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

Gene ID: 116987, updated on 12-May-2016
Official Symbol
AGAP1provided by HGNC
Official Full Name
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1provided by HGNC
Primary source
HGNC: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
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]
Orthologs
Location:
2q37
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (235494089..236131800)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (236402733..237040444)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373940 Neighboring gene uncharacterized LOC105373941 Neighboring gene AGAP1 intronic transcript 1 Neighboring gene uncharacterized LOC105373943 Neighboring gene uncharacterized LOC105373942 Neighboring gene thymosin beta 10 pseudogene 1 Neighboring gene uncharacterized LOC105373944 Neighboring gene gastrulation brain homeobox 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome wide association study of age at menarche in the Japanese population.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies AGAP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1099, MGC71657

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein transport 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
 
Preferred Names
arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1
Names
Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1
GTP-binding and GTPase-activating protein 1
centaurin, gamma 2

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_001037131.2NP_001032208.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001032208.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC012305, AC019047, AK001722, AY033765, BC060814, BC140856, BC167153, CA446024
    Consensus CDS
    CCDS33408.1
    UniProtKB/Swiss-Prot
    Q9UPQ3
    UniProtKB/TrEMBL
    B2RZG9
    Related
    ENSP00000307634, OTTHUMP00000164398, ENST00000304032, OTTHUMT00000257076
    Conserved Domains (6) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:736825
    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 ...
    cd01250
    Location:344592
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:73229
    Ras; Ras family
    pfam01412
    Location:609724
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:736826
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001244888.1NP_001231817.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) 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
    Consensus CDS
    CCDS58756.1
    UniProtKB/Swiss-Prot
    Q9UPQ3
    UniProtKB/TrEMBL
    B2RZG9
    Related
    ENSP00000387174, OTTHUMP00000203178, ENST00000409457, OTTHUMT00000329672
    Conserved Domains (2) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    pfam00071
    Location:73229
    Ras; Ras family
  3. NM_014914.4NP_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 exon compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini 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
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:683772
    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 ...
    cd01250
    Location:344539
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:73229
    Ras; Ras family
    pfam01412
    Location:556671
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:683773
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    235494089..236131800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712235.2XP_006712298.1  

    Conserved Domains (6) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:761850
    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 ...
    cd01250
    Location:344617
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:73229
    Ras; Ras family
    pfam01412
    Location:634749
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:761851
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_006712234.2XP_006712297.1  

    Conserved Domains (6) summary
    cd04103
    Location:72233
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:765854
    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 ...
    cd01250
    Location:348621
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:73233
    Ras; Ras family
    pfam01412
    Location:638753
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:765855
    Ank_2; Ankyrin repeats (3 copies)
  3. XM_005246059.3XP_005246116.1  

    See identical proteins and their annotated locations for XP_005246116.1

    UniProtKB/TrEMBL
    X5D293
    Conserved Domains (6) summary
    cd04103
    Location:72233
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:687776
    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 ...
    cd01250
    Location:348543
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:73233
    Ras; Ras family
    pfam01412
    Location:560675
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:687777
    Ank_2; Ankyrin repeats (3 copies)
  4. XM_011510549.1XP_011508851.1  

    Related
    ENSP00000386897, OTTHUMP00000203179, ENST00000409538, OTTHUMT00000329673
    Conserved Domains (6) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:9521041
    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 ...
    cd01250
    Location:613808
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:338498
    Ras; Ras family
    pfam01412
    Location:825940
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:9521042
    Ank_2; Ankyrin repeats (3 copies)
  5. XM_006712239.2XP_006712302.2  

    Conserved Domains (6) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:10301119
    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 ...
    cd01250
    Location:613886
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:338498
    Ras; Ras family
    pfam01412
    Location:9031018
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10301120
    Ank_2; Ankyrin repeats (3 copies)
  6. XM_011510547.1XP_011508849.1  

    Conserved Domains (6) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:10051094
    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 ...
    cd01250
    Location:613861
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:338498
    Ras; Ras family
    pfam01412
    Location:878993
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10051095
    Ank_2; Ankyrin repeats (3 copies)
  7. XM_011510548.1XP_011508850.1  

    Conserved Domains (6) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:9771066
    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 ...
    cd01250
    Location:613833
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:338498
    Ras; Ras family
    pfam01412
    Location:850965
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:9771067
    Ank_2; Ankyrin repeats (3 copies)
  8. XM_006712237.2XP_006712300.2  

    Conserved Domains (6) summary
    cd04103
    Location:337494
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:10261115
    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 ...
    cd01250
    Location:609882
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    pfam00071
    Location:338494
    Ras; Ras family
    pfam01412
    Location:8991014
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10261116
    Ank_2; Ankyrin repeats (3 copies)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    236408551..237046244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)