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

Gene ID: 116987, updated on 11-Sep-2019

Summary

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 MIM:608651
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]
Expression
Broad expression in brain (RPKM 11.1), colon (RPKM 5.1) and 23 other tissues See more
Orthologs

Genomic context

See AGAP1 in Genome Data Viewer
Location:
2q37.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (235494043..236131795)
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 trinucleotide repeat containing 17 Neighboring gene Sharpr-MPRA regulatory region 15430 Neighboring gene uncharacterized LOC105373943 Neighboring gene uncharacterized LOC107986000 Neighboring gene uncharacterized LOC105373942 Neighboring gene VISTA enhancer hs521 Neighboring gene thymosin beta 10 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 6211 Neighboring gene VISTA enhancer hs921 Neighboring gene RNA, U7 small nuclear 127 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 204, pseudogene Neighboring gene translation initiation factor IF-2-like Neighboring gene VISTA enhancer hs249 Neighboring gene gastrulation brain homeobox 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
GTPase 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
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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
    4955..642705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037131.3NP_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
    ENSP00000307634.7, ENST00000304032.13
    Conserved Domains (8) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73235
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:347411
    PH; PH domain
    pfam01412
    Location:611725
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:736826
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:768799
    ANK; ANK repeat [structural motif]
  2. NM_001244888.2NP_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, AC064874, BC060814, BC167157
    Consensus CDS
    CCDS58756.1
    UniProtKB/Swiss-Prot
    Q9UPQ3
    UniProtKB/TrEMBL
    B2RZG9
    Related
    ENSP00000387174.1, ENST00000409457.5
    Conserved Domains (2) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73235
    RAS; Ras subfamily of RAS small GTPases
  3. NM_014914.5NP_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
    ENSP00000338378.5, ENST00000336665.9
    Conserved Domains (8) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73235
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:347411
    PH; PH domain
    pfam01412
    Location:558672
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:683773
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:715746
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    235494043..236131795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712235.3XP_006712298.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X9

    Conserved Domains (8) summary
    cd04103
    Location:72229
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73235
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:561612
    PH; PH domain
    pfam01412
    Location:636750
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:761851
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:793824
    ANK; ANK repeat [structural motif]
  2. XM_006712234.3XP_006712297.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X8

    Conserved Domains (8) summary
    cd04103
    Location:72233
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73239
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:565616
    PH; PH domain
    pfam01412
    Location:640754
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:765855
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:797828
    ANK; ANK repeat [structural motif]
  3. XM_005246059.4XP_005246116.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X11

    See identical proteins and their annotated locations for XP_005246116.1

    UniProtKB/TrEMBL
    X5D293
    Conserved Domains (8) summary
    cd04103
    Location:72233
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:73239
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:351415
    PH; PH domain
    pfam01412
    Location:562676
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:687777
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:719750
    ANK; ANK repeat [structural motif]
  4. XM_011510549.2XP_011508851.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X7

    Related
    ENSP00000386897.1, ENST00000409538.5
    Conserved Domains (8) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:338504
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:616680
    PH; PH domain
    pfam01412
    Location:827941
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:9521042
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:9841015
    ANK; ANK repeat [structural motif]
  5. XM_024452676.1XP_024308444.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X10

    Conserved Domains (2) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd01250
    Location:613687
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
  6. XM_024452679.1XP_024308447.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X13

    Conserved Domains (2) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd01250
    Location:613687
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
  7. XM_024452678.1XP_024308446.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X12

    Conserved Domains (2) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd01250
    Location:613687
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
  8. XM_017003282.1XP_016858771.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X4

  9. XM_006712239.3XP_006712302.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X1

    Conserved Domains (8) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:338504
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:830881
    PH; PH domain
    pfam01412
    Location:9051019
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10301120
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:10621093
    ANK; ANK repeat [structural motif]
  10. XM_011510548.2XP_011508850.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X5

    Conserved Domains (8) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:338504
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:777828
    PH; PH domain
    pfam01412
    Location:852966
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:9771067
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:10091040
    ANK; ANK repeat [structural motif]
  11. XM_006712237.3XP_006712300.2  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X2

    Conserved Domains (8) summary
    cd04103
    Location:337494
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:338500
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:826877
    PH; PH domain
    pfam01412
    Location:9011015
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10261116
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:10581089
    ANK; ANK repeat [structural motif]
  12. XM_011510547.2XP_011508849.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X3

    Conserved Domains (8) summary
    cd04103
    Location:337498
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    smart00173
    Location:338504
    RAS; Ras subfamily of RAS small GTPases
    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
    pfam00169
    Location:616680
    PH; PH domain
    pfam01412
    Location:880994
    ArfGap; Putative GTPase activating protein for Arf
    pfam12796
    Location:10051095
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:10371068
    ANK; ANK repeat [structural motif]
  13. XM_024452672.1XP_024308440.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform X6

    Conserved Domains (5) summary
    cd04103
    Location:337494
    Centaurin_gamma; Centaurin gamma (CENTG) GTPase
    cd00204
    Location:9731062
    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:609829
    PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
    sd00045
    Location:10051036
    ANK; ANK repeat [structural motif]
    pfam01412
    Location:848962
    ArfGap; Putative GTPase activating protein for Arf
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