ESS2_HUMAN
ID ESS2_HUMAN Reviewed; 476 AA.
AC Q96DF8; Q49AH7; Q9BTZ4;
DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Splicing factor ESS-2 homolog {ECO:0000305};
DE AltName: Full=DiGeorge syndrome critical region 13;
DE AltName: Full=DiGeorge syndrome critical region 14;
DE AltName: Full=DiGeorge syndrome protein H;
DE Short=DGS-H;
DE AltName: Full=Protein ES2;
GN Name=ESS2 {ECO:0000312|HGNC:HGNC:16817};
GN Synonyms=DGCR13, DGCR14, DGSH, DGSI, ES2;
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].
RC TISSUE=Heart;
RX PubMed=8786095; DOI=10.1006/geno.1996.0082;
RA Lindsay E.A., Rizzu P., Antonacci R., Jurecic V., Delmas-Mata J.,
RA Lee C.-C., Kim U.-J., Scambler P.J., Baldini A.;
RT "A transcription map in the CATCH22 critical region: identification,
RT mapping, and ordering of four novel transcripts expressed in heart.";
RL Genomics 32:104-112(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RX PubMed=8703114; DOI=10.1007/s003359900197;
RA Rizzu P., Lindsay E.A., Taylor C., O'Donnell H., Levy A., Scambler P.J.,
RA Baldini A.;
RT "Cloning and comparative mapping of a gene from the commonly deleted region
RT of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.";
RL Mamm. Genome 7:639-643(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=8776594; DOI=10.1093/hmg/5.6.789;
RA Gong W., Emanuel B.S., Collins J., Kim D.H., Wang Z., Chen F., Zhang G.,
RA Roe B., Budarf M.L.;
RT "A transcription map of the DiGeorge and velo-cardio-facial syndrome
RT minimal critical region on 22q11.";
RL Hum. Mol. Genet. 5:789-800(1996).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND IDENTIFICATION IN THE SPLICEOSOMAL
RP C COMPLEX.
RX PubMed=11991638; DOI=10.1017/s1355838202021088;
RA Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J.;
RT "Purification and characterization of native spliceosomes suitable for
RT three-dimensional structural analysis.";
RL RNA 8:426-439(2002).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [9]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-391 AND SER-395, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-3; SER-292; THR-386; SER-391
RP AND SER-395, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [12]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-142, 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).
RN [13]
RP VARIANTS VAL-31; MET-336 AND VAL-423.
RX PubMed=9063747; DOI=10.1093/hmg/6.2.267;
RA Gong W., Emanuel B.S., Galili N., Kim D.H., Roe B.A., Driscoll D.A.,
RA Budarf M.L.;
RT "Structural and mutational analysis of a conserved gene (DGSI) from the
RT minimal DiGeorge syndrome critical region.";
RL Hum. Mol. Genet. 6:267-276(1997).
CC -!- FUNCTION: May be involved in pre-mRNA splicing.
CC {ECO:0000250|UniProtKB:P34420}.
CC -!- SUBUNIT: Identified in the spliceosome C complex.
CC {ECO:0000269|PubMed:11991638}.
CC -!- INTERACTION:
CC Q96DF8; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-3928124, EBI-742909;
CC Q96DF8; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-3928124, EBI-10961624;
CC Q96DF8; Q14129: DGCR6; NbExp=3; IntAct=EBI-3928124, EBI-12206931;
CC Q96DF8; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-3928124, EBI-742102;
CC Q96DF8; Q70Z53: FRA10AC1; NbExp=2; IntAct=EBI-3928124, EBI-710176;
CC Q96DF8; P14136: GFAP; NbExp=3; IntAct=EBI-3928124, EBI-744302;
CC Q96DF8; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-3928124, EBI-1055254;
CC Q96DF8; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-3928124, EBI-398874;
CC Q96DF8; O43482: OIP5; NbExp=3; IntAct=EBI-3928124, EBI-536879;
CC Q96DF8; P47897: QARS1; NbExp=3; IntAct=EBI-3928124, EBI-347462;
CC Q96DF8; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-3928124, EBI-358489;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P34420}.
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, brain and skeletal
CC muscle. Detected at low levels in placenta.
CC {ECO:0000269|PubMed:8776594}.
CC -!- SIMILARITY: Belongs to the ESS2 family. {ECO:0000305}.
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DR EMBL; L78010; AAL40039.1; -; mRNA.
DR EMBL; CR456344; CAG30230.1; -; mRNA.
DR EMBL; AC004471; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC003015; AAH03015.1; -; mRNA.
DR EMBL; BC006542; AAH06542.1; -; mRNA.
DR CCDS; CCDS13756.1; -.
DR RefSeq; NP_073210.1; NM_022719.2.
DR AlphaFoldDB; Q96DF8; -.
DR SMR; Q96DF8; -.
DR BioGRID; 113855; 132.
DR CORUM; Q96DF8; -.
DR IntAct; Q96DF8; 57.
DR MINT; Q96DF8; -.
DR STRING; 9606.ENSP00000252137; -.
DR iPTMnet; Q96DF8; -.
DR MetOSite; Q96DF8; -.
DR PhosphoSitePlus; Q96DF8; -.
DR BioMuta; ESS2; -.
DR DMDM; 27805463; -.
DR EPD; Q96DF8; -.
DR jPOST; Q96DF8; -.
DR MassIVE; Q96DF8; -.
DR MaxQB; Q96DF8; -.
DR PaxDb; Q96DF8; -.
DR PeptideAtlas; Q96DF8; -.
DR PRIDE; Q96DF8; -.
DR ProteomicsDB; 76286; -.
DR Antibodypedia; 245; 110 antibodies from 18 providers.
DR DNASU; 8220; -.
DR Ensembl; ENST00000252137.11; ENSP00000252137.6; ENSG00000100056.12.
DR GeneID; 8220; -.
DR KEGG; hsa:8220; -.
DR MANE-Select; ENST00000252137.11; ENSP00000252137.6; NM_022719.3; NP_073210.1.
DR UCSC; uc002zou.4; human.
DR CTD; 8220; -.
DR DisGeNET; 8220; -.
DR GeneCards; ESS2; -.
DR GeneReviews; ESS2; -.
DR HGNC; HGNC:16817; ESS2.
DR HPA; ENSG00000100056; Tissue enhanced (brain).
DR MalaCards; ESS2; -.
DR MIM; 601755; gene.
DR neXtProt; NX_Q96DF8; -.
DR OpenTargets; ENSG00000100056; -.
DR PharmGKB; PA134913100; -.
DR VEuPathDB; HostDB:ENSG00000100056; -.
DR eggNOG; KOG2627; Eukaryota.
DR GeneTree; ENSGT00390000009387; -.
DR HOGENOM; CLU_024820_0_1_1; -.
DR InParanoid; Q96DF8; -.
DR OMA; AQNDYLD; -.
DR PhylomeDB; Q96DF8; -.
DR TreeFam; TF105898; -.
DR PathwayCommons; Q96DF8; -.
DR SignaLink; Q96DF8; -.
DR BioGRID-ORCS; 8220; 682 hits in 1081 CRISPR screens.
DR ChiTaRS; DGCR14; human.
DR GeneWiki; DGCR14; -.
DR GenomeRNAi; 8220; -.
DR Pharos; Q96DF8; Tbio.
DR PRO; PR:Q96DF8; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q96DF8; protein.
DR Bgee; ENSG00000100056; Expressed in sperm and 172 other tissues.
DR ExpressionAtlas; Q96DF8; baseline and differential.
DR Genevisible; Q96DF8; HS.
DR GO; GO:0071013; C:catalytic step 2 spliceosome; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; IC:UniProtKB.
DR GO; GO:0007399; P:nervous system development; ISS:UniProtKB.
DR InterPro; IPR019148; Nuclear_protein_DGCR14_ESS-2.
DR PANTHER; PTHR12940; PTHR12940; 1.
DR Pfam; PF09751; Es2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Isopeptide bond; mRNA processing; mRNA splicing; Nucleus;
KW Phosphoprotein; Reference proteome; Spliceosome; Ubl conjugation.
FT CHAIN 1..476
FT /note="Splicing factor ESS-2 homolog"
FT /id="PRO_0000079876"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 91..148
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 413..465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..36
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 126..147
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 413..461
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:19413330"
FT MOD_RES 3
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 292
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 386
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 391
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 395
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:23186163"
FT CROSSLNK 142
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 31
FT /note="A -> V (in dbSNP:rs113904207)"
FT /evidence="ECO:0000269|PubMed:9063747"
FT /id="VAR_015117"
FT VARIANT 336
FT /note="V -> M (in dbSNP:rs17743887)"
FT /evidence="ECO:0000269|PubMed:9063747"
FT /id="VAR_015118"
FT VARIANT 423
FT /note="A -> V (in dbSNP:rs712965)"
FT /evidence="ECO:0000269|PubMed:9063747"
FT /id="VAR_015119"
SQ SEQUENCE 476 AA; 52568 MW; 4B1AAB7932789D73 CRC64;
METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV IQRDFFPDVE
KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP PYVTPATFET PEVHAGTGVV
GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV FLSRYTSEDN ASFQEIMEVA KERSRARHAW
LYQAEEEFEK RQKDNLELPS AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK
PRQVVHKNTR FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF
VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG RRERLGLKMA
NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR LVSRTASKYT DRALRASYTP
SPARSTHLKT PASGLQTPTS TPAPGSATRT PLTQDPASIT DNLLQLPARR KASDFF
