cAMP-dependent protein kinase type I-alpha regulatory subunit (PRKAR1A)
The protein contains 381 amino acids for an estimated molecular weight of 42982 Da.
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- 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.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.
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Biological Process
Activation of phospholipase C activity
Activation of protein kinase A activity
Blood coagulation
Cardiac muscle cell proliferation
Cellular response to glucagon stimulus
CGMP-mediated signaling
Chemical synaptic transmission
Energy reserve metabolic process
Epidermal growth factor receptor signaling pathway
Female meiotic nuclear division
Fibroblast growth factor receptor signaling pathway
Innate immune response
Intracellular signal transduction
Mesoderm formation
Negative regulation of activated T cell proliferation
Negative regulation of cAMP-dependent protein kinase activity
Negative regulation of inflammatory response to antigenic stimulus
Negative regulation of meiotic nuclear division
Neurotrophin TRK receptor signaling pathway
Regulation of cAMP-mediated signaling
Regulation of insulin secretion
Regulation of protein kinase A signaling
Regulation of transcription by RNA polymerase II
Renal water homeostasis
Sarcomere organization
Signal transduction
Small molecule metabolic process
Transmembrane transport
Water transport
Cellular Component
CAMP-dependent protein kinase complex
Centrosome
Ciliary base
Cytoplasm
Cytosol
Glutamatergic synapse
Membrane
Multivesicular body
Neuromuscular junction
Nucleotide-activated protein kinase complex
Plasma membrane
Plasma membrane raft
Protein complex
Protein-containing complex
Sperm connecting piece
The reference OMIM entry for this protein is 101800
Acrodysostosis 1 with or without hormone resistance; acrdys1
Adohr
A number sign (#) is used with this entry because acrodysostosis-1 with or without hormone resistance (ACRDYS1) is caused by heterozygous mutation in the PRKAR1A gene (188830) on chromosome 17q24.
DESCRIPTION
Acrodysostosis-1 is 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 (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). - Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.CLINICAL FEATURES
Maroteaux and Malamut (1968) described acrodysostosis as a condition in small hands and feet were associated with which peculiar facies, including short nose, open mouth, and prognathism. Radiographs showed cone epiphyses. Mental deficiency was also frequent. Robinow et al. (1971) reported 9 cases and reviewed 11 from the literature. No cases were familial. Niikawa et al. (1978) described Japanese brother and sister, aged 7 months and 2 years, respectively, with severe nasal hypoplasia, peripheral dysostosis, blue eyes, and mental retardation. The mother showed nasal hypoplasia and irregular shortening of fingers and toes. Butler et al. (1988) reported an affected 13-year-old boy and reviewed the literature. They emphasized the features of nasal and maxillary hypoplasia, peripheral dysostosis, decreased interpedicular distance, advanced skeletal maturation, and mental retardation. They suggested that the metacarpophalangeal pattern profile was characteristically abnormal and useful as a diagnostic tool. The first ray in the foot may be relatively hyperplastic. Their review suggested increased parental age. Viljoen and Beighton (1991) reviewed the radiologic features in 12 affected children and found that epiphyseal stippling is a consistent and prominent characteristic during infancy. Steiner and Pagon (1992) described an affected mother and daughter. The mother had been diagnosed at the age of 4 years and was pictured in the 1982 edition of Smith's Recognizable Patterns of Human Malformation. At the age of 20, she suffered from recurrent carpal tunnel syndrome. The daughter showed cone-shaped epiphyses as in the mother. Linglart et al. (2011) reported 3 unrelated patients with short stature, peripheral dysostosis, nasal and maxillary hypoplasia, severe brachydactyly, epiphyseal stippling, and advanced bone age. Laboratory studies showed increased serum parathyroid hormone, low or normal calcium, and increased urinary cAMP excretion. All had evidence of multiple hormone resistance, including thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. Michot et al. (2012) reported 5 patients with ACRDYS1. All had short stature, severe brachydactyly, short metatarsals, metacarpals, and phalanges, and cone-shaped epiphyses in childhood. Only 2 had mild facial dysostosis and all had normal intellect. All had evidence of hormone resistance, with increased parathyroid hormone (PTH) and thyroid-stimulating hormone (TSH) and clinical hypothyroidism. Michot et al. (2012) also identified 4 patients with acrodysostosis-2 (614613) due to heterozygous mutations in the PDE4D gene (600129). Co ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 101800 was added.