InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRKAR1A

Summary

InnateDB Protein

IDBP-245106.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRKAR1A

Protein Name

protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)

Synonyms

ACRDYS1; ADOHR; CAR; CNC; CNC1; PKR1; PPNAD1; PRKAR1; TSE1;

Species

Homo sapiens

Ensembl Protein

ENSP00000376474

InnateDB Gene

IDBG-65907 (PRKAR1A)

Protein Structure

UniProt Annotation

Function

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. {ECO:0000269PubMed:16491121, ECO:0000269PubMed:20215566}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:23115245}.

Disease Associations

Carney complex 1 (CNC1) [MIM:160980]: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. {ECO:0000269PubMed:15371594, ECO:0000269PubMed:18241045, ECO:0000269PubMed:22785148, ECO:0000269PubMed:23323113}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary pigmented nodular adrenocortical disease 1 (PPNAD1) [MIM:610489]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. {ECO:0000269PubMed:12213893}. Note=The disease is caused by mutations affecting the gene represented in this entry.Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. {ECO:0000269PubMed:21651393, ECO:0000269PubMed:22464250, ECO:0000269PubMed:22464252, ECO:0000269PubMed:22723333, ECO:0000269PubMed:23043190, ECO:0000269PubMed:23425300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Four types of regulatory chains are found: I- alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 92 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.