true2004-02-162024-03-27183LIPB1_HUMANLiprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins.Serra-Pages C.Medley Q.G.Tang M.Hart A.Streuli M.doi:10.1074/jbc.273.25.156111998J. Biol. Chem.27315611-15620NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)VARIANT LEU-148TISSUE SPECIFICITYFUNCTIONPrediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.Nagase T.Ishikawa K.Kikuno R.Hirosawa M.Nomura N.Ohara O.doi:10.1093/dnares/6.5.3371999DNA Res.6337-345NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)VARIANT LEU-148BrainConstruction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.Nakajima D.Okazaki N.Yamakawa H.Kikuno R.Ohara O.Nagase T.doi:10.1093/dnares/9.3.992002DNA Res.999-106SEQUENCE REVISIONL2, a different isoform of Liprin beta 1, is expressed in high level in liver tissue.Junjian L.Cheng J.Rouli Z.Jie Z.2000-03EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5)VARIANT LEU-148hSGT2, a liprin related human gene, restores the glycolytic gene expression of the gcr2 mutant of Saccharomyces cerevisiae.Sato T.Jigami Y.Uemura H.2000-09EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5)VARIANT LEU-148The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project Teamdoi:10.1101/gr.25965042004Genome Res.142121-2127NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4)VARIANT LEU-148SkinLiprin beta 1, a member of the family of LAR transmembrane tyrosine phosphatase-interacting proteins, is a new target for the metastasis-associated protein S100A4 (Mts1).Kriajevska M.Fischer-Larsen M.Moertz E.Vorm O.Tulchinsky E.Grigorian M.Ambartsumian N.Lukanidin E.doi:10.1074/jbc.m1109762002002J. Biol. Chem.2775229-5235INTERACTION WITH S100A4Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.Olsen J.V.Blagoev B.Gnad F.Macek B.Kumar C.Mortensen P.Mann M.doi:10.1016/j.cell.2006.09.0262006Cell127635-648IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Cervix carcinomaA quantitative atlas of mitotic phosphorylation.Dephoure N.Zhou C.Villen J.Beausoleil S.A.Bakalarski C.E.Elledge S.J.Gygi S.P.doi:10.1073/pnas.08051391052008Proc. Natl. Acad. Sci. U.S.A.10510762-10767PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-37; THR-39; SER-40; SER-466; SER-579; SER-601; SER-999; SER-1001; SER-1003 AND THR-1005PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-523 (ISOFORM 2)IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.Gauci S.Helbig A.O.Slijper M.Krijgsveld J.Heck A.J.Mohammed S.doi:10.1021/ac90043092009Anal. Chem.814493-4501IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.Mayya V.Lundgren D.H.Hwang S.-I.Rezaul K.Wu L.Eng J.K.Rodionov V.Han D.K.doi:10.1126/scisignal.20000072009Sci. Signal.2RA46PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-601IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Leukemic T-cellLysine acetylation targets protein complexes and co-regulates major cellular functions.Choudhary C.Kumar C.Gnad F.Nielsen M.L.Rehman M.Walther T.C.Olsen J.V.Mann M.doi:10.1126/science.11753712009Science325834-840ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-322IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.Olsen J.V.Vermeulen M.Santamaria A.Kumar C.Miller M.L.Jensen L.J.Gnad F.Cox J.Jensen T.S.Nigg E.A.Brunak S.Mann M.doi:10.1126/scisignal.20004752010Sci. Signal.3RA3PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-37; SER-40; SER-999 AND SER-1001IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Initial characterization of the human central proteome.Burkard T.R.Planyavsky M.Kaupe I.Breitwieser F.P.Buerckstuemmer T.Bennett K.L.Superti-Furga G.Colinge J.doi:10.1186/1752-0509-5-172011BMC Syst. Biol.517IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.Rigbolt K.T.Prokhorova T.A.Akimov V.Henningsen J.Johansen P.T.Kratchmarova I.Kassem M.Mann M.Olsen J.V.Blagoev B.doi:10.1126/scisignal.20015702011Sci. Signal.4RS3PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-999IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Toward a comprehensive characterization of a human cancer cell phosphoproteome.Zhou H.Di Palma S.Preisinger C.Peng M.Polat A.N.Heck A.J.Mohammed S.doi:10.1021/pr300630k2013J. Proteome Res.12260-271PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-540; SER-601 AND SER-794IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]ErythroleukemiaAn enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y.Song C.Cheng K.Dong M.Wang F.Huang J.Sun D.Wang L.Ye M.Zou H.doi:10.1016/j.jprot.2013.11.0142014J. Proteomics96253-262PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-466; SER-540 AND SER-794IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]LiverSite-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.Hendriks I.A.Lyon D.Young C.Jensen L.J.Vertegaal A.C.Nielsen M.L.doi:10.1038/nsmb.33662017Nat. Struct. Mol. Biol.24325-336SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-471IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.Rosenhahn E.O'Brien T.J.Zaki M.S.Sorge I.Wieczorek D.Rostasy K.Vitobello A.Nambot S.Alkuraya F.S.Hashem M.O.Alhashem A.Tabarki B.Alamri A.S.Al Safar A.H.Bubshait D.K.Alahmady N.F.Gleeson J.G.Abdel-Hamid M.S.Lesko N.Ygberg S.Correia S.P.Wredenberg A.Alavi S.Seyedhassani S.M.Ebrahimi Nasab M.Hussien H.Omar T.E.I.Harzallah I.Touraine R.Tajsharghi H.Morsy H.Houlden H.Shahrooei M.Ghavideldarestani M.Abdel-Salam G.M.H.Torella A.Zanobio M.Terrone G.Brunetti-Pierri N.Omrani A.Hentschel J.Lemke J.R.Sticht H.Abou Jamra R.Brown A.E.X.Maroofian R.Platzer K.doi:10.1016/j.ajhg.2022.06.0082022Am. J. Hum. Genet.1091421-1435INVOLVEMENT IN NEDSMBAVARIANTS NEDSMBA 135-ARG--VAL-1011 DEL; 451-GLN--VAL-1011 DEL; 507-GLN--VAL-1011 DEL; VAL-732; 811-ARG--VAL-1011 DEL AND 883-ARG--VAL-1011 DELDifferent initiation.Different initiation.187512 sites, 1 O-linked glycan (2 sites)194 antibodies from 29 providershumanPPFIBP1Low tissue specificitygenephenotypeEukaryotaReceptor-type tyrosine-protein phosphatasesSignaling by ALK fusions and activated point mutants15 hits in 1146 CRISPR screenshumanTbioProteinExpressed in tendon of biceps brachii and 207 other cell types or tissuesbaseline and differentialSAM_liprin-beta1_2_repeat1SAM_liprin-beta1_2_repeat2SAM_liprin-beta1_2_repeat3Transcription Factor, Ets-1LiprinLiprin-beta_SAM_rpt_1Liprin-beta_SAM_rpt_2Liprin-beta_SAM_rpt_3SAMSAM/pointed_sfLAR INTERACTING PROTEIN LIP -RELATED PROTEINLIPRIN-BETA-1SAM_1SAM_2SAMSAM/Pointed domainSAM_DOMAINHSLiprin-beta-1Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1PTPRF-interacting protein-binding protein 1hSGT2PPFIBP1KIAA1230May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode.Widely expressed. Absent in liver.The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.The disease is caused by variants affecting the gene represented in this entry.Due to intron retention.Belongs to the liprin family. Liprin-beta subfamily.Truncated N-terminus.Extended N-terminus.Liprin-beta-111402411011SAM 1647711SAM 2719782SAM 3804876Disordered420439Disordered463634156405Basic and acidic residues472491Phosphoserine37Phosphothreonine39Phosphoserine40N6-acetyllysine322Phosphoserine434Phosphoserine466Phosphoserine540Phosphoserine579Phosphoserine601Phosphoserine636Phosphoserine794Phosphoserine999Phosphoserine1001Phosphoserine1003Phosphothreonine1005Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)471In isoform 3.153In isoform 5.VCAEARTKMGFPC158170In isoform 5.171In isoform 2 and isoform 4.233263In isoform 2.DENFKKKLKEKN302In isoform 2.KKGK349In isoform 2.LDRKRSASAPTL544In NEDSMBA.135L148In NEDSMBA.451In NEDSMBA.507In NEDSMBA; uncertain significance.V732In NEDSMBA.811In NEDSMBA.883K308R453A553Phosphoserine523false3false4false4false3true4PBX2SFNYWHAEYWHAZrep2006-03-072114024954efe17235ae3c5ea06e96ca0739d0b1MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSSMKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVDRDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSSSISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTASAPNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQSTTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKVKPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV2MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVDRDENFKKKLKEKNIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKKGKDGEYEELLNSSSISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTASAPNLDRKRSASAPTLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQSTTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKVKPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV3MLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSSMKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVDRDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSSSISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTASAPNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQSTTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKVKPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV4MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVDRDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSSSISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTASAPNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQSTTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKVKPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV5L2MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQVCAEARTKMGFPCtruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetrue