BEAN1
entrez
146227
canonical
uniprot
Q3B7T3
canonical
ensembl
ENSG00000166546
resolver
ensp
ENSP00000299694
resolver
ensp
ENSP00000442793
resolver
genesymbol
BEAN1
resolver
hgnc
HGNC:24160
resolver
uniprot
B3KPC0
resolver
uniprot
H3BP97
resolver
uniprot_entry
BEAN1_HUMAN
resolver
uniprot_sec
B3KPC0
resolver
uniprot_sec
H3BP97
resolver
amino_acid_sequence
MSFKRPCPLARYNRTSYFYPTFSESSEHSHLLVSPVLVASAVIGVVIILSCITIIVGSIRRDRQARLQRHRHRHHRHHHHHHHHRRRRHREYEHGYVSDEHTYSRSSRRMRYACSSSEDWPPPLDISSDGDVDATVLRELYPDSPPGYEECVGPGATQLYVPTDAPPPYSLTDSCPTLDGTSDSGSGHSPGRHQQEQRTPAQGGLHTVSMDTLPPYEAVCGAGPPSGLLPLPGPDPGPRGSQGSPTPTRAPASGPERIV
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:19878914}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
28626
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19878914
uniprot
proteins
sequence_length
259
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 36..56; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins