TBL2_HUMAN
ID TBL2_HUMAN Reviewed; 447 AA.
AC Q9Y4P3; Q9UQE2;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Transducin beta-like protein 2;
DE AltName: Full=WS beta-transducin repeats protein;
DE Short=WS-betaTRP;
DE AltName: Full=Williams-Beuren syndrome chromosomal region 13 protein;
GN Name=TBL2; Synonyms=WBSCR13; ORFNames=UNQ563/PRO1125;
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 [GENOMIC DNA / MRNA].
RX PubMed=10575226; DOI=10.1159/000015319;
RA Perez Jurado L.A., Wang Y.-K., Francke U., Cruces J.;
RT "TBL2, a novel transducin family member in the WBS deletion:
RT characterization of the complete sequence, genomic structure,
RT transcriptional variants and the mouse ortholog.";
RL Cytogenet. Cell Genet. 86:277-284(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 14-447.
RX PubMed=9860302; DOI=10.1007/s004390050874;
RA Meng X., Lu X., Li Z., Green E.D., Massa H., Trask B.J., Morris C.A.,
RA Keating M.T.;
RT "Complete physical map of the common deletion region in Williams syndrome
RT and identification and characterization of three novel genes.";
RL Hum. Genet. 103:590-599(1998).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-433, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [9]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-168, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- DISEASE: Note=TBL2 is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region. Haploinsufficiency of TBL2 may
CC be the cause of certain cardiovascular and musculo-skeletal
CC abnormalities observed in the disease.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD28083.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF097484; AAF06823.1; -; mRNA.
DR EMBL; AF097485; AAF06824.1; -; Genomic_DNA.
DR EMBL; AL080162; CAB45751.1; -; mRNA.
DR EMBL; AY358518; AAQ88882.1; -; mRNA.
DR EMBL; AF056183; AAD28083.1; ALT_INIT; mRNA.
DR CCDS; CCDS5551.1; -.
DR PIR; T12544; T12544.
DR RefSeq; NP_036585.1; NM_012453.2.
DR AlphaFoldDB; Q9Y4P3; -.
DR SMR; Q9Y4P3; -.
DR BioGRID; 117762; 193.
DR IntAct; Q9Y4P3; 32.
DR MINT; Q9Y4P3; -.
DR STRING; 9606.ENSP00000307260; -.
DR GlyGen; Q9Y4P3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y4P3; -.
DR PhosphoSitePlus; Q9Y4P3; -.
DR SwissPalm; Q9Y4P3; -.
DR BioMuta; TBL2; -.
DR EPD; Q9Y4P3; -.
DR jPOST; Q9Y4P3; -.
DR MassIVE; Q9Y4P3; -.
DR MaxQB; Q9Y4P3; -.
DR PaxDb; Q9Y4P3; -.
DR PeptideAtlas; Q9Y4P3; -.
DR PRIDE; Q9Y4P3; -.
DR ProteomicsDB; 86235; -.
DR Antibodypedia; 2315; 193 antibodies from 27 providers.
DR DNASU; 26608; -.
DR Ensembl; ENST00000305632.11; ENSP00000307260.4; ENSG00000106638.18.
DR GeneID; 26608; -.
DR KEGG; hsa:26608; -.
DR MANE-Select; ENST00000305632.11; ENSP00000307260.4; NM_012453.4; NP_036585.1.
DR UCSC; uc003tyh.5; human.
DR CTD; 26608; -.
DR DisGeNET; 26608; -.
DR GeneCards; TBL2; -.
DR HGNC; HGNC:11586; TBL2.
DR HPA; ENSG00000106638; Tissue enhanced (testis).
DR MalaCards; TBL2; -.
DR MIM; 605842; gene.
DR neXtProt; NX_Q9Y4P3; -.
DR OpenTargets; ENSG00000106638; -.
DR Orphanet; 904; Williams syndrome.
DR PharmGKB; PA36350; -.
DR VEuPathDB; HostDB:ENSG00000106638; -.
DR eggNOG; KOG2096; Eukaryota.
DR GeneTree; ENSGT00390000013836; -.
DR InParanoid; Q9Y4P3; -.
DR OMA; WDINVRY; -.
DR OrthoDB; 778808at2759; -.
DR PhylomeDB; Q9Y4P3; -.
DR TreeFam; TF315054; -.
DR PathwayCommons; Q9Y4P3; -.
DR SignaLink; Q9Y4P3; -.
DR BioGRID-ORCS; 26608; 15 hits in 1078 CRISPR screens.
DR GenomeRNAi; 26608; -.
DR Pharos; Q9Y4P3; Tbio.
DR PRO; PR:Q9Y4P3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9Y4P3; protein.
DR Bgee; ENSG00000106638; Expressed in adult organism and 207 other tissues.
DR ExpressionAtlas; Q9Y4P3; baseline and differential.
DR Genevisible; Q9Y4P3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:ParkinsonsUK-UCL.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; NAS:ParkinsonsUK-UCL.
DR GO; GO:0051219; F:phosphoprotein binding; IDA:ParkinsonsUK-UCL.
DR GO; GO:0019901; F:protein kinase binding; IPI:ParkinsonsUK-UCL.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0031369; F:translation initiation factor binding; IPI:ParkinsonsUK-UCL.
DR GO; GO:0042149; P:cellular response to glucose starvation; IMP:ParkinsonsUK-UCL.
DR GO; GO:0071456; P:cellular response to hypoxia; IMP:ParkinsonsUK-UCL.
DR GO; GO:0030968; P:endoplasmic reticulum unfolded protein response; IMP:ParkinsonsUK-UCL.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR042410; WBSCR13.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR44321; PTHR44321; 1.
DR Pfam; PF00400; WD40; 2.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 5.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 3.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Isopeptide bond; Phosphoprotein; Reference proteome; Repeat;
KW Ubl conjugation; WD repeat; Williams-Beuren syndrome.
FT CHAIN 1..447
FT /note="Transducin beta-like protein 2"
FT /id="PRO_0000051270"
FT REPEAT 88..127
FT /note="WD 1"
FT REPEAT 134..174
FT /note="WD 2"
FT REPEAT 186..226
FT /note="WD 3"
FT REPEAT 228..267
FT /note="WD 4"
FT REPEAT 277..316
FT /note="WD 5"
FT REPEAT 329..367
FT /note="WD 6"
FT REPEAT 371..409
FT /note="WD 7"
FT REGION 38..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 433
FT /note="Phosphothreonine; by ATM or ATR"
FT /evidence="ECO:0007744|PubMed:17525332"
FT CROSSLNK 168
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 345
FT /note="V -> I (in dbSNP:rs35607697)"
FT /id="VAR_053420"
SQ SEQUENCE 447 AA; 49798 MW; B260087E1A71D3F9 CRC64;
MELSQMSELM GLSVLLGLLA LMATAAVARG WLRAGEERSG RPACQKANGF PPDKSSGSKK
QKQYQRIRKE KPQQHNFTHR LLAAALKSHS GNISCMDFSS NGKYLATCAD DRTIRIWSTK
DFLQREHRSM RANVELDHAT LVRFSPDCRA FIVWLANGDT LRVFKMTKRE DGGYTFTATP
EDFPKKHKAP VIDIGIANTG KFIMTASSDT TVLIWSLKGQ VLSTINTNQM NNTHAAVSPC
GRFVASCGFT PDVKVWEVCF GKKGEFQEVV RAFELKGHSA AVHSFAFSND SRRMASVSKD
GTWKLWDTDV EYKKKQDPYL LKTGRFEEAA GAAPCRLALS PNAQVLALAS GSSIHLYNTR
RGEKEECFER VHGECIANLS FDITGRFLAS CGDRAVRLFH NTPGHRAMVE EMQGHLKRAS
NESTRQRLQQ QLTQAQETLK SLGALKK
