Version 5.4
Homo sapiens Protein: BEAN1
Summary
InnateDB Protein IDBP-585926.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BEAN1
Protein Name brain expressed, associated with NEDD4, 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000442793
InnateDB Gene IDBG-34927 (BEAN1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
Disease Associations Spinocerebellar ataxia 31 (SCA31) [MIM:117210]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. {ECO:0000269PubMed:19878914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008219 cell death
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q3B7T3
PhosphoSite PhosphoSite-Q3B7T3
TrEMBL
UniProt Splice Variant
Entrez Gene 146227
UniGene Hs.740219
RefSeq NP_001171491
HUGO HGNC:24160
OMIM 612051
CCDS CCDS54015
HPRD
IMGT
EMBL AB472396 AC010542 AC132186 AK056142 BC107477 CH471092 EG328447
GenPept AAI07478 BAG51632 EAW83011

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca