EPMIP_HUMAN
ID EPMIP_HUMAN Reviewed; 607 AA.
AC Q7L775; O94866; Q9H3L3;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=EPM2A-interacting protein 1;
DE AltName: Full=Laforin-interacting protein;
GN Name=EPM2AIP1; Synonyms=KIAA0766; ORFNames=My007;
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 [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND
RP INTERACTION WITH EPM2A.
RX PubMed=12782127; DOI=10.1016/s0888-7543(03)00094-6;
RA Ianzano L., Zhao X.C., Minassian B.A., Scherer S.W.;
RT "Identification of a novel protein interacting with laforin, the EPM2A
RT progressive myoclonus epilepsy gene product.";
RL Genomics 81:579-587(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Zhou Z.X., Ying K., Zheng Z.H.;
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=9872452; DOI=10.1093/dnares/5.5.277;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XI. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:277-286(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-146, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
CC -!- SUBUNIT: Interacts with EPM2A. {ECO:0000269|PubMed:12782127}.
CC -!- INTERACTION:
CC Q7L775; P12814: ACTN1; NbExp=6; IntAct=EBI-6255981, EBI-351710;
CC Q7L775; Q8NEU8: APPL2; NbExp=3; IntAct=EBI-6255981, EBI-741261;
CC Q7L775; Q12774: ARHGEF5; NbExp=3; IntAct=EBI-6255981, EBI-602199;
CC Q7L775; Q9BV19: C1orf50; NbExp=3; IntAct=EBI-6255981, EBI-2874661;
CC Q7L775; Q9NPC3: CCNB1IP1; NbExp=4; IntAct=EBI-6255981, EBI-745269;
CC Q7L775; Q8N137: CNTROB; NbExp=3; IntAct=EBI-6255981, EBI-947360;
CC Q7L775; Q8N684: CPSF7; NbExp=3; IntAct=EBI-6255981, EBI-746909;
CC Q7L775; Q8N9I9: DTX3; NbExp=3; IntAct=EBI-6255981, EBI-2340258;
CC Q7L775; Q7L775: EPM2AIP1; NbExp=4; IntAct=EBI-6255981, EBI-6255981;
CC Q7L775; Q13643: FHL3; NbExp=3; IntAct=EBI-6255981, EBI-741101;
CC Q7L775; P14136: GFAP; NbExp=3; IntAct=EBI-6255981, EBI-744302;
CC Q7L775; O75031: HSF2BP; NbExp=3; IntAct=EBI-6255981, EBI-7116203;
CC Q7L775; Q719H9: KCTD1; NbExp=3; IntAct=EBI-6255981, EBI-9027502;
CC Q7L775; Q7L273: KCTD9; NbExp=3; IntAct=EBI-6255981, EBI-4397613;
CC Q7L775; P08779: KRT16; NbExp=3; IntAct=EBI-6255981, EBI-356410;
CC Q7L775; O95678: KRT75; NbExp=3; IntAct=EBI-6255981, EBI-2949715;
CC Q7L775; O43679: LDB2; NbExp=3; IntAct=EBI-6255981, EBI-2865580;
CC Q7L775; Q52LA3: LIN52; NbExp=3; IntAct=EBI-6255981, EBI-1389456;
CC Q7L775; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-6255981, EBI-739832;
CC Q7L775; Q13257: MAD2L1; NbExp=3; IntAct=EBI-6255981, EBI-78203;
CC Q7L775; P50222: MEOX2; NbExp=3; IntAct=EBI-6255981, EBI-748397;
CC Q7L775; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-6255981, EBI-16439278;
CC Q7L775; Q9BVI4: NOC4L; NbExp=3; IntAct=EBI-6255981, EBI-395927;
CC Q7L775; Q6GQQ9: OTUD7B; NbExp=3; IntAct=EBI-6255981, EBI-527784;
CC Q7L775; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-6255981, EBI-79165;
CC Q7L775; Q9NRG1: PRTFDC1; NbExp=6; IntAct=EBI-6255981, EBI-739759;
CC Q7L775; O14818: PSMA7; NbExp=3; IntAct=EBI-6255981, EBI-603272;
CC Q7L775; Q15415: RBMY1J; NbExp=3; IntAct=EBI-6255981, EBI-8642021;
CC Q7L775; Q04864: REL; NbExp=3; IntAct=EBI-6255981, EBI-307352;
CC Q7L775; P36955: SERPINF1; NbExp=11; IntAct=EBI-6255981, EBI-2932733;
CC Q7L775; Q6NVH7: SWSAP1; NbExp=3; IntAct=EBI-6255981, EBI-5281637;
CC Q7L775; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-6255981, EBI-1105213;
CC Q7L775; Q13829: TNFAIP1; NbExp=3; IntAct=EBI-6255981, EBI-2505861;
CC Q7L775; O95271: TNKS; NbExp=3; IntAct=EBI-6255981, EBI-1105254;
CC Q7L775; P62995: TRA2B; NbExp=3; IntAct=EBI-6255981, EBI-725485;
CC Q7L775; Q86XT4: TRIM50; NbExp=3; IntAct=EBI-6255981, EBI-9867283;
CC Q7L775; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-6255981, EBI-2130429;
CC Q7L775; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-6255981, EBI-11975223;
CC Q7L775; Q8N1B4: VPS52; NbExp=6; IntAct=EBI-6255981, EBI-2799833;
CC Q7L775; O43829: ZBTB14; NbExp=6; IntAct=EBI-6255981, EBI-10176632;
CC Q7L775; Q9NZV7: ZIM2; NbExp=6; IntAct=EBI-6255981, EBI-11962760;
CC Q7L775; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-6255981, EBI-4395669;
CC Q7L775; Q8TBC5: ZSCAN18; NbExp=3; IntAct=EBI-6255981, EBI-3919096;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000269|PubMed:12782127}.
CC -!- TISSUE SPECIFICITY: Expressed in heart, brain, placenta, liver,
CC pancreas, kidney and skeletal muscle. {ECO:0000269|PubMed:12782127}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG43120.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=AAG43120.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAA34486.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY178832; AAO21376.1; -; mRNA.
DR EMBL; AF059751; AAG43120.1; ALT_SEQ; mRNA.
DR EMBL; AB018309; BAA34486.2; ALT_INIT; mRNA.
DR EMBL; BC064696; AAH64696.1; -; mRNA.
DR CCDS; CCDS46790.1; -.
DR RefSeq; NP_055620.1; NM_014805.3.
DR AlphaFoldDB; Q7L775; -.
DR BioGRID; 115186; 66.
DR IntAct; Q7L775; 47.
DR STRING; 9606.ENSP00000406027; -.
DR GlyGen; Q7L775; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7L775; -.
DR PhosphoSitePlus; Q7L775; -.
DR BioMuta; EPM2AIP1; -.
DR DMDM; 51315907; -.
DR EPD; Q7L775; -.
DR jPOST; Q7L775; -.
DR MassIVE; Q7L775; -.
DR MaxQB; Q7L775; -.
DR PaxDb; Q7L775; -.
DR PeptideAtlas; Q7L775; -.
DR PRIDE; Q7L775; -.
DR ProteomicsDB; 68825; -.
DR Antibodypedia; 28166; 403 antibodies from 28 providers.
DR DNASU; 9852; -.
DR Ensembl; ENST00000322716.8; ENSP00000406027.1; ENSG00000178567.8.
DR GeneID; 9852; -.
DR KEGG; hsa:9852; -.
DR MANE-Select; ENST00000322716.8; ENSP00000406027.1; NM_014805.4; NP_055620.1.
DR UCSC; uc003cgk.4; human.
DR CTD; 9852; -.
DR DisGeNET; 9852; -.
DR GeneCards; EPM2AIP1; -.
DR HGNC; HGNC:19735; EPM2AIP1.
DR HPA; ENSG00000178567; Low tissue specificity.
DR MIM; 607911; gene.
DR neXtProt; NX_Q7L775; -.
DR OpenTargets; ENSG00000178567; -.
DR PharmGKB; PA134917440; -.
DR VEuPathDB; HostDB:ENSG00000178567; -.
DR eggNOG; ENOG502QS6T; Eukaryota.
DR GeneTree; ENSGT00950000182812; -.
DR HOGENOM; CLU_021316_5_1_1; -.
DR InParanoid; Q7L775; -.
DR OMA; HGERING; -.
DR OrthoDB; 788135at2759; -.
DR PhylomeDB; Q7L775; -.
DR TreeFam; TF328297; -.
DR PathwayCommons; Q7L775; -.
DR SignaLink; Q7L775; -.
DR BioGRID-ORCS; 9852; 21 hits in 1076 CRISPR screens.
DR ChiTaRS; EPM2AIP1; human.
DR GenomeRNAi; 9852; -.
DR Pharos; Q7L775; Tdark.
DR PRO; PR:Q7L775; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q7L775; protein.
DR Bgee; ENSG00000178567; Expressed in middle temporal gyrus and 212 other tissues.
DR ExpressionAtlas; Q7L775; baseline and differential.
DR Genevisible; Q7L775; HS.
DR GO; GO:0098554; C:cytoplasmic side of endoplasmic reticulum membrane; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IEA:Ensembl.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0005978; P:glycogen biosynthetic process; IEA:Ensembl.
DR GO; GO:2000467; P:positive regulation of glycogen (starch) synthase activity; IEA:Ensembl.
DR GO; GO:0045725; P:positive regulation of glycogen biosynthetic process; IBA:GO_Central.
DR GO; GO:0032868; P:response to insulin; IEA:Ensembl.
DR InterPro; IPR026630; EPM2A-int_1.
DR InterPro; IPR040647; SPIN-DOC_Znf-C2H2.
DR PANTHER; PTHR45913; PTHR45913; 1.
DR Pfam; PF18658; zf-C2H2_12; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Phosphoprotein; Reference proteome.
FT CHAIN 1..607
FT /note="EPM2A-interacting protein 1"
FT /id="PRO_0000086992"
FT MOD_RES 146
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT VARIANT 333
FT /note="V -> F (in dbSNP:rs4647202)"
FT /id="VAR_050969"
FT VARIANT 360
FT /note="A -> S (in dbSNP:rs4647201)"
FT /id="VAR_050970"
FT CONFLICT 411..413
FT /note="HIC -> QIW (in Ref. 2; AAG43120)"
FT /evidence="ECO:0000305"
FT CONFLICT 424
FT /note="R -> S (in Ref. 2; AAG43120)"
FT /evidence="ECO:0000305"
FT CONFLICT 430
FT /note="N -> I (in Ref. 2; AAG43120)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 607 AA; 70370 MW; 417936544D570CAE CRC64;
MWMTPKRSKM EVDEALVFRP EWTQRYLVVE PPEGDGALCL VCRRLIVATR ERDVRRHYEA
EHEYYERYVA DGERAALVER LRQGDLPVAS FTPEERAARA GLGLCRLLAL KGRGWGEGDF
VYQCMEVLLR EVLPEHVSVL QGVDLSPDIT RQRILSIDRN LRNQLFNRAR DFKAYSLALD
DQAFVAYENY LLVFIRGVGP ELEVQEDLLT IINLTHHFSV GALMSAILES LQTAGLSLQR
MVGLTTTHTL RMIGENSGLV SYMREKAVSP NCWNVIHYSG FLHLELLSSY DVDVNQIINT
ISEWIVLIKT RGVRRPEFQT LLTESESEHG ERVNGRCLNN WLRRGKTLKL IFSLRKEMEA
FLVSVGATTV HFSDKQWLCD FGFLVDIMEH LRELSEELRV SKVFAAAAFD HICTFEVKLN
LFQRHIEEKN LTDFPALREV VDELKQQNKE DEKIFDPDRY QMVICRLQKE FERHFKDLRF
IKKDLELFSN PFNFKPEYAP ISVRVELTKL QANTNLWNEY RIKDLGQFYA GLSAESYPII
KGVACKVASL FDSNQICEKA FSYLTRNQHT LSQPLTDEHL QALFRVATTE MEPGWDDLVR
ERNESNP
