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Protein

Digestive organ expansion factor homolog

Gene

DIEXF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regulates the p53 pathway to control the expansion growth of digestive organs.By similarity

GO - Molecular functioni

  • RNA binding Source: UniProtKB
  • rRNA binding Source: GO_Central
  • U3 snoRNA binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus and cytosol.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
Digestive organ expansion factor homolog
Gene namesi
Name:DIEXF
Synonyms:C1orf107, DEF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117597.17.
HGNCiHGNC:28440. DIEXF.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi27042.
OpenTargetsiENSG00000117597.
PharmGKBiPA142672491.

Polymorphism and mutation databases

BioMutaiDIEXF.
DMDMi117949399.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541491 – 756Digestive organ expansion factor homologAdd BLAST756

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ68CQ4.
MaxQBiQ68CQ4.
PaxDbiQ68CQ4.
PeptideAtlasiQ68CQ4.
PRIDEiQ68CQ4.

PTM databases

iPTMnetiQ68CQ4.
PhosphoSitePlusiQ68CQ4.

Expressioni

Gene expression databases

BgeeiENSG00000117597.
CleanExiHS_C1orf107.
ExpressionAtlasiQ68CQ4. baseline and differential.
GenevisibleiQ68CQ4. HS.

Organism-specific databases

HPAiHPA026640.
HPA061682.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117972. 31 interactors.
IntActiQ68CQ4. 12 interactors.
MINTiMINT-3002142.
STRINGi9606.ENSP00000419005.

Structurei

3D structure databases

ProteinModelPortaliQ68CQ4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi84 – 176Glu-richAdd BLAST93
Compositional biasi341 – 344Poly-Asp4

Sequence similaritiesi

Belongs to the def family.Curated

Phylogenomic databases

eggNOGiKOG2340. Eukaryota.
ENOG410XP00. LUCA.
GeneTreeiENSGT00390000000709.
HOVERGENiHBG079696.
InParanoidiQ68CQ4.
KOiK14774.
OMAiERAHHFR.
OrthoDBiEOG091G04CK.
PhylomeDBiQ68CQ4.
TreeFamiTF105930.

Family and domain databases

InterProiView protein in InterPro
IPR010678. Digest_organ_expansion_fac-prd.
IPR027417. P-loop_NTPase.
PANTHERiPTHR12933. PTHR12933. 1 hit.
PfamiView protein in Pfam
PF06862. UTP25. 1 hit.
SUPFAMiSSF52540. SSF52540. 2 hits.

Sequencei

Sequence statusi: Complete.

Q68CQ4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGKRGSRSQS QLLNTLTKKQ KKHLRDFGEE HPFYDRVSRK EAKPQICQLS
60 70 80 90 100
ESSDSSDSES DSESEPQQVS GYHRLLATLK NVSEEEEEDE EEEEEEDSIV
110 120 130 140 150
DDAEMNDEDG GSDVSVEEEM AAESTESPEN VALSADPEGK EDGEEPPGTS
160 170 180 190 200
QTSPEEFTDA KHESLFSLET NFLEEESGDN SSLKASQDPF LQHVNKELKE
210 220 230 240 250
KAIQAVATNP KTTHELKWPI LGQLFFSSKF QKLETFKPPK DIDLKSLHLQ
260 270 280 290 300
KPLESTWTKT NSQFLSGPQK SSSPFTPLQK ELFLIMNSYR DLFYPERTAL
310 320 330 340 350
KNGEEIRHVY CLHVINHILK ANAQVLGNNS RRRSQKFGVG DDDDFRDQGL
360 370 380 390 400
TRPKVLIVVP FREAALRVVQ LFISLLEGDS KKKIIVSNKK RFQGEYGSDP
410 420 430 440 450
EERPPNLKRP EDYEAVFVGN IDDHFRIGVA ILQRSIRLYA PFYSSDILIA
460 470 480 490 500
SPLGLRTIIG GEGEKKRDFD FLSSIELLII DQADIYLMQN WEHVLHLMNH
510 520 530 540 550
MNLLPLDSHG VDFSRVRMWS LNNWSKYYRQ TLLFGALQDA QINSVFNKYC
560 570 580 590 600
VNMQGQVAVR NVPMTGSISH VLVQLPHVFQ RMEAENLASV IDARFNFFVN
610 620 630 640 650
KILPQYRDAV MSHTLIYIPS YFDFVRLRNY FKKEELNFTH ICEYTQKSGV
660 670 680 690 700
SRARHFFLQG EKQFLLFTER FHFYKRYTIK GIRNLIFYEL PTYPHFYSEI
710 720 730 740 750
CNMLRATNRG EEATWTCTVL YSKYDAQRLA AVVGVERAAQ MLQSNKNVHL

FITGEK
Length:756
Mass (Da):87,055
Last modified:October 31, 2006 - v2
Checksum:iA8821B0AC4BF4067
GO

Sequence cautioni

The sequence CAI95693 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti111G → D in CAH18684 (PubMed:17974005).Curated1
Sequence conflicti111G → D in CAH56170 (PubMed:17974005).Curated1
Sequence conflicti258T → A in CAH56170 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02882767Q → E1 PublicationCorresponds to variant dbSNP:rs585627Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749825 mRNA. Translation: CAH18684.1.
BX648514 mRNA. Translation: CAH56170.1.
AL022398 Genomic DNA. Translation: CAA18546.1.
AL022398 Genomic DNA. Translation: CAI95693.1. Sequence problems.
BC022964 mRNA. Translation: AAH22964.1.
CCDSiCCDS1493.1.
RefSeqiNP_055203.4. NM_014388.6.
UniGeneiHs.194754.

Genome annotation databases

EnsembliENST00000491415; ENSP00000419005; ENSG00000117597.
GeneIDi27042.
KEGGihsa:27042.
UCSCiuc001hhr.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDIEXF_HUMAN
AccessioniPrimary (citable) accession number: Q68CQ4
Secondary accession number(s): O75992, Q4VY00, Q63HL9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: September 27, 2017
This is version 107 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families