ID DEF_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 02-MAR-2010, entry version 47. DE RecName: Full=Digestive organ expansion factor homolog; GN Name=DEF; Synonyms=C1orf107; 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 [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY. RA Colinge J., Superti-Furga G., Bennett K.L.; RL Submitted (OCT-2008) to UniProtKB. RN [5] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-153, AND MASS RP SPECTROMETRY. 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). CC -!- FUNCTION: Regulates the p53 pathway to control the expansion CC growth of digestive organs (By similarity). CC -!- SUBCELLULAR LOCATION: Nucleus (By similarity). CC -!- SIMILARITY: Belongs to the def family. CC -!- SEQUENCE CAUTION: CC Sequence=CAI95693.1; Type=Erroneous gene model prediction; 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 IPI; IPI00004290; -. DR RefSeq; NP_055203.4; -. DR UniGene; Hs.194754; -. DR IntAct; Q68CQ4; 1. DR STRING; Q68CQ4; -. DR PeptideAtlas; Q68CQ4; -. DR PRIDE; Q68CQ4; -. DR Ensembl; ENST00000367020; ENSP00000355987; ENSG00000117597; Homo sapiens. DR Ensembl; ENST00000491415; ENSP00000419005; ENSG00000117597; Homo sapiens. DR GeneID; 27042; -. DR KEGG; hsa:27042; -. DR UCSC; uc001hhr.1; human. DR CTD; 27042; -. DR GeneCards; GC01P208067; -. DR HGNC; HGNC:28440; C1orf107. DR HPA; HPA026640; -. DR PharmGKB; PA142672491; -. DR eggNOG; prNOG08035; -. DR HOGENOM; HBG597089; -. DR HOVERGEN; HBG079696; -. DR InParanoid; Q68CQ4; -. DR OMA; GIRNLIF; -. DR OrthoDB; EOG95F08F; -. DR PhylomeDB; Q68CQ4; -. DR NextBio; 49618; -. DR ArrayExpress; Q68CQ4; -. DR Bgee; Q68CQ4; -. DR CleanEx; HS_C1orf107; -. DR Genevestigator; Q68CQ4; -. DR GermOnline; ENSG00000117597; Homo sapiens. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0007275; P:multicellular organismal development; IEA:UniProtKB-KW. DR InterPro; IPR010678; DUF1253. DR PANTHER; PTHR12933; DUF1253; 1. DR Pfam; PF06862; DUF1253; 1. PE 1: Evidence at protein level; KW Complete proteome; Developmental protein; Nucleus; Phosphoprotein; KW Polymorphism. 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 153 153 Phosphoserine. FT VARIANT 67 67 Q -> E (in dbSNP:rs585627). FT /FTId=VAR_028827. FT CONFLICT 111 111 G -> D (in Ref. 1; CAH18684/CAH56170). FT CONFLICT 258 258 T -> A (in Ref. 1; CAH56170). 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 //