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UniProtKB/Swiss-Prot entry Q9ULH1


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name DDEF1_HUMAN
Primary accession number Q9ULH1
Secondary accession numbers None
Integrated into Swiss-Prot on September 26, 2003
Sequence was last modified on December 12, 2006 (Sequence version 3)
Annotations were last modified on    July 22, 2008 (Entry version 67)
Name and origin of the protein
Protein name 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein
Synonyms PIP2-dependent ARF1 GAP
ADP-ribosylation factor-directed GTPase-activating protein 1
ARF GTPase-activating protein 1
Development and differentiation-enhancing factor 1
Differentiation-enhancing factor 1
DEF-1
Gene name
Name: DDEF1
Synonyms: ASAP1, KIAA1249
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04406; PubMed=16421571 [NCBI, ExPASy, EBI, Israel, Japan]
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-1129 (ISOFORM 2).
TISSUE=Bone marrow;
The German cDNA consortium;
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 184-1129 (ISOFORM 1).
TISSUE=Brain;
DOI=10.1093/dnares/6.5.337; PubMed=10574462 [NCBI, ExPASy, EBI, Israel, Japan]
Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.";
DNA Res. 6:337-345(1999).
[4]
PARTIAL NUCLEOTIDE SEQUENCE.
PubMed=9819391 [NCBI, ExPASy, EBI, Israel, Japan]
Brown M.T., Andrade J., Radhakrishna H., Donaldson J.G., Cooper J.A., Randazzo P.A.;
"ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src.";
Mol. Cell. Biol. 18:7038-7051(1998).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-839; SER-843 AND SER-1008, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1027, AND MASS SPECTROMETRY.
DOI=10.1021/pr0705441; PubMed=18220336 [NCBI, ExPASy, EBI, Israel, Japan]
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.";
J. Proteome Res. 7:1346-1351(2008).
[7]
STRUCTURE BY NMR OF 319-428.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the PH domain of PIP2-dependent ARF1 GTPase-activating protein from human.";
Submitted (JUN-2006) to the PDB data bank.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AC009682; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AC103725; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AC131568; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
AC139019; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
BX537768; CAD97831.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB033075; BAA86563.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_060952.2; -.
UniGene Hs.655552
3D structure databases
PDB
2DA0; NMR; -; A=319-428.[ExPASy / RCSB / EBI]
PDBsum 2DA0; -.
ModBase Q9ULH1.
Protein-protein interaction databases
IntAct Q9ULH1; -.
PTM databases
PhosphoSite Q9ULH1; -.
Organism-specific databases
H-InvDB HIX0007806; -.
HGNC HGNC:2720; DDEF1.
GenAtlas DDEF1.
MIM 605953; gene. [NCBI / EBI]
PharmGKB PA27189; -.
GeneCards Q9ULH1.
HUGE KIAA1249.
Gene expression databases
ArrayExpress Q9ULH1; -.
CleanEx HS_DDEF1; -.
GermOnline ENSG00000153317; Homo sapiens.
Ontologies
GO
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
QuickGo view.
Family and domain databases
InterPro IPR002110; ANK.
IPR001164; ArfGAP.
IPR000108; Neu_cyt_fact_2.
IPR001849; PH.
IPR001452; SH3.
Graphical view of domain structure.
Pfam PF00023; Ank; 2.
PF01412; ArfGap; 1.
PF00169; PH; 1.
PF00018; SH3_1; 1.
Pfam graphical view of domain structure.
PRINTS PR00499; P67PHOX.
PR00405; REVINTRACTNG.
PR00452; SH3DOMAIN.
ProDom PD000066; SH3; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00248; ANK; 2.
SM00105; ArfGap; 1.
SM00233; PH; 1.
SM00326; SH3; 1.
SMART graphical view of domain structure.
PROSITE PS50297; ANK_REP_REGION; 1.
PS50088; ANK_REPEAT; 1.
PS50115; ARFGAP; 1.
PS50003; PH_DOMAIN; 1.
PS50002; SH3; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q9ULH1.
Genome annotation databases
Ensembl ENSG00000153317; Homo sapiens. [Contig view]
GeneID 50807; -.
KEGG hsa:50807; -.
Phylogenomic databases
HOVERGEN Q9ULH1; -.
Other
SOURCE DDEF1; Homo sapiens.
ProtoNet Q9ULH1.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; ANK repeat; Cytoplasm; GTPase activation; Membrane; Metal-binding; Phosphoprotein; Repeat; SH3 domain; Zinc; Zinc-finger.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1129  1129     130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein. PRO_0000074196
DOMAIN   324    416  93     PH. 
DOMAIN   439    560  122     Arf-GAP. 
REPEAT   600    632  33     ANK 1. 
REPEAT   636    665  30     ANK 2. 
DOMAIN   1067   1129  63     SH3. 
ZN_FING   454    477  24     C4-type. 
COMPBIAS   783    993  211     Pro-rich. 
MOD_RES   839    839        Phosphoserine. 
MOD_RES   843    843        Phosphoserine. 
MOD_RES   1008   1008        Phosphoserine. 
MOD_RES   1027   1027        Phosphoserine. 
VAR_SEQ   303    303        E -> ESRR (in isoform 1). VSP_008365
CONFLICT   249    249        S -> N (in Ref. 2; CAD97831 and 3; BAA86563). 
STRAND   327    334  8      
STRAND   336    338  3      
STRAND   342    350  9      
STRAND   353    356  4      
STRAND   366    369  4      
TURN   370    372  3      
STRAND   373    377  5      
STRAND   379    383  5      
STRAND   385    389  5      
STRAND   392    397  6      
HELIX   401    419  19      
Sequence information
Length: 1129 AA [This is the length of the unprocessed precursor] Molecular weight: 125471 Da [This is the MW of the unprocessed precursor] CRC64: CA06E02702898347 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MRSSASRLSS FSSRDSLWNR MPDQISVSEF IAETTEDYNS PTTSSFTTRL HNCRNTVTLL 

        70         80         90        100        110        120 
EEALDQDRTA LQKVKKSVKA IYNSGQDHVQ NEENYAQVLD KFGSNFLSRD NPDLGTAFVK 

       130        140        150        160        170        180 
FSTLTKELST LLKNLLQGLS HNVIFTLDSL LKGDLKGVKG DLKKPFDKAW KDYETKFTKI 

       190        200        210        220        230        240 
EKEKREHAKQ HGMIRTEITG AEIAEEMEKE RRLFQLQMCE YLIKVNEIKT KKGVDLLQNL 

       250        260        270        280        290        300 
IKYYHAQCSF FQDGLKTADK LKQYIEKLAA DLYNIKQTQD EEKKQLTALR DLIKSSLQLD 

       310        320        330        340        350        360 
QKEDSQSRQG GYSMHQLQGN KEYGSEKKGY LLKKSDGIRK VWQRRKCSVK NGILTISHAT 

       370        380        390        400        410        420 
SNRQPAKLNL LTCQVKPNAE DKKSFDLISH NRTYHFQAED EQDYVAWISV LTNSKEEALT 

       430        440        450        460        470        480 
MAFRGEQSAG ENSLEDLTKA IIEDVQRLPG NDICCDCGSS EPTWLSTNLG ILTCIECSGI 

       490        500        510        520        530        540 
HREMGVHISR IQSLELDKLG TSELLLAKNV GNNSFNDIME ANLPSPSPKP TPSSDMTVRK 

       550        560        570        580        590        600 
EYITAKYVDH RFSRKTCSTS SAKLNELLEA IKSRDLLALI QVYAEGVELM EPLLEPGQEL 

       610        620        630        640        650        660 
GETALHLAVR TADQTSLHLV DFLVQNCGNL DKQTALGNTV LHYCSMYSKP ECLKLLLRSK 

       670        680        690        700        710        720 
PTVDIVNQAG ETALDIAKRL KATQCEDLLS QAKSGKFNPH VHVEYEWNLR QEEIDESDDD 

       730        740        750        760        770        780 
LDDKPSPIKK ERSPRPQSFC HSSSISPQDK LALPGFSTPR DKQRLSYGAF TNQIFVSTST 

       790        800        810        820        830        840 
DSPTSPTTEA PPLPPRNAGK GPTGPPSTLP LSTQTSSGSS TLSKKRPPPP PPGHKRTLSD 

       850        860        870        880        890        900 
PPSPLPHGPP NKGAVPWGND GGPSSSSKTT NKFEGLSQQS STSSAKTALG PRVLPKLPQK 

       910        920        930        940        950        960 
VALRKTDHLS LDKATIPPEI FQKSSQLAEL PQKPPPGDLP PKPTELAPKP QIGDLPPKPG 

       970        980        990       1000       1010       1020 
ELPPKPQLGD LPPKPQLSDL PPKPQMKDLP PKPQLGDLLA KSQTGDVSPK AQQPSEVTLK 

      1030       1040       1050       1060       1070       1080 
SHPLDLSPNV QSRDAIQKQA SEDSNDLTPT LPETPVPLPR KINTGKNKVR RVKTIYDCQA 

      1090       1100       1110       1120 
DNDDELTFIE GEVIIVTGEE DQEWWIGHIE GQPERKGVFP VSFVHILSD 

Q9ULH1 in FASTA format

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