ID DIEXF_HUMAN Reviewed; 756 AA. AC Q68CQ4; O75992; Q4VY00; Q63HL9; DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot. DT 31-OCT-2006, sequence version 2. DT 28-FEB-2018, entry version 108. DE RecName: Full=Digestive organ expansion factor homolog; GN Name=DIEXF; Synonyms=C1orf107, DEF; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLU-67. RC TISSUE=Endometrial adenocarcinoma, and Fetal kidney; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., RA Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Cervix; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=19413330; DOI=10.1021/ac9004309; RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., RA Mohammed S.; RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in RT a refined SCX-based approach."; RL Anal. Chem. 81:4493-4501(2009). RN [5] 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., RA Buerckstuemmer T., 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 [6] RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. RX PubMed=22002106; DOI=10.1074/mcp.M111.013680; RA Ahmad Y., Boisvert F.M., Lundberg E., Uhlen M., Lamond A.I.; RT "Systematic analysis of protein pools, isoforms, and modifications RT affecting turnover and subcellular localization."; RL Mol. Cell. Proteomics 11:M111.013680.01-M111.013680.15(2012). RN [7] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10, AND IDENTIFICATION RP BY MASS SPECTROMETRY [LARGE SCALE 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). CC -!- FUNCTION: Regulates the p53 pathway to control the expansion CC growth of digestive organs. {ECO:0000250}. CC -!- INTERACTION: CC Q8NHQ1:CEP70; NbExp=5; IntAct=EBI-747711, EBI-739624; CC P43364-2:MAGEA11; NbExp=3; IntAct=EBI-747711, EBI-10178634; CC Q9UJV3-2:MID2; NbExp=3; IntAct=EBI-747711, EBI-10172526; CC Q8TD10:MIPOL1; NbExp=3; IntAct=EBI-747711, EBI-2548751; CC Q96T51:RUFY1; NbExp=3; IntAct=EBI-747711, EBI-3941207; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, nucleolus CC {ECO:0000269|PubMed:22002106}. CC -!- SIMILARITY: Belongs to the def family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=CAI95693.1; Type=Erroneous gene model prediction; 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; CR749825; CAH18684.1; -; mRNA. DR EMBL; BX648514; CAH56170.1; -; mRNA. DR EMBL; AL022398; CAA18546.1; -; Genomic_DNA. DR EMBL; AL022398; CAI95693.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC022964; AAH22964.1; -; mRNA. DR CCDS; CCDS1493.1; -. DR RefSeq; NP_055203.4; NM_014388.6. DR UniGene; Hs.194754; -. DR ProteinModelPortal; Q68CQ4; -. DR BioGrid; 117972; 31. DR IntAct; Q68CQ4; 12. DR STRING; 9606.ENSP00000419005; -. DR iPTMnet; Q68CQ4; -. DR PhosphoSitePlus; Q68CQ4; -. DR BioMuta; DIEXF; -. DR DMDM; 117949399; -. DR EPD; Q68CQ4; -. DR MaxQB; Q68CQ4; -. DR PaxDb; Q68CQ4; -. DR PeptideAtlas; Q68CQ4; -. DR PRIDE; Q68CQ4; -. DR Ensembl; ENST00000491415; ENSP00000419005; ENSG00000117597. DR GeneID; 27042; -. DR KEGG; hsa:27042; -. DR UCSC; uc001hhr.3; human. DR CTD; 27042; -. DR DisGeNET; 27042; -. DR EuPathDB; HostDB:ENSG00000117597.17; -. DR GeneCards; DIEXF; -. DR HGNC; HGNC:28440; DIEXF. DR HPA; HPA026640; -. DR HPA; HPA061682; -. DR neXtProt; NX_Q68CQ4; -. DR OpenTargets; ENSG00000117597; -. DR PharmGKB; PA142672491; -. DR eggNOG; KOG2340; Eukaryota. DR eggNOG; ENOG410XP00; LUCA. DR GeneTree; ENSGT00390000000709; -. DR HOVERGEN; HBG079696; -. DR InParanoid; Q68CQ4; -. DR KO; K14774; -. DR OMA; ERAHHFR; -. DR OrthoDB; EOG091G04CK; -. DR PhylomeDB; Q68CQ4; -. DR TreeFam; TF105930; -. DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol. DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol. DR ChiTaRS; DIEXF; human. DR GenomeRNAi; 27042; -. DR PRO; PR:Q68CQ4; -. DR Proteomes; UP000005640; Chromosome 1. DR Bgee; ENSG00000117597; -. DR CleanEx; HS_C1orf107; -. DR ExpressionAtlas; Q68CQ4; baseline and differential. DR Genevisible; Q68CQ4; HS. DR GO; GO:0005730; C:nucleolus; IDA:HGNC. DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome. DR GO; GO:0032040; C:small-subunit processome; IBA:GO_Central. DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB. DR GO; GO:0019843; F:rRNA binding; IBA:GO_Central. DR GO; GO:0034511; F:U3 snoRNA binding; IBA:GO_Central. DR GO; GO:0000462; P:maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); IBA:GO_Central. DR GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW. DR GO; GO:0006364; P:rRNA processing; TAS:Reactome. DR InterPro; IPR010678; Digest_organ_expansion_fac-prd. DR InterPro; IPR027417; P-loop_NTPase. DR PANTHER; PTHR12933; PTHR12933; 1. DR Pfam; PF06862; UTP25; 1. DR SUPFAM; SSF52540; SSF52540; 2. PE 1: Evidence at protein level; KW Complete proteome; Developmental protein; Nucleus; Phosphoprotein; KW Polymorphism; Reference proteome. FT CHAIN 1 756 Digestive organ expansion factor homolog. FT /FTId=PRO_0000254149. FT COMPBIAS 84 176 Glu-rich. FT COMPBIAS 341 344 Poly-Asp. FT MOD_RES 10 10 Phosphoserine. FT {ECO:0000244|PubMed:23186163}. FT VARIANT 67 67 Q -> E (in dbSNP:rs585627). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_028827. FT CONFLICT 111 111 G -> D (in Ref. 1; CAH18684/CAH56170). FT {ECO:0000305}. FT CONFLICT 258 258 T -> A (in Ref. 1; CAH56170). FT {ECO:0000305}. SQ SEQUENCE 756 AA; 87055 MW; A8821B0AC4BF4067 CRC64; MGKRGSRSQS QLLNTLTKKQ KKHLRDFGEE HPFYDRVSRK EAKPQICQLS ESSDSSDSES DSESEPQQVS GYHRLLATLK NVSEEEEEDE EEEEEEDSIV DDAEMNDEDG GSDVSVEEEM AAESTESPEN VALSADPEGK EDGEEPPGTS QTSPEEFTDA KHESLFSLET NFLEEESGDN SSLKASQDPF LQHVNKELKE KAIQAVATNP KTTHELKWPI LGQLFFSSKF QKLETFKPPK DIDLKSLHLQ KPLESTWTKT NSQFLSGPQK SSSPFTPLQK ELFLIMNSYR DLFYPERTAL KNGEEIRHVY CLHVINHILK ANAQVLGNNS RRRSQKFGVG DDDDFRDQGL TRPKVLIVVP FREAALRVVQ LFISLLEGDS KKKIIVSNKK RFQGEYGSDP EERPPNLKRP EDYEAVFVGN IDDHFRIGVA ILQRSIRLYA PFYSSDILIA SPLGLRTIIG GEGEKKRDFD FLSSIELLII DQADIYLMQN WEHVLHLMNH MNLLPLDSHG VDFSRVRMWS LNNWSKYYRQ TLLFGALQDA QINSVFNKYC VNMQGQVAVR NVPMTGSISH VLVQLPHVFQ RMEAENLASV IDARFNFFVN KILPQYRDAV MSHTLIYIPS YFDFVRLRNY FKKEELNFTH ICEYTQKSGV SRARHFFLQG EKQFLLFTER FHFYKRYTIK GIRNLIFYEL PTYPHFYSEI CNMLRATNRG EEATWTCTVL YSKYDAQRLA AVVGVERAAQ MLQSNKNVHL FITGEK //