BEAN1_HUMAN
ID BEAN1_HUMAN Reviewed; 259 AA.
AC Q3B7T3; B3KPC0; H3BP97;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Protein BEAN1;
DE AltName: Full=Brain-expressed protein associating with Nedd4 homolog;
DE Short=BEAN;
GN Name=BEAN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-95 (ISOFORM 1).
RA Stevens M., Wei C., Gross S.S., McPherson J., Brent M.R.;
RT "Exhaustive RT-PCR and sequencing of all novel TWINSCAN predictions in
RT human.";
RL Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-133 (ISOFORM 3), AND INVOLVEMENT IN SCA31.
RX PubMed=19878914; DOI=10.1016/j.ajhg.2009.09.019;
RA Sato N., Amino T., Kobayashi K., Asakawa S., Ishiguro T., Tsunemi T.,
RA Takahashi M., Matsuura T., Flanigan K.M., Iwasaki S., Ishino F., Saito Y.,
RA Murayama S., Yoshida M., Hashizume Y., Takahashi Y., Tsuji S., Shimizu N.,
RA Toda T., Ishikawa K., Mizusawa H.;
RT "Spinocerebellar ataxia type 31 is associated with 'inserted' penta-
RT nucleotide repeats containing (TGGAA)n.";
RL Am. J. Hum. Genet. 85:544-557(2009).
CC -!- SUBUNIT: Interacts with NEDD4. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q3B7T3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3B7T3-2; Sequence=VSP_031911;
CC Name=3;
CC IsoId=Q3B7T3-3; Sequence=VSP_031911, VSP_046914;
CC -!- DISEASE: Spinocerebellar ataxia 31 (SCA31) [MIM:117210]: A form of
CC spinocerebellar ataxia, a clinically and genetically heterogeneous
CC group of cerebellar disorders. Patients show progressive incoordination
CC of gait and often poor coordination of hands, speech and eye movements,
CC due to degeneration of the cerebellum with variable involvement of the
CC brainstem and spinal cord. SCA31 belongs to the autosomal dominant
CC cerebellar ataxias type III (ADCA III) which are characterized by pure
CC cerebellar ataxia without additional signs.
CC {ECO:0000269|PubMed:19878914}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI07478.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=EG328447; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK056142; BAG51632.1; -; mRNA.
DR EMBL; AC010542; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC132186; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471092; EAW83011.1; -; Genomic_DNA.
DR EMBL; BC107477; AAI07478.1; ALT_INIT; mRNA.
DR EMBL; EG328447; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AB472396; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS54015.1; -. [Q3B7T3-1]
DR CCDS; CCDS58469.1; -. [Q3B7T3-2]
DR RefSeq; NP_001129578.1; NM_001136106.4. [Q3B7T3-2]
DR RefSeq; NP_001171491.1; NM_001178020.2. [Q3B7T3-1]
DR RefSeq; NP_001184154.1; NM_001197225.3. [Q3B7T3-3]
DR RefSeq; XP_011521185.1; XM_011522883.1. [Q3B7T3-1]
DR RefSeq; XP_011521186.1; XM_011522884.1. [Q3B7T3-1]
DR RefSeq; XP_011521190.1; XM_011522888.1. [Q3B7T3-2]
DR RefSeq; XP_011521191.1; XM_011522889.1. [Q3B7T3-2]
DR RefSeq; XP_011521192.1; XM_011522890.1. [Q3B7T3-2]
DR RefSeq; XP_011521193.1; XM_011522891.1. [Q3B7T3-2]
DR RefSeq; XP_011521194.1; XM_011522892.2. [Q3B7T3-2]
DR AlphaFoldDB; Q3B7T3; -.
DR SMR; Q3B7T3; -.
DR BioGRID; 126974; 3.
DR IntAct; Q3B7T3; 3.
DR STRING; 9606.ENSP00000442793; -.
DR iPTMnet; Q3B7T3; -.
DR PhosphoSitePlus; Q3B7T3; -.
DR BioMuta; BEAN1; -.
DR DMDM; 190360694; -.
DR MassIVE; Q3B7T3; -.
DR PaxDb; Q3B7T3; -.
DR PeptideAtlas; Q3B7T3; -.
DR PRIDE; Q3B7T3; -.
DR ProteomicsDB; 61662; -. [Q3B7T3-1]
DR Antibodypedia; 65669; 88 antibodies from 16 providers.
DR DNASU; 146227; -.
DR Ensembl; ENST00000299694.12; ENSP00000299694.8; ENSG00000166546.14. [Q3B7T3-2]
DR Ensembl; ENST00000536005.7; ENSP00000442793.2; ENSG00000166546.14. [Q3B7T3-1]
DR Ensembl; ENST00000561796.5; ENSP00000455212.1; ENSG00000166546.14. [Q3B7T3-3]
DR Ensembl; ENST00000562849.6; ENSP00000456822.1; ENSG00000166546.14. [Q3B7T3-2]
DR Ensembl; ENST00000622872.4; ENSP00000483700.1; ENSG00000166546.14. [Q3B7T3-3]
DR GeneID; 146227; -.
DR KEGG; hsa:146227; -.
DR MANE-Select; ENST00000536005.7; ENSP00000442793.2; NM_001178020.3; NP_001171491.1.
DR UCSC; uc002eoq.4; human. [Q3B7T3-1]
DR CTD; 146227; -.
DR DisGeNET; 146227; -.
DR GeneCards; BEAN1; -.
DR HGNC; HGNC:24160; BEAN1.
DR HPA; ENSG00000166546; Tissue enhanced (brain).
DR MalaCards; BEAN1; -.
DR MIM; 117210; phenotype.
DR MIM; 612051; gene.
DR neXtProt; NX_Q3B7T3; -.
DR OpenTargets; ENSG00000166546; -.
DR Orphanet; 217012; Spinocerebellar ataxia type 31.
DR VEuPathDB; HostDB:ENSG00000166546; -.
DR eggNOG; ENOG502R1UF; Eukaryota.
DR GeneTree; ENSGT00390000003283; -.
DR HOGENOM; CLU_074372_0_0_1; -.
DR InParanoid; Q3B7T3; -.
DR OMA; RHRHREY; -.
DR OrthoDB; 1311491at2759; -.
DR PhylomeDB; Q3B7T3; -.
DR TreeFam; TF335893; -.
DR PathwayCommons; Q3B7T3; -.
DR SignaLink; Q3B7T3; -.
DR BioGRID-ORCS; 146227; 15 hits in 1054 CRISPR screens.
DR ChiTaRS; BEAN1; human.
DR GenomeRNAi; 146227; -.
DR Pharos; Q3B7T3; Tbio.
DR PRO; PR:Q3B7T3; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q3B7T3; protein.
DR Bgee; ENSG00000166546; Expressed in oocyte and 106 other tissues.
DR ExpressionAtlas; Q3B7T3; baseline and differential.
DR Genevisible; Q3B7T3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR039352; BEAN1.
DR PANTHER; PTHR36464; PTHR36464; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Neurodegeneration; Reference proteome;
KW Spinocerebellar ataxia; Transmembrane; Transmembrane helix.
FT CHAIN 1..259
FT /note="Protein BEAN1"
FT /id="PRO_0000322540"
FT TRANSMEM 36..56
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 71..91
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 152..259
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 174..206
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 227..241
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..109
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:19878914"
FT /id="VSP_031911"
FT VAR_SEQ 148..259
FT /note="YEECVGPGATQLYVPTDAPPPYSLTDSCPTLDGTSDSGSGHSPGRHQQEQRT
FT PAQGGLHTVSMDTLPPYEAVCGAGPPSGLLPLPGPDPGPRGSQGSPTPTRAPASGPERI
FT V -> VSLSRLRWSAMMYTGSFTYWVRSMLSRHKLDAILGRLGYTATLESEFSLVQAIS
FT KENVKQMVFKIFLVRVSCEAVLRTAGTRMLEPGTEKLARTHSRHSSEKRLVKPCSCLEG
FT VQPGPGSGGPQQGPSEGVGSETALAEGTAGQRSLPMALSPSEVSTAPNSLPSGSPVL
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:19878914"
FT /id="VSP_046914"
SQ SEQUENCE 259 AA; 28626 MW; 3AAB5481335F5DBC CRC64;
MSFKRPCPLA RYNRTSYFYP TFSESSEHSH LLVSPVLVAS AVIGVVIILS CITIIVGSIR
RDRQARLQRH RHRHHRHHHH HHHHRRRRHR EYEHGYVSDE HTYSRSSRRM RYACSSSEDW
PPPLDISSDG DVDATVLREL YPDSPPGYEE CVGPGATQLY VPTDAPPPYS LTDSCPTLDG
TSDSGSGHSP GRHQQEQRTP AQGGLHTVSM DTLPPYEAVC GAGPPSGLLP LPGPDPGPRG
SQGSPTPTRA PASGPERIV
