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AGAP9 Gene

protein-coding   GIFtS: 34
GCID: GC10P048189

ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain...

(Previous names: centaurin, gamma-like family, member 6)
(Previous symbol: CTGLF6)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 91 2     AGAP-92 3
CTGLF61 2 3     Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 92
Centaurin, Gamma-Like Family, Member 61 2     bA301J7.22
Centaurin-Gamma-Like Family Member 62 3     

External Ids:    HGNC: 234631   Entrez Gene: 6425172   Ensembl: ENSG000001980357   UniProtKB: Q5VTM23   

Export aliases for AGAP9 gene to outside databases

Previous GC identifers: GC10P047809 GC10P047834 GC10P048214


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AGAP9 Gene:
AGAP9 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 9) is a protein-coding gene. 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: AGAP9_HUMAN, Q5VTM2
Function: Putative GTPase-activating protein (Potential)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGAP9 gene promoter:
         Sox5   AML1a   FOXL1   Egr-4   CREB   HFH-1   FOXJ2 (long isoform)   deltaCREB   FOXJ2   Pax-4a   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGAP9


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

Entrez Gene cytogenetic band: 10q11.22   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

AGAP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGAP9 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P048189:  view genomic region     (about GC identifiers)

Start:
48,189,612 bp from pter      End:
48,237,508 bp from pter
Size:
47,897 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AGAP9_HUMAN, Q5VTM2 (See protein sequence)
Recommended Name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9  
Size: 703 amino acids; 77972 Da
Miscellaneous: Encoded by one of the numerous copies of centaurin gamma-like genes clustered in the q11 region of
chromosome 10
Sequence caution: Sequence=CAH72201.1; Type=Erroneous gene model prediction;
Secondary accessions: D3YTF3
Alternative splicing: 2 isoforms:  Q5VTM2-1   Q5VTM2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGAP9: NX_Q5VTM2

Explore proteomics data for AGAP9 at MOPED


See AGAP9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001177739.1  
ENSEMBL proteins: 
 ENSP00000403270   ENSP00000396454  

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

5 InterPro protein domains:
 IPR001849 Pleckstrin_homology
 IPR001164 ArfGAP
 IPR011993 PH_like_dom
 IPR027417 P-loop_NTPase
 IPR020683 Ankyrin_rpt-contain_dom

Graphical View of Domain Structure for InterPro Entry Q5VTM2

ProtoNet protein and cluster: Q5VTM2

UniProtKB/Swiss-Prot: AGAP9_HUMAN, Q5VTM2
Similarity: Belongs to the centaurin gamma-like family
Similarity: Contains 1 ANK repeat
Similarity: Contains 1 Arf-GAP domain
Similarity: Contains 1 PH domain


Find genes that share domains with AGAP9           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AGAP9_HUMAN, Q5VTM2
Function: Putative GTPase-activating protein (Potential)

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003924GTPase activity ----
GO:0005525GTP binding ----
GO:0008060ARF GTPase activator activity IEA--
GO:0008270zinc ion binding IEA--
     
Find genes that share ontologies with AGAP9           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for AGAP9

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
cytoskeleton1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGAP9
Interactions:

    Search GeneGlobe Interaction Network for AGAP9

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

Selected Interacting proteins for AGAP9 (ENSP000003964544) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
InteractantInteraction Details
GeneCardExternal ID(s)
AATFENSP000002254024STRING: ENSP00000225402
BYSLENSP000002303404STRING: ENSP00000230340
HEATR1ENSP000003555414STRING: ENSP00000355541
NOC4LENSP000003288544STRING: ENSP00000328854
NOL10ENSP000003711014STRING: ENSP00000371101
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0032312regulation of ARF GTPase activity IEA--

Find genes that share ontologies with AGAP9           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for AGAP9



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for AGAP9 gene: 
NM_001190810.1  

Unigene Cluster for AGAP9:

ArfGAP with GTPase domain, ankyrin repeat and PH domain 9
Hs.645346  [show with all ESTs]
Unigene Representative Sequence: AK160375
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000456984(uc001jeu.3 uc009xnl.2) ENST00000453919(uc001jet.3)

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Additional mRNA sequence: 

AK160375.1 BC020871.1 BC032492.1 BC171845.1 BC171847.1 

10 DOTS entries:

DT.95194678  DT.95196206  DT.99976048  DT.121289041  DT.100008541  DT.102828606  DT.121280386  DT.121288890 
DT.92455912  DT.95274220 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AGAP9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AGAP9 Expression
About this image

AGAP9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AGAP9 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.645346
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for AGAP9 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
oppossum
(Monodelphis domestica)
Mammalia --
Uncharacterized protein
58(a)
1 → many
2(536230123-536278792)
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
53(a)
1 → many
7(5139160-5321453)
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
56(a)
12(a)
many ↔ many
many ↔ many
1(119629499-119789786)
1(119461547-119529618)
zebrafish
(Danio rerio)
Actinopterygii agap16
ArfGAP with GTPase domain, ankyrin repeat and PH d...
43(a)
1 → many
6(15964316-16312330) ENSDARG00000062123
fruit fly
(Drosophila melanogaster)
Insecta cenG1A6
centaurin gamma 1A
25(a)
1 → many
2L(13835567-13898715)
worm
(Caenorhabditis elegans)
Secernentea cnt-26
Protein CNT-2, isoform b
19(a)
1 → many
III(10655770-10677522) WBGene00000566


ENSEMBL Gene Tree for AGAP9 (if available)
TreeFam Gene Tree for AGAP9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AGAP9 gene
LOC101060581  AGAP41 2  AGAP51 2  AGAP71 2  AGAP61 2  AGAP11  ASAP12  ARAP32  
ACAP22  ACAP32  ASAP22  ARAP12  AGAP32  ARAP22  AGAP22  AGAP12  
AGAP82  ACAP12  AGAP102  ASAP32  
17 SIMAP similar genes for AGAP9 using alignment to 1 protein entry:     AGAP9_HUMAN:
AGAP4    AGAP11    AGAP10    CENTG2    AGAP6    AGAP7
CTGLF11P    AGAP5    AGAP8    AGAP1    DKFZp761E2216    FLJ00312
AGAP3    ARFGAP1    CENTG3    AGAP2    ARFGAP3

Find genes that share paralogs with AGAP9           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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10 SNPs for AGAP9    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1909360001,2
--48234754(+) AGCTAA/GGAAAT 1 -- int10--------
rs2002838651,2
F--48235892(+) TCCACC/TGACTC 2 P L mis11Minor allele frequency- T:0.19EU 587
rs2006517671,2
F--48235983(+) CGCTGG/ATCCAA 2 /* /W stg11Minor allele frequency- A:0.00EU 593
rs2017491211,2
F--48236067(+) GGGAGC/TGGCAG 2 S syn11Minor allele frequency- T:0.01EU 543
rs1996685511,2
F--48236115(+) AGTGGA/GAAATG 2 G syn11Minor allele frequency- G:0.01EU 501
rs1996387101,2
----48235975(+) GGTCCA/GTGCGC 2 M V mis11Minor allele frequency- G:0.00EU 567
rs2018746031,2
----48235838(+) CATTAT/CGAAGA 2 /T /M mis11Minor allele frequency- C:0.00EU 593
rs2012180781,2
----48235951(+) ACACAC/ACCACC 2 /T /P mis11Minor allele frequency- A:0.00EU 593
rs2010480011,2
----48235833(+) GTGCAC/TATTAT 2 H syn11Minor allele frequency- T:0.00EU 593
rs2004071691,2
----48221572(+) ATTGAT/CAGTTT 1 -- int11Minor allele frequency- C:0.01EU 107

HapMap Linkage Disequilibrium report for AGAP9 (48189612 - 48237508 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for AGAP9 (see all 42):    About this table    
Variant IDTypeSubtypePubMed ID
esv2736152CNV Deletion23290073
nsv436102CNV Deletion17901297
esv2736163CNV Deletion23290073
esv2663732CNV Deletion23128226
esv2750898CNV Loss17911159
nsv895135CNV Loss21882294
dgv23e55CNV Loss17911159
dgv667n71CNV Loss21882294
nsv831854CNV Gain17160897
nsv831860CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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)
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PubMed articles for AGAP9 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AGAP9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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)
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Entrez Gene: 642517 HGNC: 23463 Ensembl:ENSG00000198035 euGenes: HUgn642517 ECgene: AGAP9
H-InvDB: AGAP9

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AGAP9 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AGAP9 gene:
Search GeneIP for patents involving AGAP9

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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