BEAN1

The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Description

Brain expressed associated with NEDD4 1

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Centrosome

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

16 (66427295 - 66493529)

Ensembl ID

ENSG00000166546  (ver. 103.38)

Orthologs

Mouse Bean1: ENSMUSG00000031872

UniProt

Q3B7T3

neXtProt

NX_Q3B7T3

Human splice variants
Mouse splice variants

Protein structure