Coiled-coil and C2 domain-containing protein 1A (CC2D1A)
The protein contains 951 amino acids for an estimated molecular weight of 104062 Da.
Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. (updated: March 4, 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.
- 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.
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| Variant | Description |
|---|---|
| dbSNP:rs11883041 | |
| dbSNP:rs2290663 | |
| dbSNP:rs2305777 |
No binding partner found
Biological Process
Negative regulation of snRNA transcription by RNA polymerase II
Negative regulation of transcription by RNA polymerase II
Positive regulation of I-kappaB kinase/NF-kappaB signaling
Regulation of transcription by RNA polymerase II
Signal transduction
Transcription, DNA-templated
Cellular Component
Cytoplasm
Cytosol
Extracellular exosome
Fibrillar center
Membrane
Microtubule organizing center
Nucleus
Plasma membrane
Molecular Function
Cadherin binding
DNA-binding transcription factor activity, RNA polymerase II-specific
DNA-binding transcription repressor activity, RNA polymerase II-specific
Obsolete signal transducer activity
Proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific
RNA polymerase II cis-regulatory region sequence-specific DNA binding
The reference OMIM entry for this protein is 608443
Mental retardation, autosomal recessive 3; mrt3
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-3 can be caused by homozygous mutation in the CC2D1A gene (610055).
CLINICAL FEATURES
Basel-Vanagaite et al. (2003) studied nonsyndromic mental retardation in 4 consanguineous families of Israeli-Arab origin with 10 affected and 24 unaffected members. All families originated from the same small village and had the same family name. Basel-Vanagaite et al. (2006) reported 5 additional families with nonsyndromic mental retardation from the same village with the same family name, for a total of 16 affected individuals. The initial clinical presentation in all affected family members was psychomotor developmental delay in early childhood. All had no or only single words and were severely mentally retarded; none had autistic features or seizures, and there were no dysmorphic features.MAPPING
In 4 consanguineous, interrelated Israeli-Arab families with nonsyndromic mental retardation from the same village, Basel-Vanagaite et al. (2003) established linkage with marker D19S840 at 19p13.2-p13.12 (maximum lod = 7.06 at theta = 0.00). All affected individuals were found to be homozygous for a common haplotype within a 2.4-Mb critical region between the markers D19S547 proximally and D19S1165 distally. In 4 consanguineous Israeli-Arab families originally reported by Basel-Vanagaite et al. (2003) and 5 additional families with nonsyndromic mental retardation from the same village and with the same family name, Basel-Vanagaite et al. (2006) identified a common homozygous disease-bearing haplotype for the polymorphic markers RFX1 and D19S840 that defined a critical 0.9-Mb region between D19S564 and D19S547 on chromosome 19p13.12. Basel-Vanagaite et al. (2006) suggested that the disease was caused by a single mutation derived from a single ancestral founder in all the families.MOLECULAR GENETICS
In 9 consanguineous Israeli-Arab families with nonsyndromic mental retardation from the same village and with the same family name, Basel-Vanagaite et al. (2006) analyzed 14 candidate genes located in a haplotype-defined critical region on chromosome 19p13.12. Homozygosity for a protein-truncating mutation in the CC2D1A gene (610055.0001) was identified in all affected family members; parents were heterozygous for the mutation. ... 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 608443 was added.