• Gene id: 146227

Gene Summary

• Gene Symbol: BEAN1   Gene   UCSC   Ensembl
• Aliases: BEAN, SCA31
• Gene name: brain expressed associated with NEDD4 1
• Alternate names: protein BEAN1, brain-expressed protein associating with Nedd4 homolog,
• Gene location: 16q21 (66427294: 66495287)     Exons: 13     NC_000016.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q3B7T3  
  • Name: Protein BEAN1 (Brain expressed protein associating with Nedd4 homolog) (BEAN)
  • Length: 259  
  • Mass: 28626
• Sequence:

  MSFKRPCPLARYNRTSYFYPTFSESSEHSHLLVSPVLVASAVIGVVIILSCITIIVGSIRRDRQARLQRHRHRHH
  RHHHHHHHHRRRRHREYEHGYVSDEHTYSRSSRRMRYACSSSEDWPPPLDISSDGDVDATVLRELYPDSPPGYEE
  CVGPGATQLYVPTDAPPPYSLTDSCPTLDGTSDSGSGHSPGRHQQEQRTPAQGGLHTVSMDTLPPYEAVCGAGPP
  SGLLPLPGPDPGPRGSQGSPTPTRAPASGPERIV

• Structural information:
  • Interpro: IPR039352  
  • STRING: ENSP00000442793
• Other Databases: GeneCards:  BEAN1  Malacards:  BEAN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq