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Protein

Protein BEAN1

Gene

BEAN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

HGNCiHGNC:24160. BEAN1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei36 – 5621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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

MalaCardsiBEAN1.
MIMi117210. phenotype.
Orphaneti217012. Spinocerebellar ataxia type 31.

Polymorphism and mutation databases

BioMutaiBEAN1.
DMDMi190360694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 259259Protein BEAN1PRO_0000322540Add
BLAST

Proteomic databases

PaxDbiQ3B7T3.
PRIDEiQ3B7T3.

PTM databases

iPTMnetiQ3B7T3.

Expressioni

Gene expression databases

BgeeiQ3B7T3.
ExpressionAtlasiQ3B7T3. baseline and differential.
GenevisibleiQ3B7T3. HS.

Organism-specific databases

HPAiHPA053851.

Interactioni

Subunit structurei

Interacts with NEDD4.By similarity

Protein-protein interaction databases

BioGridi126974. 2 interactions.
IntActiQ3B7T3. 1 interaction.
STRINGi9606.ENSP00000442793.

Structurei

3D structure databases

ProteinModelPortaliQ3B7T3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi60 – 11152Arg-richAdd
BLAST
Compositional biasi70 – 10132His-richAdd
BLAST

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IWAK. Eukaryota.
ENOG4111GT8. LUCA.
GeneTreeiENSGT00390000003283.
HOVERGENiHBG107498.
InParanoidiQ3B7T3.
KOiK19324.
OMAiEYEHGYV.
OrthoDBiEOG70PBZJ.
PhylomeDBiQ3B7T3.
TreeFamiTF335893.

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 AAI07478.1 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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 109109Missing in isoform 2 and isoform 3. 3 PublicationsVSP_031911Add
BLAST
Alternative sequencei148 – 259112YEECV…PERIV → VSLSRLRWSAMMYTGSFTYW VRSMLSRHKLDAILGRLGYT ATLESEFSLVQAISKENVKQ MVFKIFLVRVSCEAVLRTAG TRMLEPGTEKLARTHSRHSS EKRLVKPCSCLEGVQPGPGS GGPQQGPSEGVGSETALAEG TAGQRSLPMALSPSEVSTAP NSLPSGSPVL in isoform 3. 1 PublicationVSP_046914Add
BLAST

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_001197225.2. [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_011522892.1. [Q3B7T3-2]
XP_011521195.1. XM_011522893.1. [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

Cross-referencesi

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_001197225.2. [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_011522892.1. [Q3B7T3-2]
XP_011521195.1. XM_011522893.1. [Q3B7T3-2]
UniGeneiHs.740218.
Hs.740219.
Hs.97805.

3D structure databases

ProteinModelPortaliQ3B7T3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126974. 2 interactions.
IntActiQ3B7T3. 1 interaction.
STRINGi9606.ENSP00000442793.

PTM databases

iPTMnetiQ3B7T3.

Polymorphism and mutation databases

BioMutaiBEAN1.
DMDMi190360694.

Proteomic databases

PaxDbiQ3B7T3.
PRIDEiQ3B7T3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi146227.
GeneCardsiBEAN1.
HGNCiHGNC:24160. BEAN1.
HPAiHPA053851.
MalaCardsiBEAN1.
MIMi117210. phenotype.
612051. gene.
neXtProtiNX_Q3B7T3.
Orphaneti217012. Spinocerebellar ataxia type 31.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWAK. Eukaryota.
ENOG4111GT8. LUCA.
GeneTreeiENSGT00390000003283.
HOVERGENiHBG107498.
InParanoidiQ3B7T3.
KOiK19324.
OMAiEYEHGYV.
OrthoDBiEOG70PBZJ.
PhylomeDBiQ3B7T3.
TreeFamiTF335893.

Miscellaneous databases

ChiTaRSiBEAN1. human.
GenomeRNAii146227.
PROiQ3B7T3.
SOURCEiSearch...

Gene expression databases

BgeeiQ3B7T3.
ExpressionAtlasiQ3B7T3. baseline and differential.
GenevisibleiQ3B7T3. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Teratocarcinoma.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  5. "Exhaustive RT-PCR and sequencing of all novel TWINSCAN predictions in human."
    Stevens M., Wei C., Gross S.S., McPherson J., Brent M.R.
    Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-95 (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-133 (ISOFORM 3), INVOLVEMENT IN SCA31.

Entry informationi

Entry nameiBEAN1_HUMAN
AccessioniPrimary (citable) accession number: Q3B7T3
Secondary accession number(s): B3KPC0, H3BP97
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 8, 2016
This is version 77 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.