5p	Microarray	18185580
MIRT016961	hsa-miR-335-5p	Microarray	18185580
MIRT028894	hsa-miR-26b-5p	Microarray	19088304
MIRT028894	hsa-miR-26b-5p	Microarray	19088304
MIRT041506	hsa-miR-193b-3p	CLASH	23622248
MIRT2012888	hsa-miR-1237	CLIP-seq
MIRT2012889	hsa-miR-1248	CLIP-seq
MIRT2012890	hsa-miR-128	CLIP-seq
MIRT2012891	hsa-miR-27a	CLIP-seq
MIRT2012892	hsa-miR-27b	CLIP-seq
MIRT2012893	hsa-miR-3919	CLIP-seq
MIRT2012894	hsa-miR-3925-3p	CLIP-seq
MIRT2012895	hsa-miR-3925-5p	CLIP-seq
MIRT2012896	hsa-miR-4643	CLIP-seq
MIRT2012897	hsa-miR-4756-3p	CLIP-seq
MIRT2012898	hsa-miR-513a-5p	CLIP-seq
MIRT2012899	hsa-miR-515-5p	CLIP-seq
MIRT2012900	hsa-miR-766	CLIP-seq
MIRT2012893	hsa-miR-3919	CLIP-seq
MIRT2012895	hsa-miR-3925-5p	CLIP-seq
MIRT2012896	hsa-miR-4643	CLIP-seq
MIRT2012897	hsa-miR-4756-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002199	Component	Zona pellucida receptor complex	IEA
GO:0005515	Function	Protein binding	IPI	25036637, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	21231916
GO:0005886	Component	Plasma membrane	IBA
GO:0006457	Process	Protein folding	IBA
GO:0006950	Process	Response to stress	IEA
GO:0006986	Process	Response to unfolded protein	TAS	9685725
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0031072	Function	Heat shock protein binding	IBA
GO:0031072	Function	Heat shock protein binding	IEA
GO:0031072	Function	Heat shock protein binding	IPI	17182002
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	24270810
GO:0042026	Process	Protein refolding	IBA
GO:0042026	Process	Protein refolding	IDA	21231916
GO:0042026	Process	Protein refolding	IEA
GO:0044183	Function	Protein folding chaperone	IBA
GO:0044297	Component	Cell body	IEA
GO:0051082	Function	Unfolded protein binding	IDA	21231916
GO:0051082	Function	Unfolded protein binding	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0140662	Function	ATP-dependent protein folding chaperone	IEA
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	IMP	24270810

Other IDs

• MIM: 140559
• HGNC: 5234
• e!Ensembl: ENSG00000204390

Protein

• UniProt ID: P34931
• Protein name: Heat shock 70 kDa protein 1-like (Heat shock 70 kDa protein 1L) (Heat shock 70 kDa protein 1-Hom) (HSP70-Hom) (Heat shock protein family A member 1L)
• Protein function: Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation
• PDB: 3GDQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00012	HSP70	8 → 614	Hsp70 protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in spermatids. {ECO:0000269|PubMed:9685725}.
• Sequence:

  MATAKGIAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQ
  VAMNPQNTVFDAKRLIGRKFNDPVVQADMKLWPFQVINEGGKPKVLVSYKGENKAFYPEE
  ISSMVLTKLKETAEAFLGHPVTNAVITVPAYFNDSQRQATKDAGVIAGLNVLRIINEPTA
  AAIAYGLDKGGQGERHVLIFDLGGGTFDVSILTIDDGIFEVKATAGDTHLGGEDFDNRLV
  SHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQANLEIDSLYEGIDFYTSIT
  RARFEELCADLFRGTLEPVEKALRDAKMDKAKIHDIVLVGGSTRIPKVQRLLQDYFNGRD
  LNKSINPDEAVAYGAAVQAAILMGDKSEKVQDLLLLDVAPLSLGLETAGGVMTALIKRNS
  TIPTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFDLTGIPPAPRGVPQIEVTF
  DIDANGILNVTATDKSTGKVNKITITNDKGRLSKEEIERMVLDAEKYKAEDEVQREKIAA
  KNALESYAFNMKSVVSDEGLKGKISESDKNKILDKCNELLSWLEVNQLAEKDEFDHKRKE
  LEQMCNPIITKLYQGGCTGPACGTGYVPGRPATGPTIEEVD

• Sequence length: 641

Pathways

KEGG:

Spliceosome
MAPK signaling pathway
Protein processing in endoplasmic reticulum
Endocytosis
Longevity regulating pathway - multiple species
Antigen processing and presentation
Estrogen signaling pathway
Prion disease
Legionellosis
Toxoplasmosis
Measles
Lipid and atherosclerosis

Reactome:

Regulation of HSF1-mediated heat shock response
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Attenuation phase
HSF1-dependent transactivation

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic obstructive pulmonary disease	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HSPA1L-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 1	Benign; association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	11779758, 9098422, 9583810		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anthracosis	BEFREE	21471543		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17934269		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	9098422		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28291257		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28291257	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9338474		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20704535		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23666708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	12008944		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20012387		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22542718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28759037		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30755640, 33600380	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23490384		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	27567034	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28246355	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	7901896		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	28246355	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	19085089	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39454876	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15818324, 25680846		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	LHGDN	17060867		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	19351530		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30217924		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26496868		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26496868	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28126021		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28126021	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28246355	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23490384		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	12544996		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20498198	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20498198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	9338474		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	9338474		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	9338474		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30946360	Associate	★☆☆☆☆ Found in Text Mining only
Major depression, single episode	Mental Depression	PSYGENET_DG	17428599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	17428599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	20704535		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17578680, 20096741		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17578680, 9338474		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11696222, 27609295		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	20598377		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17934269		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26198046	Associate	★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	23893339, 30342847		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14605873		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39454876	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	25687737		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical periodontitis	Pubtator	27567034	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17578680, 20096741		★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	16333988	Associate	★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CLINVAR_DG	28126021		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10958354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	16611259, 17591867, 9349405		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	17591867		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15963589, 18299791, 19439993, 30342847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15963589, 18299791, 19439993, 23893339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASDB_DG	20383147		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	24837172		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	17428599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34905506	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	17591867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations