NBEA

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]

Description

Neurobeachin

Tissue specificity

Group enriched (brain, retina)

Subcell location

Nucleoplasm, Nucleoli, Golgi apparatus, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

13 (34942270 - 35673022)

Ensembl ID

ENSG00000172915  (ver. 103.38)

Orthologs

Mouse Nbea: ENSMUSG00000027799

UniProt

Q8NFP9

neXtProt

NX_Q8NFP9

Human splice variants
Mouse splice variants

Protein structure