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    AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 [ Homo sapiens ]

    Gene ID: 116987, updated on 11-May-2012
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    Summary

    Official Symbol
    AGAP1provided by HGNC
    Official Full Name
    ArfGAP with GTPase domain, ankyrin repeat and PH domain 1provided by HGNC
    Primary source
    HGNC:16922
    See related
    Ensembl:ENSG00000157985; HPRD:16359; MIM:608651; Vega:OTTHUMG00000133293
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGAP1; AGAP-1; CENTG2; cnt-g2; KIAA1099; MGC71657
    Summary
    This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
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    Genomic context

    Location :
    2q37
    Sequence :
    Chromosome: 2; NC_000002.11 (236402736..237034127)
    See AGAP1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene SH3-domain binding protein 4 Neighboring gene centrosomal protein 19kDa pseudogene Neighboring gene AGAP1 intronic transcript 1 (non-protein coding) Neighboring gene thymosin beta 10 pseudogene 1 Neighboring gene gastrulation brain homeobox 2 Neighboring gene ankyrin repeat and SOCS box containing 18

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    2. Substrate specificities and activities of AZAP family Arf GAPs in vivo. Cuthbert EJ, et al. Am J Physiol Cell Physiol, 2008 Jan. PMID 18003747.
    3. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776.
    4. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674.
    5. The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3. Nie Z, et al. J Cell Sci, 2005 Aug 1. PMID 16079295.

    See all (13) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.
    2. AGAP1 is unique among the AZAPs in its specificity for Arf1, and this activity is dependent on its NH(2)-terminal GTPase-like domain. AGAP1 induce reciprocal activation of Arf6.
      Title: Substrate specificities and activities of AZAP family Arf GAPs in vivo.
    3. The AGAP1 has been found to associate with the adaptor protein complex AP-3 and regulate the function of AP-3 endosomes.
      Title: The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3.
    4. overexpression inhibited formation of platelet-derived growth factor-induced ruffles and also induced loss of actin stress fibers
      Title: AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton.
    5. AGAP1 is a novel binding partner of nitric oxide-sensitive guanylyl cyclase
      Title: AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase.
    6. CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism.
      Title: Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UPQ3 Q9UPQ3 AGAP1    HPRD  PubMed  
    Q9UPQ3 Q02108 GUCY1A3    HPRD  PubMed  
    Q9UPQ3 Q02153 GUCY1B3    HPRD  PubMed  
    BioGRID:125550 BioGRID:109143 GRB7    BioGRID  PubMed Two-hybrid 
    BioGRID:125550 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:125550 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ARF GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of ARF GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
    Names
    arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
    centaurin-gamma-2
    centaurin, gamma 2
    GTP-binding and GTPase-activating protein 1
    Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030314.1 RefSeqGene

      Range
      5001..642712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037131.2 → NP_001032208.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AC012305, AC019047, AK001722, AY033765, BC060814, BC140856, BC167153, CA446024
      Consensus CDS
      CCDS33408.1
      UniProtKB/TrEMBL
      B2RZG9
      UniProtKB/Swiss-Prot
      Q9UPQ3
      Related
      ENSP00000307634, OTTHUMP00000164398, ENST00000304032, OTTHUMT00000257076
      Conserved Domains (6) summary
      cd00204
      Location:736 – 825
      Blast Score: 163
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd04103
      Location:72 – 229
      Blast Score: 843
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      cd01250
      Location:349 – 412
      Blast Score: 222
      PH_centaurin; Centaurin Pleckstrin homology (PH) domain
      pfam12796
      Location:736 – 826
      Blast Score: 170
      Ank_2; Ankyrin repeats (3 copies)
      cl00273
      Location:545 – 586
      Blast Score: 123
      PH-like; Pleckstrin homology-like domain
      cl02464
      Location:609 – 725
      Blast Score: 414
      ArfGap; Putative GTPase activating protein for Arf

    2. NM_001244888.1 → NP_001231817.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC012305, BC060814, BC167157
      UniProtKB/TrEMBL
      B2RZG9
      UniProtKB/Swiss-Prot
      Q9UPQ3
      Conserved Domains (1) summary
      cd04103
      Location:72 – 229
      Blast Score: 837
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase

    3. NM_014914.4 → NP_055729.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC012305, AC019047, AF413078, AK001722, AY033765, BC060814, BC140856, CA446024
      Consensus CDS
      CCDS2514.1
      UniProtKB/Swiss-Prot
      Q9UPQ3
      Related
      ENSP00000338378, OTTHUMP00000164399, ENST00000336665, OTTHUMT00000257077
      Conserved Domains (6) summary
      cd00204
      Location:683 – 772
      Blast Score: 162
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd04103
      Location:72 – 229
      Blast Score: 845
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      cd01250
      Location:349 – 412
      Blast Score: 221
      PH_centaurin; Centaurin Pleckstrin homology (PH) domain
      pfam12796
      Location:683 – 773
      Blast Score: 169
      Ank_2; Ankyrin repeats (3 copies)
      cl00273
      Location:492 – 533
      Blast Score: 123
      PH-like; Pleckstrin homology-like domain
      cl02464
      Location:556 – 672
      Blast Score: 414
      ArfGap; Putative GTPase activating protein for Arf

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      236402736..237034127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      228413571..228828717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC012305.7 AAX88857.1
    genomic AC019047.7 AAX88852.1
    genomic AC064874.4 AAY24137.1
    genomic AC073989.6 None
    genomic AC079400.6 AAY14697.1
    genomic CH471063.1 EAW71078.1
      EAW71079.1
    mRNA AB029022.1 BAA83051.2
    mRNA AF413078.1 AAL04172.1
    mRNA AK001722.1 BAA91862.1
    mRNA AK295520.1 BAG58435.1
    mRNA AK300763.1 BAG62428.1
    mRNA AY033765.1 AAK56506.1
    mRNA BC060814.1 AAH60814.1
    mRNA BC140856.1 AAI40857.1
    mRNA BC167153.1 AAI67153.1
    mRNA BC167157.1 AAI67157.1
    mRNA BI868924.1 None
    mRNA BM752978.1 None
    mRNA CA446024.1 None
    mRNA CB961699.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4ZG22 GenPept UniProtKB/TrEMBL:Q4ZG22
    Q4ZG54 GenPept UniProtKB/TrEMBL:Q4ZG54
    Q53RW1 GenPept UniProtKB/TrEMBL:Q53RW1
    Q53S93 GenPept UniProtKB/TrEMBL:Q53S93
    Q9UPQ3.4 GenPept UniProtKB/Swiss-Prot:Q9UPQ3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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