BEAN1

Protein identityUniProt · HPA

UniProt accession

Q3B7T3

Gene

BEAN1

Ensembl

ENSG00000166546

Chromosome

16

Canonical length

259 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Centrosome

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

259 residues, UniProt reviewed canonical sequence.

>Q3B7T3|BEAN1
     1  MSFKRPCPLA RYNRTSYFYP TFSESSEHSH LLVSPVLVAS AVIGVVIILS CITIIVGSIR
    61  RDRQARLQRH RHRHHRHHHH HHHHRRRRHR EYEHGYVSDE HTYSRSSRRM RYACSSSEDW
   121  PPPLDISSDG DVDATVLREL YPDSPPGYEE CVGPGATQLY VPTDAPPPYS LTDSCPTLDG
   181  TSDSGSGHSP GRHQQEQRTP AQGGLHTVSM DTLPPYEAVC GAGPPSGLLP LPGPDPGPRG
   241  SQGSPTPTRA PASGPERIV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BEAN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.64

Highest tissue expression

3.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BEAN1.

Disease | AllUniProt

Conditions BEAN1 is implicated in, by any mechanism.

• Spinocerebellar ataxia 31 (SCA31) MIM:117210

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.68

gnomAD pLI

0

gnomAD missense Z

1.1

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• membrane

Protein domainsUniProt · Pfam · InterPro

• Protein BEAN1

KeywordsUniProt

• Membrane
• Neurodegeneration
• Spinocerebellar ataxia
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of BEAN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NEDD4