• Gene id: 3305

Gene Summary

• Gene Symbol: HSPA1L   Gene   UCSC   Ensembl
• Aliases: HSP70-1L, HSP70-HOM, HSP70T, hum70t
• Gene name: heat shock protein family A (Hsp70) member 1 like
• Alternate names: heat shock 70 kDa protein 1-like, heat shock 10kDa protein 1-like, heat shock 70 kDa protein 1-Hom, heat shock 70 kDa protein 1L, heat shock 70kD protein-like 1, heat shock 70kDa protein 1-like,
• Gene location: 6p21.33 (31815057: 31809618)     Exons: 2     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 140559

SNPs

rs2227956

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31810495G>A
NC_000006.12   g.31810495G>C
NC_000006.12   g.31810495G>T
NC_000006.11   g.31778272G>A
NC_000006.11   g.31778272G>C
NC_000006.11   g.31778272G>T
NG_011855.1   g.9564C>T
NG_011855.1   g.9564C>G
NG_011855.1   g.9564C>A
NM_005527.4   c.1478C>T
  

rs1061581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31816809G>A
NC_000006.11   g.31784586G>A
NG_011855.1   g.3250C>T
NT_113891.3   g.3294060G>A
NT_113891.2   g.3294166G>A
NT_167245.2   g.3064588G>A
NT_167245.1   g.3070173G>A
NT_167244.2   g.3149431G>A
NT_167244.1   g.3099347G>A
NT_167248.2   g.3072637G>A

Protein Summary

• Protein general information: P34931  
  • Name: Heat shock 70 kDa protein 1 like (Heat shock 70 kDa protein 1L) (Heat shock 70 kDa protein 1 Hom) (HSP70 Hom)
  • Length: 641  
  • Mass: 70,375
• Sequence:

  MATAKGIAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVAMNPQNTVFDAKRL
  IGRKFNDPVVQADMKLWPFQVINEGGKPKVLVSYKGENKAFYPEEISSMVLTKLKETAEAFLGHPVTNAVITVPA
  YFNDSQRQATKDAGVIAGLNVLRIINEPTAAAIAYGLDKGGQGERHVLIFDLGGGTFDVSILTIDDGIFEVKATA
  GDTHLGGEDFDNRLVSHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQANLEIDSLYEGIDFYTSIT
  RARFEELCADLFRGTLEPVEKALRDAKMDKAKIHDIVLVGGSTRIPKVQRLLQDYFNGRDLNKSINPDEAVAYGA
  AVQAAILMGDKSEKVQDLLLLDVAPLSLGLETAGGVMTALIKRNSTIPTKQTQIFTTYSDNQPGVLIQVYEGERA
  MTKDNNLLGRFDLTGIPPAPRGVPQIEVTFDIDANGILNVTATDKSTGKVNKITITNDKGRLSKEEIERMVLDAE
  KYKAEDEVQREKIAAKNALESYAFNMKSVVSDEGLKGKISESDKNKILDKCNELLSWLEVNQLAEKDEFDHKRKE
  LEQMCNPIITKLYQGGCTGPACGTGYVPGRPATGPTIEEVD

• Structural information:
  • Interpro: IPR018181  IPR029048  IPR029047  IPR013126  
  • Prosite: PS00297 PS00329 PS01036
  • PDB: 3GDQ
  • PDBsum: 3GDQ
  • STRING: ENSP00000364805
• Other Databases: GeneCards:  HSPA1L  Malacards:  HSPA1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002199	zona pellucida receptor complex	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042026	protein refolding	IDA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0072562	blood microparticle	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:0008180	COP9 signalosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0002199	zona pellucida receptor complex	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042026	protein refolding	IDA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0072562	blood microparticle	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:0008180	COP9 signalosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042026	protein refolding	IDA	biological process
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0072562	blood microparticle	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:0008180	COP9 signalosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04612	Antigen processing and presentation
hsa04915	Estrogen signaling pathway
hsa04213	Longevity regulating pathway - multiple species
hsa05134	Legionellosis
hsa05162	Measles
hsa05145	Toxoplasmosis

Diseases

Associated diseases	References
Cancer	GAD: 20012387
Cancer (gastric)	GAD: 19626584
Cancer (glaucoma)	GAD: 20069064
Cancer (leukemia)	GAD: 20012387
Cancer (lung)	GAD: 19789190
Cancer (prostate)	GAD: 17578680
Atrial fibrillation	GAD: 17934269
Hypertension	GAD: 19085089
Restenosis	GAD: 12082592
Sarcoidosis	GAD: 16611259
Arthritis	GAD: 19116923
Multiple sclerosis	GAD: 11696222
Systemic lupus erythematosus (SLE)	GAD: 19851445
Diabetes	GAD: 19143821
Bone diseases	GAD: 11040178
Bone diseases	GAD: 11040178
Osteoporosis	GAD: 18551993
Spondylarthropathies	GAD: 11779758
Stroke	GAD: 12008944
Parkinson disease	GAD: 14605873
Schizophrenia	GAD: 15963589
Chronic renal failure	GAD: 21085059
Abortion	GAD: 20587610
Hypothyroidism	GAD: 15236755
Preeclampsia	GAD: 16202503
Primary infertility	MIK: 26160076
Chronic obstructive pulmonary disease (COPD)	GAD: 15165109
Pulmonary edema	GAD: 19351530
Connective tissue diseases	GAD: 19527514
Male infertility	MIK: 26453269
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Primary infertility	MIK: 26160076
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26160076	Primary infertility	HSPA1B gene (NM_005346.4, GI: 3304):c.1059G>A, (PstI G>A; dbSNP: rs1061581G>A) and HSPA1L gene (NM_005527.3, GI: 3305) c.1478C>T (NcoIC>T, dbSNP: rs2227956)		140 (68 were infertile cases, 72 fertile controls)	Male infertility	HSPA1B HSPA1L
26453269	Male infertility				Male infertility	Methylation array
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray