Neurobeachin (NBEA)
The protein contains 2946 amino acids for an estimated molecular weight of 327822 Da.
Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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:rs5011295 | |
| dbSNP:rs11538677 |
No binding partner found
The reference OMIM entry for this protein is 604889
Neurobeachin; nbea fragile site fra13a, included
CLONING
The targeting of protein kinase A (PKA) actions to specific subcellular sites is mediated in part by A-kinase anchor proteins (AKAPs; see 602449), a large and diverse group of proteins that includes neurobeachin. AKAPs reside at distinct subcellular locations and possess high-affinity binding sites for the type II regulatory subunit isoforms of PKA. By immunoscreening a chicken brain cDNA expression library with antibody to synaptic plasma membranes, followed by probing of a mouse cDNA library, Wang et al. (2000) identified a predominantly brain-expressed cDNA encoding Nbea. Sequence analysis predicted that the 2,936-amino acid cytosolic protein contains a series of C-terminal WD40 repeats preceded by an approximately 280-amino acid BEACH (for beige and Chediak-Higashi) domain, originally identified by Nagle et al. (1996) in LYST (606897), the protein mutated in the Chediak-Higashi syndrome. BEACH is a conserved sequence, larger than a protein-protein interaction site, that is also found in human FAN (NSMAF; 603043) and the partial sequence known as BGL or CDC4L. Binding analysis showed that region B of Nbea binds with high affinity and specificity to the type II regulatory subunits, preferentially RII-alpha, of PKA. Helical wheel analysis revealed the potential for an amphiphilic alpha helix and the formation of a core binding site. Northern blot analysis of chicken tissue and Western blot analysis of mouse tissue indicated that Nbea expression is selective for brain. Immunocytochemical analysis demonstrated association with pleomorphic tubulovesicular endomembranes near the trans sides of Golgi stacks and in a subpopulation of synapses. Immunofluorescence microscopy revealed that Nbea association with Golgi-near membranes is stimulated by GTP-gamma-S and dispersed by brefeldin A.MAPPING
Gilbert et al. (1999) noted that a UniGene cluster corresponding to the human NBEA gene has been mapped to 13q13. By somatic cell hybrid analysis and radiation hybrid mapping using a human genomic sequence (GenBank GENBANK AQ155855) that encodes a predicted protein sharing 100% amino acid sequence identity with region B of mouse Nbea, they confirmed the localization of the human NBEA gene to 13q13. Gilbert et al. (1999) mapped the mouse Nbea gene to the central region of chromosome 3.CYTOGENETICS
The incidence of de novo chromosomal aberrations may be increased in groups of persons with autism, suggesting a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. Castermans et al. (2003) reported that the NBEA gene was disrupted in a patient with a de novo translocation, t(5;13)(q12.1;q13.2), idiopathic autism, and no family history of autism. There was no associated mental retardation or physical anomalies. The findings in this patient, together with the predominant expression of Nbea in mouse brain and during development and the chromosomal localization of the human NBEA gene in a location of chromosome 13 previously implicated in autism (Collaborative Linkage Study of Autism, 2001), supported a role of the NBEA gene in autism. Common fragile sites are normal constituents of chromosomal structure prone to chromosomal breakage. Savelyeva et al. (2006) stated that in humans, the cytogenetic locations of more than 80 common fragile sites were known, and that the DNA at 11 of them had been defined and characterized at the molecular level. Savelyeva et al. (200 ... More on the omim web site
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 604889 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).