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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASAP1 Gene

protein-coding   GIFtS: 55
GCID: GC08M131064

ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1

(Previous name: development and differentiation enhancing factor 1)
(Previous symbol: DDEF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 11 2     130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1
GTPase-Activating Protein2
DDEF11 2 3 5     AMAP12
Development And Differentiation-Enhancing Factor 12 3     CENTB42
130 KDa Phosphatidylinositol 4,5-Bisphosphate-Dependent ARF1
GTPase-Activating Protein2 3
     PAG22
DEF-12 3     PAP2
ADP-Ribosylation Factor-Directed GTPase-Activating Protein 12 3     ZG14P2
ARF GTPase-Activating Protein 12 3     Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 12
PIP2-Dependent ARF1 GAP2 3     Centaurin, Beta 42
Beta 41     KIAA12493
centaurin1     Differentiation-Enhancing Factor 13
Development And Differentiation Enhancing Factor 11     

External Ids:    HGNC: 27201   Entrez Gene: 508072   Ensembl: ENSG000001533177   OMIM: 6059535   UniProtKB: Q9ULH13   

Export aliases for ASAP1 gene to outside databases

Previous GC identifers: GC08M131134 GC08M126385


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASAP1 Gene:
This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is
stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for
ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct
2011)

GeneCards Summary for ASAP1 Gene: 
ASAP1 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 1) is a protein-coding gene. Diseases associated with ASAP1 include wiskott-aldrich syndrome, and gout. GO annotations related to this gene include phospholipid binding and ARF GTPase activator activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1
Function: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1
(ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with
cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal
transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types
(By similarity). Plays a role in ciliogenesis

Gene Wiki entry for ASAP1 (DDEF1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASAP1 gene promoter:
         HTF   LUN-1   STAT5A   Roaz   Arnt   POU2F1   FOXJ2 (long isoform)   POU2F1a   IRF-7A   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.1-q24.2   Ensembl cytogenetic band:  8q24.21   HGNC cytogenetic band: 8q24.1-q24.2

ASAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M131064:  view genomic region     (about GC identifiers)

Start:
131,064,353 bp from pter      End:
131,455,906 bp from pter
Size:
391,554 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1 (See protein sequence)
Recommended Name: Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1  
Size: 1129 amino acids; 125498 Da
Subunit: Homodimer. Interacts with SRC and CRK. Interacts with RAB11FIP3. Interacts with PTK2B/PYK2 (By
similarity). Interacts with CTTN. Interacts (via SH3 domain) with APC
Subcellular location: Cytoplasm (By similarity). Membrane (By similarity). Note=Predominantly cytoplasmic (By
similarity). Partially membrane-associated (By similarity)
5 PDB 3D structures from and Proteopedia for ASAP1:
2D1X (3D)        2DA0 (3D)        2ED1 (3D)        2RQT (3D)        2RQU (3D)    
Secondary accessions: B2RNV3
Alternative splicing: 2 isoforms:  Q9ULH1-1   Q9ULH1-2   

Explore the universe of human proteins at neXtProt for ASAP1: NX_Q9ULH1

Explore proteomics data for ASAP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues by SRC (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9ULH1

  • ASAP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASAP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001234925.1  NP_060952.2  

    ENSEMBL proteins: 
     ENSP00000429391   ENSP00000428463   ENSP00000429900   ENSP00000429829   ENSP00000430588  
     ENSP00000428936   ENSP00000428629   ENSP00000429614   ENSP00000430917   ENSP00000350297  

    Human Recombinant Protein Products for ASAP1: 
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    OriGene Protein Over-expression Lysate for ASAP1
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    Novus Biologicals ASAP1 Protein
    Novus Biologicals ASAP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--

    ASAP1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    ANKRD: Ankyrin repeat domain containing
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    5/7 InterPro protein domains (see all 7):
     IPR027267 AH/BAR-dom
     IPR001849 Pleckstrin_homology
     IPR001164 ArfGAP
     IPR001452 SH3_domain
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9ULH1

    ProtoNet protein and cluster: Q9ULH1

    4 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ASAP1_HUMAN, Q9ULH1
    Domain: The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation
    factors (By similarity)
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 1 Arf-GAP domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    ASAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASAP1_HUMAN, Q9ULH1
    Function: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1
    (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with
    cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal
    transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types
    (By similarity). Plays a role in ciliogenesis
    Enzyme regulation: Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12029088
    GO:0005543phospholipid binding IEA--
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    ASAP1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ASAP1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Stronger migration 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASAP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASAP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASAP1 

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    SwitchGear 3'UTR luciferase reporter plasmidASAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by focal adhesion kinase
    Signaling events mediated by focal adhesion kinase
    2Fc gamma R-mediated phagocytosis
    Fc gamma R-mediated phagocytosis
    3Endocytosis
    Endocytosis
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    5Arf1 pathway
    Arf1 pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ASAP1
        EGFR1 Signaling Pathway
    Arf1 pathway
    Signaling events mediated by focal adhesion kinase


    2         Kegg Pathways  (Kegg details for ASAP1):
        Endocytosis
    Fc gamma R-mediated phagocytosis


    ASAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/49 Interacting proteins for ASAP1 (Q9ULH11, 2, 3 ENSP000003502974) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-8109719 MINT-4299909 MINT-4299861 MINT-8109706 MINT-4299808 MINT-4299822 MINT-4300027 MINT-8109732 I2D: score=3 STRING: ENSP00000380921
    FYNP062411, 2, 3, ENSP000003576564EBI-346622,EBI-515315 MINT-7145736 MINT-8111103 I2D: score=3 STRING: ENSP00000357656
    PLCG1P191741, 2, 3, ENSP000002440074EBI-346622,EBI-79387 MINT-8112423 I2D: score=3 STRING: ENSP00000244007
    CTTNQ142472, 3, ENSP000003018434MINT-7145534 MINT-7145594 MINT-7145426 MINT-7145630 MINT-7145519 MINT-7145575 I2D: score=1 STRING: ENSP00000301843
    ARF1P840772, 3, ENSP000002721024MINT-68737 MINT-68738 I2D: score=2 STRING: ENSP00000272102
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032312regulation of ARF GTPase activity IEA--
    GO:0060271cilium morphogenesis IMP--

    ASAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASAP1

    10/379 HMDB Compounds for ASAP1 (see all 379)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PI(16:0/16:0)Phosphatidylinositol(32:0) (see all 8)----
    PI(16:0/16:1(9Z))Phosphatidylinositol(32:1) (see all 14)----
    PI(16:0/16:2(9Z,12Z))Phosphatidylinositol(16:0/16:2n4) (see all 18)----
    PI(16:0/18:0)Phosphatidylinositol(16:0/18:0) (see all 8)----
    PI(16:0/18:1(11Z))Phosphatidylinositol(16:0/18:1w7) (see all 14)----
    PI(16:0/18:1(9Z))Phosphatidylinositol(16:0/18:1) (see all 14)----
    PI(16:0/18:2(9Z,12Z))PIno(16:0/18:2) (see all 14)----
    PI(16:0/20:0)PI(16:0/20:0) (see all 8)----
    PI(16:0/20:2(11Z,14Z))Phosphatidylinositol(16:0/20:2n6) (see all 14)----
    PI(16:0/20:3(5Z,8Z,11Z))Phosphatidylinositol(36:3) (see all 14)----

    2 Novoseek inferred chemical compound relationships for ASAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 70.6 6 15632162 (2), 15212764 (1), 17112341 (1), 17253781 (1) (see all 5)
    tyrosine 16.1 12 16413287 (4), 9819391 (3), 17893324 (1), 10725410 (1)

    Search CenterWatch for drugs/clinical trials and news about ASAP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASAP1 gene (2 alternative transcripts): 
    NM_001247996.1  NM_018482.3  

    Unigene Cluster for ASAP1:

    ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
    Hs.655552  [show with all ESTs]
    Unigene Representative Sequence: NM_001247996
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524124 ENST00000521075 ENST00000518721 ENST00000519483 ENST00000520189
    ENST00000521057 ENST00000524018 ENST00000524367 ENST00000519169 ENST00000520342
    ENST00000520927 ENST00000518957 ENST00000524299 ENST00000521426 ENST00000520625
    ENST00000357668(uc003ysz.2 uc011liw.2 uc003yta.2)
    miRNA
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    Additional mRNA sequence: 

    AB033075.1 AF222859.1 AK056811.1 AK314695.1 BC020631.1 BC070268.1 BC105978.1 BC137135.1 
    BC144493.1 BX537768.1 

    13 DOTS entries:

    DT.113893  DT.95154575  DT.101974310  DT.120637740  DT.40130139  DT.100790873  DT.100790874  DT.97814682 
    DT.120637694  DT.95199024  DT.95258637  DT.91649188  DT.99942733 

    24/251 AceView cDNA sequences (see all 251):

    AI086337 CB215275 NM_018482 BQ645913 AI033286 AB033075 CN478464 AW631497 
    BM263270 CK823739 AA404427 BE326790 AI140755 BM974038 BQ005252 AW674949 
    C01679 AA732824 AA770033 AI080218 AI375806 AA872536 AA381646 AA381606 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ASAP1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
    SP1:                                                                                                              -                                         -   
    SP2:                                                                                                                                                        -   
    SP3:                    -                                                                                                                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30
    SP1:  -                                                         
    SP2:  -                 -                                       
    SP3:                                                            
    SP4:                                                            
    SP5:                    -                                       


    ECgene alternative splicing isoforms for ASAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTAATGT
    ASAP1 Expression
    About this image


    See ASAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASAP1

    SOURCE GeneReport for Unigene cluster: Hs.655552
        SABiosciences Custom PCR Arrays for ASAP1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ASAP1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asap11 , 5 ArfGAP with SH3 domain, ankyrin repeat and PH domain11, 5 90.46(n)1
    96.37(a)1
      15 (28.55 cM)5
    131961  NM_010026.21  NP_034156.21 
     640868575 
    chicken
    (Gallus gallus)
    Aves ASAP11 ArfGAP with SH3 domain, ankyrin repeat and PH domain more 82.36(n)
    91.92(a)
      428385  XM_425945.3  XP_425945.3 
    lizard
    (Anolis carolinensis)
    Reptilia ASAP16
    --
    Uncharacterized protein
    89(a)
    47(a)
    1 ↔ 1
    possible ortholog
    4(3711435-3874506)
    4(134213183-134262240)
    zebrafish
    (Danio rerio)
    Actinopterygii asap21 ArfGAP with SH3 domain, ankyrin repeat and PH domain more 69.78(n)
    79.02(a)
      565859  XM_003201278.1  XP_003201326.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303721 CG30372 49.54(n)
    45.13(a)
      35783  NM_001014504.2  NP_001014504.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGE16
    ADP-ribosylation factor (ARF) GTPase activating pr...
    18(a)
    1 → many
    IV(1487542-1488990)


    ENSEMBL Gene Tree for ASAP1 (if available)
    TreeFam Gene Tree for ASAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASAP1 gene
    AGAP52  AGAP62  ARAP32  ACAP22  ACAP32  ASAP22  ARAP12  AGAP32  
    ARAP22  AGAP22  AGAP42  AGAP12  AGAP82  ACAP12  AGAP72  AGAP102  
    AGAP92  ASAP32  
    11 SIMAP similar genes for ASAP1 using alignment to 9 protein entries:     ASAP1_HUMAN (see all proteins):
    DDEF2    ASAP3    ASAP2    SH3GL2    ARFGAP2    ARFGAP3
    ITSN2    ARFGAP1    SMAP1    ARHGEF7    CENTG2

    ASAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8228 SNPs in ASAP1 are shown (see all 8228)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58950331,2
    C--131067781(+) AAAAA-/AGGCTG 2 -- int1 trp30--------
    rs1885630951,2
    --131071415(+) TTAAAA/TTTTTT 2 -- int10--------
    rs597701711,2
    C--131072322(+) TTCTC-/AAAAAA
    AAAAAAAA
    AAAAA
    2 -- int10--------
    rs734055641,2
    C,F--131080853(+) CTATTG/AAACAA 2 -- int12Minor allele frequency- A:0.04WA 120
    rs1128602561,2
    C,F--131080901(+) CTATTC/TCTGCG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs287597241,2
    C,F--131080905(+) TCCTGC/TGGTAA 2 -- int15Minor allele frequency- T:0.24WA CSA NA 243
    rs117760781,2
    C,F,H--131080969(+) aagggG/Cgactg 2 -- int1 trp34Minor allele frequency- C:0.00NS EA 416
    rs764434851,2
    F--131081277(+) GAAAGG/TCAAAA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1472778021,2
    C--131083095(+) AGAGG-/GAGAGAG 2 -- int10--------
    rs1414680191,2
    C--131083113(+) AGAGG-/GAGAGAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASAP1 (131064353 - 131314353 bp, first 250kb of ASAP1)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ASAP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737580CNV Deletion23290073
    nsv507493CNV Insertion20534489
    nsv465808CNV Loss19166990
    esv26723CNV Loss19812545
    nsv465810CNV Gain19166990
    nsv831461CNV Gain17160897
    nsv524349CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605953    OMIM disorders: --

    7 diseases for ASAP1:    About MalaCards
    wiskott-aldrich syndrome    gout    multiple sclerosis    melanoma
    prostate cancer    prostatitis    breast cancer


    ASAP1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ASAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 4 20154719 (2), 18400762 (1), 15897555 (1)

    Genetic Association Database (GAD): ASAP1

    Export disorders for ASAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASAP1 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with ASAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src. (PubMed id 9819391)1, 2, 3, 9 Brown M.T....Randazzo P.A. (1998)
    2. Targeting AMAP1 and cortactin binding bearing an atypical src homology 3/proline interface for prevention of breast cancer invasion and metastasis. (PubMed id 16636290)1, 2, 9 Hashimoto S....Sabe H. (2006)
    3. Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. (PubMed id 19525955)1, 4 (2009)
    4. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (2006)
    5. 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. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    6. Src-dependent phosphorylation of ASAP1 regulates podosomes. (PubMed id 17893324)1, 9 Bharti S....Randazzo P.A. (2007)
    7. CrkL directs ASAP1 to peripheral focal adhesions. (PubMed id 12522101)1, 9 Oda A....Randazzo P. (2003)
    8. ASAP1 promotes tumor cell motility and invasiveness, stimulates metastasis formation in vivo, and correlates with poor survival in c olorectal cancer patients. (PubMed id 20154719)1, 9 MA1ller T....Sleeman J.P. (2010)
    9. Interaction of POB1, a downstream molecule of small G protein Ral, with PAG2, a paxillin-binding protein, is involved in cell migration. (PubMed id 12149250)1, 9 Oshiro T....Kikuchi A. (2002)
    10. ASAP1, a gene at 8q24, is associated with prostate cancer metastasis. (PubMed id 18519696)1, 9 Lin D....Wang Y.Z. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 50807 HGNC: 2720 AceView: DDEF1 Ensembl:ENSG00000153317 euGenes: HUgn50807
    ECgene: ASAP1 Kegg: 50807 H-InvDB: ASAP1

    (According to HUGE)
    About This Section
    HUGE: KIAA1249

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASAP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASAP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASAP1 gene:
    Search GeneIP for patents involving ASAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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