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ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [ Homo sapiens (human) ]

Gene ID: 50807, updated on 26-May-2016
Official Symbol
ASAP1provided by HGNC
Official Full Name
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1provided by HGNC
Primary source
HGNC:HGNC:2720
See related
Ensembl:ENSG00000153317 HPRD:05809; MIM:605953; Vega:OTTHUMG00000164772
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
PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4
Summary
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]
Orthologs
Location:
8q24.1-q24.2
Exon count:
36
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (130052104..130443660, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (131064350..131455906, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L15 pseudogene 12 Neighboring gene family with sequence similarity 49 member B Neighboring gene microRNA 5194 Neighboring gene ASAP1 intronic transcript 2 Neighboring gene uncharacterized LOC105375757 Neighboring gene ASAP1 intronic transcript 1 Neighboring gene uncharacterized LOC105375758 Neighboring gene uncharacterized LOC105375762 Neighboring gene adenylate cyclase 8 (brain)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
NHGRI GWA Catalog
  • Arf1 pathway, organism-specific biosystem (from Pathway Interaction Database)
    Arf1 pathway, organism-specific biosystem
    Arf1 pathway
  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
  • 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...
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by focal adhesion kinase, organism-specific biosystem
    Signaling events mediated by focal adhesion kinase
  • VxPx cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    VxPx cargo-targeting to cilium, organism-specific biosystemA number of membrane proteins destined for the ciliary membrane are recognized by ARF4 in the trans-Golgi network, initiating the formation of a ciliary targeting complex that directs the passage of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-4,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1
Names
130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein
130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein
ADP-ribosylation factor-directed GTPase-activating protein 1
ARF GTPase-activating protein 1
DEF-1
PIP2-dependent ARF1 GAP
centaurin, beta 4
development and differentiation-enhancing factor 1

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_030354.1 RefSeqGene

    Range
    5001..396557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001247996.1NP_001234925.1  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001234925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional exon (with an in-frame AUG) in the 5' region compared to variant 1. This results in translation initiation from an alternate start site, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB033075, AI494058, BC144493, DA319233
    Consensus CDS
    CCDS75788.1
    UniProtKB/Swiss-Prot
    Q9ULH1
    UniProtKB/TrEMBL
    A0A0A0MRE5
    Related
    ENSP00000350297, ENST00000357668
    Conserved Domains (6) summary
    cd07641
    Location:47261
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10641120
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:594682
    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 ...
    pfam01412
    Location:432548
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:596650
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:309415
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  2. NM_018482.3NP_060952.2  arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060952.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AB033075, AI494058, BC137135, DA319233
    Consensus CDS
    CCDS6362.1
    UniProtKB/Swiss-Prot
    Q9ULH1
    Related
    ENSP00000429900, OTTHUMP00000227440, ENST00000518721, OTTHUMT00000380170
    Conserved Domains (6) summary
    cd07641
    Location:54268
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10711127
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:601689
    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 ...
    pfam01412
    Location:439555
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:603657
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:316422
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain

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_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    130052104..130443660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716566.1XP_006716629.1  

    Conserved Domains (6) summary
    cd07641
    Location:54268
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10171073
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:604692
    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 ...
    pfam01412
    Location:442558
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:606660
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:319425
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  2. XM_005250925.1XP_005250982.1  

    See identical proteins and their annotated locations for XP_005250982.1

    UniProtKB/Swiss-Prot
    Q9ULH1
    Conserved Domains (6) summary
    cd07641
    Location:54268
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10741130
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    COG0666
    Location:497714
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:604692
    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 ...
    pfam01412
    Location:442558
    ArfGap; Putative GTPase activating protein for Arf
    cd13251
    Location:319425
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  3. XM_006716564.1XP_006716627.1  

    See identical proteins and their annotated locations for XP_006716627.1

    Conserved Domains (6) summary
    cd07641
    Location:47261
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10671123
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:597685
    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 ...
    pfam01412
    Location:435551
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:599653
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:312418
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  4. XM_006716563.2XP_006716626.1  

    See identical proteins and their annotated locations for XP_006716626.1

    UniProtKB/Swiss-Prot
    Q9ULH1
    Conserved Domains (6) summary
    cd07641
    Location:54268
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10741130
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    COG0666
    Location:497714
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:604692
    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 ...
    pfam01412
    Location:442558
    ArfGap; Putative GTPase activating protein for Arf
    cd13251
    Location:319425
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  5. XM_011517052.1XP_011515354.1  

    See identical proteins and their annotated locations for XP_011515354.1

    UniProtKB/Swiss-Prot
    Q9ULH1
    Conserved Domains (6) summary
    cd07641
    Location:54268
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10741130
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    COG0666
    Location:497714
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:604692
    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 ...
    pfam01412
    Location:442558
    ArfGap; Putative GTPase activating protein for Arf
    cd13251
    Location:319425
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  6. XM_006716567.2XP_006716630.1  

    Related
    ENSP00000429391, OTTHUMP00000227438, ENST00000524124, OTTHUMT00000380168
    Conserved Domains (6) summary
    cd11965
    Location:10151071
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:545633
    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 ...
    pfam01412
    Location:383499
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:547601
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:260366
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
    cl12013
    Location:1209
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  7. XM_011517053.1XP_011515355.1  

    See identical proteins and their annotated locations for XP_011515355.1

    Conserved Domains (6) summary
    cd07641
    Location:47261
    BAR_ASAP1; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with SH3 domain, ANK repeat and PH domain containing protein 1
    cd11965
    Location:10671123
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:597685
    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 ...
    pfam01412
    Location:435551
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:599653
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:312418
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
  8. XM_006716565.2XP_006716628.1  

    Conserved Domains (6) summary
    cd11965
    Location:10181074
    SH3_ASAP1; Src homology 3 domain of ArfGAP with SH3 domain, ankyrin repeat and PH domain containing protein 1
    cd00204
    Location:548636
    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 ...
    pfam01412
    Location:386502
    ArfGap; Putative GTPase activating protein for Arf
    pfam13637
    Location:550604
    Ank_4; Ankyrin repeats (many copies)
    cd13251
    Location:263369
    PH_ASAP; ArfGAP with SH3 domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain
    cl12013
    Location:1212
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    131103607..131496464 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)