|
Gene id |
5573 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PRKAR1A Gene UCSC Ensembl |
|
Aliases |
ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1 |
|
Gene name |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
Alternate names |
cAMP-dependent protein kinase type I-alpha regulatory subunit, Carney complex type 1, cAMP-dependent protein kinase regulatory subunit RIalpha, cAMP-dependent protein kinase type I-alpha regulatory chain, epididymis secretory sperm binding protein, protein kin, |
|
Gene location |
17q24.2 (68413622: 68551315) Exons: 16 NC_000012.12
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|
Gene summary(Entrez) |
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holo
|
|
OMIM |
188830 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
|
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| Pathway id | Pathway name |
| hsa04910 | Insulin signaling pathway | | hsa04910 | Insulin signaling pathway | |
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| Associated diseases |
References |
| Adenoma | GAD: 19429701 |
| Cancer (thyroid) | GAD: 19730683 |
| Pituitary adenomas | KEGG: H01102 |
| Carney complex | KEGG: H01820 |
| Multiple endocrine neoplasia | GAD: 20507346 |
| Cushing's syndrome | KEGG: H01431 |
| Adrenal cortex diseases | GAD: 19293268 |
| Fertilizing defects | MIK: 16728532 |
| Acrodysostosis | KEGG: H02211 |
| Pigmented micronodular adrenocortical disease | KEGG: H00260 |
| Fertility defects | MIK: 16728532 |
| Hypospermatogenesis | MIK: 28361989 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16728532 |
Fertility defects
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|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos permia
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|
|
19 (6 controls , 13 cases)
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Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28361989 |
Hyposperma togenesis
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|
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6 (3 controls, 3 Klienfelter s yndrome
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Male infertility |
Microarray
|
Show abstract |
| 31037746 |
Spermatoge nic defect s
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|
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28 men with az oospermia
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Male infertility |
Microarray
|
Show abstract |
|