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Protein

Protein BEAN1

Gene

BEAN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein BEAN1
Alternative name(s):
Brain-expressed protein associating with Nedd4 homolog
Short name:
BEAN
Gene namesi
Name:BEAN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000166546.13
HGNCiHGNC:24160 BEAN1
MIMi612051 gene
neXtProtiNX_Q3B7T3

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei36 – 56HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 31 (SCA31)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:117210

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi146227
MalaCardsiBEAN1
MIMi117210 phenotype
OpenTargetsiENSG00000166546
Orphaneti217012 Spinocerebellar ataxia type 31

Polymorphism and mutation databases

BioMutaiBEAN1
DMDMi190360694

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003225401 – 259Protein BEAN1Add BLAST259

Proteomic databases

PaxDbiQ3B7T3
PeptideAtlasiQ3B7T3
PRIDEiQ3B7T3
ProteomicsDBi61662
61663 [Q3B7T3-2]

PTM databases

iPTMnetiQ3B7T3
PhosphoSitePlusiQ3B7T3

Expressioni

Gene expression databases

BgeeiENSG00000166546
ExpressionAtlasiQ3B7T3 baseline and differential
GenevisibleiQ3B7T3 HS

Organism-specific databases

HPAiHPA053851

Interactioni

Subunit structurei

Interacts with NEDD4.By similarity

Protein-protein interaction databases

BioGridi126974, 2 interactors
IntActiQ3B7T3, 1 interactor
STRINGi9606.ENSP00000442793

Structurei

3D structure databases

ProteinModelPortaliQ3B7T3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi60 – 111Arg-richAdd BLAST52
Compositional biasi70 – 101His-richAdd BLAST32

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWAK Eukaryota
ENOG4111GT8 LUCA
GeneTreeiENSGT00390000003283
HOVERGENiHBG107498
InParanoidiQ3B7T3
KOiK19324
OMAiEYEHGYV
OrthoDBiEOG091G0GE4
PhylomeDBiQ3B7T3
TreeFamiTF335893

Family and domain databases

InterProiView protein in InterPro
IPR039352 BEAN1
PANTHERiPTHR36464 PTHR36464, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3B7T3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSFKRPCPLA RYNRTSYFYP TFSESSEHSH LLVSPVLVAS AVIGVVIILS
60 70 80 90 100
CITIIVGSIR RDRQARLQRH RHRHHRHHHH HHHHRRRRHR EYEHGYVSDE
110 120 130 140 150
HTYSRSSRRM RYACSSSEDW PPPLDISSDG DVDATVLREL YPDSPPGYEE
160 170 180 190 200
CVGPGATQLY VPTDAPPPYS LTDSCPTLDG TSDSGSGHSP GRHQQEQRTP
210 220 230 240 250
AQGGLHTVSM DTLPPYEAVC GAGPPSGLLP LPGPDPGPRG SQGSPTPTRA

PASGPERIV
Length:259
Mass (Da):28,626
Last modified:February 26, 2008 - v2
Checksum:i3AAB5481335F5DBC
GO
Isoform 2 (identifier: Q3B7T3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.

Show »
Length:150
Mass (Da):15,463
Checksum:i0020F3A579A4BFAA
GO
Isoform 3 (identifier: Q3B7T3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.
     148-259: YEECVGPGAT...APASGPERIV → VSLSRLRWSA...NSLPSGSPVL

Note: No experimental confirmation available.
Show »
Length:208
Mass (Da):22,345
Checksum:i0D2BB2C5BCF061EC
GO

Sequence cautioni

The sequence AAI07478 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EG328447 differs from that shown. Reason: Frameshift at position 79.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0319111 – 109Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST109
Alternative sequenceiVSP_046914148 – 259YEECV…PERIV → VSLSRLRWSAMMYTGSFTYW VRSMLSRHKLDAILGRLGYT ATLESEFSLVQAISKENVKQ MVFKIFLVRVSCEAVLRTAG TRMLEPGTEKLARTHSRHSS EKRLVKPCSCLEGVQPGPGS GGPQQGPSEGVGSETALAEG TAGQRSLPMALSPSEVSTAP NSLPSGSPVL in isoform 3. 1 PublicationAdd BLAST112

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056142 mRNA Translation: BAG51632.1
AC010542 Genomic DNA No translation available.
AC132186 Genomic DNA No translation available.
CH471092 Genomic DNA Translation: EAW83011.1
BC107477 mRNA Translation: AAI07478.1 Different initiation.
EG328447 mRNA No translation available.
AB472396 mRNA No translation available.
CCDSiCCDS54015.1 [Q3B7T3-1]
CCDS58469.1 [Q3B7T3-2]
CCDS58470.1 [Q3B7T3-3]
RefSeqiNP_001129578.1, NM_001136106.4 [Q3B7T3-2]
NP_001171491.1, NM_001178020.2 [Q3B7T3-1]
NP_001184154.1, NM_001197225.3 [Q3B7T3-3]
XP_011521185.1, XM_011522883.1 [Q3B7T3-1]
XP_011521186.1, XM_011522884.1 [Q3B7T3-1]
XP_011521190.1, XM_011522888.1 [Q3B7T3-2]
XP_011521191.1, XM_011522889.1 [Q3B7T3-2]
XP_011521192.1, XM_011522890.1 [Q3B7T3-2]
XP_011521193.1, XM_011522891.1 [Q3B7T3-2]
XP_011521194.1, XM_011522892.2 [Q3B7T3-2]
UniGeneiHs.740218
Hs.740219
Hs.97805

Genome annotation databases

EnsembliENST00000299694; ENSP00000299694; ENSG00000166546 [Q3B7T3-2]
ENST00000536005; ENSP00000442793; ENSG00000166546 [Q3B7T3-1]
ENST00000561796; ENSP00000455212; ENSG00000166546 [Q3B7T3-3]
ENST00000562849; ENSP00000456822; ENSG00000166546 [Q3B7T3-2]
ENST00000622872; ENSP00000483700; ENSG00000166546 [Q3B7T3-3]
GeneIDi146227
KEGGihsa:146227
UCSCiuc002eoq.4 human [Q3B7T3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBEAN1_HUMAN
AccessioniPrimary (citable) accession number: Q3B7T3
Secondary accession number(s): B3KPC0, H3BP97
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: July 18, 2018
This is version 87 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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