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Aliases for ASAP1 Gene

Aliases for ASAP1 Gene

  • ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1 2 3 5
  • 130 KDa Phosphatidylinositol 4,5-Bisphosphate-Dependent ARF1 GTPase-Activating Protein 3 4
  • ADP-Ribosylation Factor-Directed GTPase-Activating Protein 1 3 4
  • Development And Differentiation-Enhancing Factor 1 3 4
  • ARF GTPase-Activating Protein 1 3 4
  • PIP2-Dependent ARF1 GAP 3 4
  • DDEF1 3 4
  • DEF-1 3 4
  • 130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1 GTPase-Activating Protein 3
  • Development And Differentiation Enhancing Factor 1 2
  • Differentiation-Enhancing Factor 1 4
  • Centaurin, Beta 4 3
  • Centaurin 2
  • KIAA1249 4
  • Beta 4 2
  • CENTB4 3
  • AMAP1 3
  • ZG14P 3
  • PAG2 3
  • PAP 3

External Ids for ASAP1 Gene

Previous HGNC Symbols for ASAP1 Gene

  • DDEF1

Previous GeneCards Identifiers for ASAP1 Gene

  • GC08M131134
  • GC08M126385
  • GC08M131064

Summaries for ASAP1 Gene

Entrez Gene Summary for ASAP1 Gene

  • 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]

GeneCards Summary for ASAP1 Gene

ASAP1 (ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 1) is a Protein Coding gene. Among its related pathways are EGFR1 Signaling Pathway and Integrin Pathway. GO annotations related to this gene include GTPase activator activity and phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is ASAP3.

UniProtKB/Swiss-Prot for ASAP1 Gene

  • Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis.

Gene Wiki entry for ASAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAP1 Gene

Genomics for ASAP1 Gene

Regulatory Elements for ASAP1 Gene

Promoters for ASAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASAP1 Gene

Chromosome:
8
Start:
130,052,104 bp from pter
End:
130,443,660 bp from pter
Size:
391,557 bases
Orientation:
Minus strand

Genomic View for ASAP1 Gene

Genes around ASAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAP1 Gene

Proteins for ASAP1 Gene

  • Protein details for ASAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULH1-ASAP1_HUMAN
    Recommended name:
    Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1
    Protein Accession:
    Q9ULH1
    Secondary Accessions:
    • B2RNV3

    Protein attributes for ASAP1 Gene

    Size:
    1129 amino acids
    Molecular mass:
    125498 Da
    Quaternary structure:
    • Homodimer. Interacts with SRC and CRK. Interacts with RAB11FIP3. Interacts with PTK2B/PYK2 (By similarity). Interacts with CTTN. Interacts (via SH3 domain) with APC.

    Three dimensional structures from OCA and Proteopedia for ASAP1 Gene

    Alternative splice isoforms for ASAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAP1 Gene

Proteomics data for ASAP1 Gene at MOPED

Post-translational modifications for ASAP1 Gene

No data available for DME Specific Peptides for ASAP1 Gene

Domains & Families for ASAP1 Gene

Suggested Antigen Peptide Sequences for ASAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULH1

UniProtKB/Swiss-Prot:

ASAP1_HUMAN :
  • The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation factors.
  • Contains 2 ANK repeats.
Domain:
  • The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation factors.
  • Contains 1 Arf-GAP domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
Similarity:
  • Contains 2 ANK repeats.
genes like me logo Genes that share domains with ASAP1: view

Function for ASAP1 Gene

Molecular function for ASAP1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2).
UniProtKB/Swiss-Prot Function:
Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis.

Gene Ontology (GO) - Molecular Function for ASAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA,IPI 12029088
genes like me logo Genes that share ontologies with ASAP1: view
genes like me logo Genes that share phenotypes with ASAP1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAP1 Gene

Localization for ASAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAP1 Gene

Cytoplasm. Membrane. Note=Predominantly cytoplasmic. Partially membrane-associated. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASAP1 Gene COMPARTMENTS Subcellular localization image for ASAP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 3
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ASAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ASAP1: view

Pathways & Interactions for ASAP1 Gene

genes like me logo Genes that share pathways with ASAP1: view

Gene Ontology (GO) - Biological Process for ASAP1 Gene

None

No data available for SIGNOR curated interactions for ASAP1 Gene

Drugs & Compounds for ASAP1 Gene

(1) Drugs for ASAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(380) Additional Compounds for ASAP1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1w7)
PI(16:0/16:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoic acid
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phosphoinositol
PI(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
  • PI(16:0/18:0)
genes like me logo Genes that share compounds with ASAP1: view

Transcripts for ASAP1 Gene

Unigene Clusters for ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -

ExUns: 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30
SP1: -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for ASAP1 Gene

GeneLoc Exon Structure for
ASAP1
ECgene alternative splicing isoforms for
ASAP1

Expression for ASAP1 Gene

mRNA expression in normal human tissues for ASAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.1), Lavage (11.6), and Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASAP1 Gene



SOURCE GeneReport for Unigene cluster for ASAP1 Gene Hs.655552

genes like me logo Genes that share expression patterns with ASAP1: view

Protein tissue co-expression partners for ASAP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ASAP1 Gene

Orthologs for ASAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ASAP1 35
  • 89.7 (n)
  • 96.75 (a)
ASAP1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASAP1 35
  • 93.11 (n)
  • 97.12 (a)
ASAP1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asap1 35
  • 90.42 (n)
  • 96.32 (a)
Asap1 16
Asap1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASAP1 35
  • 99.7 (n)
  • 99.82 (a)
ASAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asap1 35
  • 90.51 (n)
  • 96.41 (a)
oppossum
(Monodelphis domestica)
Mammalia ASAP1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASAP1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASAP1 35
  • 82.17 (n)
  • 91.69 (a)
ASAP1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASAP1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asap1 35
  • 73.69 (n)
  • 80.46 (a)
zebrafish
(Danio rerio)
Actinopterygii asap1b 35
  • 70.13 (n)
  • 79.4 (a)
ASAP1 (1 of 3) 36
  • 54 (a)
OneToMany
asap1a 36
  • 76 (a)
OneToMany
asap1b 36
  • 77 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007726 35
  • 55.36 (n)
  • 53.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta Asap1 35
  • 53.23 (n)
  • 51.48 (a)
Asap1 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5006 36
  • 43 (a)
OneToMany
Species with no ortholog for ASAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASAP1 Gene

ENSEMBL:
Gene Tree for ASAP1 (if available)
TreeFam:
Gene Tree for ASAP1 (if available)

Paralogs for ASAP1 Gene

genes like me logo Genes that share paralogs with ASAP1: view

Variants for ASAP1 Gene

Sequence variations from dbSNP and Humsavar for ASAP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs966185 - 130,112,313(-) GCCCT(A/G)TCAAG reference, missense
rs929990 -- 130,264,814(+) GATCA(C/T)TATGT intron-variant
rs876575 -- 130,198,605(+) CTAAC(A/G)TATAT intron-variant
rs749126 -- 130,091,180(-) ACCAC(A/G)CCTGG intron-variant
rs752716 -- 130,079,169(+) cagtc(C/T)gggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASAP1 Gene

Variant ID Type Subtype PubMed ID
nsv524349 CNV Gain 19592680
nsv465808 CNV Loss 19166990
nsv465810 CNV Gain 19166990
esv2737580 CNV Deletion 23290073
nsv831461 CNV Gain 17160897
nsv507493 CNV Insertion 20534489
esv26723 CNV Loss 19812545

Variation tolerance for ASAP1 Gene

Residual Variation Intolerance Score: 3.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASAP1 Gene

HapMap Linkage Disequilibrium report
ASAP1
Human Gene Mutation Database (HGMD)
ASAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAP1 Gene

Disorders for ASAP1 Gene

Relevant External Links for ASAP1

Genetic Association Database (GAD)
ASAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASAP1

No disorders were found for ASAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASAP1 Gene

Publications for ASAP1 Gene

  1. ASAP1, a phospholipid-dependent arf GTPase-activating protein that associates with and is phosphorylated by Src. (PMID: 9819391) Brown M.T. … Randazzo P.A. (Mol. Cell. Biol. 1998) 2 3 4 23 67
  2. Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. (PMID: 25774636) Curtis J. … Nejentsev S. (Nat. Genet. 2015) 2 3
  3. ASAP1 promotes tumor cell motility and invasiveness, stimulates metastasis formation in vivo, and correlates with poor survival in colorectal cancer patients. (PMID: 20154719) MA1ller T. … Sleeman J.P. (Oncogene 2010) 3 23
  4. Autoinhibition of Arf GTPase-activating protein activity by the BAR domain in ASAP1. (PMID: 19017632) Jian X. … Randazzo P.A. (J. Biol. Chem. 2009) 3 23
  5. ASAP3 is a focal adhesion-associated Arf GAP that functions in cell migration and invasion. (PMID: 18400762) Ha V.L. … Randazzo P.A. (J. Biol. Chem. 2008) 3 23

Products for ASAP1 Gene

Sources for ASAP1 Gene

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