InnateDB Protein
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IDBP-751686.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BEAN1
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Protein Name
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000456822
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InnateDB Gene
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IDBG-34927 (BEAN1)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q3B7T3
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PhosphoSite |
PhosphoSite-Q3B7T3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
146227
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UniGene |
Hs.740219
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RefSeq |
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HUGO |
HGNC:24160
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OMIM |
612051
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CCDS |
CCDS58469
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HPRD |
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IMGT |
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EMBL |
AB472396
AC010542
AC132186
AK056142
BC107477
CH471092
EG328447
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GenPept |
AAI07478
BAG51632
EAW83011
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