| UniProt Protein Function: | neurobeachin: 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. Belongs to the WD repeat neurobeachin family. 2 isoforms of the human protein are produced by alternative splicing.Protein type: VesicleChromosomal Location of Human Ortholog: 13q13Cellular Component: cytosol; endomembrane system; plasma membrane; trans-Golgi networkMolecular Function: protein kinase bindingBiological Process: protein localization |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q8NFP9 |
| NCBI GenInfo Identifier: | 62422577 |
| NCBI Gene ID: | 26960 |
| NCBI Accession: | NP_056493.3 |
| UniProt Secondary Accession: | Q8NFP9,Q5T320, Q9HCM8, Q9NSU1, Q9NW98, Q9Y6J1, B7Z2H9 |
| UniProt Related Accession: | Q8NFP9 |
| Molecular Weight: | |
| NCBI Full Name: | neurobeachin isoform 1 |
| NCBI Synonym Full Names: | neurobeachin |
| NCBI Official Symbol: | NBEAÂ Â |
| NCBI Official Synonym Symbols: | BCL8B; LYST2Â Â |
| NCBI Protein Information: | neurobeachin |
| UniProt Protein Name: | Neurobeachin |
| UniProt Synonym Protein Names: | Lysosomal-trafficking regulator 2; Protein BCL8B |
| Protein Family: | Neurobeachin |
| UniProt Gene Name: | NBEAÂ Â |
| UniProt Entry Name: | NBEA_HUMAN |
