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Gene id |
5562 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
PRKAA1 Gene UCSC Ensembl |
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Aliases |
AMPK, AMPKa1 |
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Gene name |
protein kinase AMP-activated catalytic subunit alpha 1 |
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Alternate names |
5'-AMP-activated protein kinase catalytic subunit alpha-1, 5'-AMP-activated protein kinase, catalytic alpha-1 chain, ACACA kinase, AMP -activate kinase alpha 1 subunit, AMP-activated protein kinase, catalytic, alpha-1, AMPK alpha 1, AMPK subunit alpha-1, HMGCR k, |
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Gene location |
5p13.1 (40798194: 40759378) Exons: 12 NC_000008.11
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Gene summary(Entrez) |
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK
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OMIM |
602739 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Cancer (stomach) | GAD: 22037551 |
| Colon cancer | GAD: 20622004 |
| Atherosclerosis | GAD: 19948975 |
| Hypercholesterolemia | GAD: 20602615 |
| Diabetes | GAD: 20682687 |
| Alzheimer's disease | GAD: 19141999 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 19574280 |
| Alters spermatozoa morphology | MIK: 22581459 |
| Asthenozoospermia | MIK: 22581459 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Asthenozoospermia | MIK: 22581459 |
| Alters sermatozoa morphology | MIK: 22581459 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 22581459 |
Asthenozoo
spermia, a
lters serm
atozoa mor
phology
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|
|
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Male infertility |
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Show abstract |
| 17327269 |
Teratozoos
permia
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13 (5 controls,
8 cases)
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Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
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|
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18
|
Male infertility |
GSE26881
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Show abstract |
| 31037746 |
Spermatoge
nic defect
s
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16 (1 control,
15 cases)
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Male infertility |
GSE6023 analyzed using GEO2R
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Show abstract |
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