LP417416-7
PRKAR1A gene
Active
Description
The PRKAR1A gene (protein kinase cAMP-dependent type I regulatory subunit alpha) [HGNC Gene ID:9388] is located on chromosome 17q24.2. 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 holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013] [NCBI Gene ID:5573] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PRKAR1A gene
- Part Display Name
- PRKAR1A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-01-13
- Construct for LOINC Short Name
- PRKAR1A
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | PRKAR1A-gen |
| zh-CN | Chinese (China) | PRKAR1A 基因 Synonyms: 蛋白激酶CAMP依赖性I型调节亚基α基因; |
| fr-FR | French (France) | PRKAR1A gène |
| it-IT | Italian (Italy) | PRKAR1A, gene |
| es-ES | Spanish (Spain) | Gen PRKAR1A |
| pl-PL | Polish (Poland) | PRKAR1A gen Synonyms: Gen PRKAR1A |
| el-GR | Greek (Greece) | Γονίδιο PRKAR1A Synonyms: Γονίδιο PRKAR1A |
LOINC Copyright
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