|
Gene id |
3303 |
| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HSPA1A Gene UCSC Ensembl |
|
Aliases |
HEL-S-103, HSP70-1, HSP70-1A, HSP70-2, HSP70.1, HSP70.2, HSP70I, HSP72, HSPA1 |
|
Gene name |
heat shock protein family A (Hsp70) member 1A |
|
Alternate names |
heat shock 70 kDa protein 1A, HSP70-1/HSP70-2, HSP70.1/HSP70.2, Heat shock 70 kDa protein 1B, Heat shock 70 kDa protein 2, dnaK-type molecular chaperone HSP70-1, epididymis secretory protein Li 103, epididymis secretory sperm binding protein, heat shock 70 kDa p, |
|
Gene location |
6p21.33 (31815542: 31817941) Exons: 1 NC_000006.12
|
|
Gene summary(Entrez) |
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly tr
|
|
OMIM |
140550 |
SNPs |
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
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|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
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| Associated diseases |
References |
| Cancer | GAD: 20012387 |
| Cancer (gastric) | GAD: 19626584 |
| Cancer (leukemia) | GAD: 20012387 |
| Cancer (lung) | GAD: 20704535 |
| Cardiovascular disease | GAD: 19333379 |
| Restenosis | GAD: 12082592 |
| Sarcoidosis | GAD: 17591867 |
| Ankylosing spondylitis | GAD: 15079808 |
| Asthma | GAD: 15292002 |
| Rheumatoid arthritis | GAD: 12687213 |
| Multiple sclerosis | GAD: 11696222 |
| Systemic lupus erythematosus (SLE) | GAD: 19851445 |
| Insulin resistance | GAD: 18332089 |
| Diabetes | GAD: 18518860 |
| Spondylarthropathies | GAD: 11779758 |
| Stroke | GAD: 12008944 |
| Alzheimer's disease | GAD: 19141999 |
| Parkinson disease | GAD: 14605873 |
| Meniere disease | GAD: 19241595 |
| Schizophrenia | GAD: 15963589 |
| Abortion | GAD: 20587610 |
| Preeclampsia | GAD: 16202503 |
| Cryptorchidism | MIK: 14981147 |
| Male factor infertility | MIK: 14981147 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 15165109 |
| Pulmonary edema | GAD: 19351530 |
| Connective tissue diseases | GAD: 19527514 |
| Alzheimer's disease | PMID:15832029 |
| urinary bladder cancer | PMID:19914824 |
| Visual epilepsy | PMID:22509781 |
| paranoid schizophrenia | PMID:23893339 |
| Vitiligo | PMID:23447019 |
| cardiovascular system disease | PMID:23321917 |
| Kawasaki disease | PMID:23870089 |
| Major depressive disorder | PMID:17428599 |
| Cystic fibrosis | PMID:21993476 |
| Status epilepticus | PMID:22509781 |
| Atherosclerosis | PMID:22328194 |
| Atherosclerosis | PMID:20490736 |
| Atherosclerosis | PMID:22328194 |
| Schizophrenia | PMID:18299791 |
| Vascular dementia | PMID:15832029 |
| Systemic lupus erythematosus | PMID:20498198 |
| Systolic heart failure | PMID:23564583 |
| Meniere's disease | PMID:19241595 |
| Associated with failed meiosis, germ cell apoptosis | MIK: 8622925 |
| Male infertility | MIK: 8622925 |
| Cryptorchidism | MIK: 14981147 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 14981147 |
Cryptorchi
dism
|
|
|
|
Male infertility |
|
Show abstract |
| 8622925 |
Associated
with fail
ed meiosis
, germ cel
l apoptosi
s, and mal
e infertil
ity
|
|
|
|
Male infertility |
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|