cAMP-dependent protein kinase catalytic subunit gamma (PRKACG)
The protein contains 351 amino acids for an estimated molecular weight of 40434 Da.
Phosphorylates a large number of substrates in the cytoplasm and the nucleus. (updated: Jan. 23, 2007)
Protein identification was indicated in the following studies:
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| BDPLT19 | |
| dbSNP:rs56287972 | |
| dbSNP:rs3730386 |
Biological Process
Activation of protein kinase A activity
Adaptive immune response
Blood coagulation
Cellular response to glucagon stimulus
Chemical synaptic transmission
High-density lipoprotein particle assembly
Male gonad development
Negative regulation of inflammatory response to antigenic stimulus
Peptidyl-serine phosphorylation
Protein kinase A signaling
Renal water homeostasis
Signal transduction
Spermatogenesis
Stimulatory C-type lectin receptor signaling pathway
The reference OMIM entry for this protein is 176893
Protein kinase, camp-dependent, catalytic, gamma; prkacg
CLONING
Beebe et al. (1990) reported the molecular cloning of a third isoform of the catalytic subunit of cAMP-dependent protein kinase (C-alpha (PRKACA; 601639) and C-beta (PRKACB; 176892) had previously been characterized). The third form, isolated from a human testis cDNA library and designated C-gamma, was clearly derived from a gene distinct from C-alpha and C-beta and showed tissue-specific expression. Whereas at the amino acid level C-alpha and C-beta showed 93% homology, C-gamma showed only about 80% homology to both C-alpha and C-beta. Reinton et al. (1998) isolated the entire human PRKACG genomic sequence. The PRKACG gene is intronless, contains remnants of a poly(A) tail, is flanked by direct repeats, and is colinear with the PRKACA gene. Thus, the authors concluded that the PRKACG gene is a PRKACA-derived retroposon. Northern blot analysis detected PRKACG expression in fractionated germ cells of human testes.MAPPING
Foss et al. (1991, 1992) mapped the gene for the subunit C-gamma to chromosome 9 by study of somatic cell hybrids. By in situ hybridization, they confirmed the assignment and regionalized the gene to chromosome 9q13.GENE FUNCTION
Among 304 Swiss individuals tested and genotyped, de Quervain and Papassotiropoulos (2006) found a significant association (p = 0.00008) between short-term episodic memory performance and genetic variations in a 7-gene cluster consisting of the ADCY8 (103070), PRKACG, CAMK2G (602123), GRIN2A (138253), GRIN2B (138252), GRM3 (601115), and PRKCA (176960) genes, all of which have well-established molecular and biologic functions in animal memory. Functional MRI studies in an independent set of 32 individuals with similar memory performance showed a correlation between activation in memory-related brain regions, including the hippocampus and parahippocampal gyrus, and genetic variability in the 7-gene cluster. De Quervain and Papassotiropoulos (2006) concluded that these 7 genes encode proteins of the memory formation signaling cascade that are important for human memory function.MOLECULAR GENETICS
- Platelet-Type Bleeding Disorder 19 In 2 sibs, born of consanguineous parents of West Indian descent, with platelet-type bleeding disorder-19 (BDPLT19; 616176), Manchev et al. (2014) identified a homozygous missense mutation in the PRKACG gene (I74M; 176893.0001). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Studies of patient platelets suggested that the mutation caused a loss of function, resulting in defective platelet activation, impaired cytoskeleton reorganization, and defective megakaryocyte proplatelet formation. - Associations Pending Confirmation For discussion of a possible association between duplication of the PRKACG gene and 46,XY gonadal dysgenesis, see SRXY1 (400044). ... More on the omim web site
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).
Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 176893 was added.