Version 5.4
Homo sapiens Gene: NBEA
Summary
InnateDB Gene IDBG-23565.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NBEA
Gene Name neurobeachin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000172915
Encoded Proteins
IDBP-23567
neurobeachin
IDBP-23569
neurobeachin
IDBP-23571
neurobeachin
IDBP-228151
neurobeachin
IDBP-589460
neurobeachin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:34942287-35673022
Strand Forward strand
Band q13.3
Transcripts
ENST00000379939 ENSP00000369271
ENST00000310336 ENSP00000308534
ENST00000379922 ENSP00000369254
ENST00000400445 ENSP00000383295
ENST00000497540
ENST00000461581
ENST00000537702 ENSP00000440233
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
Biological Process
GO:0008104 protein localization
Cellular Component
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0012505 endomembrane system
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027799
View Gene Order
ENSBTAG00000022991
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.491172 Hs.595694 Hs.666416
RefSeq NM_001204197 NM_015678 XM_005266346 XM_005266351 XM_005266352 XM_006719805 XM_006719806
HUGO
OMIM
CCDS CCDS45026 CCDS55894
HPRD 05352
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca