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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
  • Centaurin, Beta 4 2 3
  • DDEF1 3 4
  • DEF-1 3 4
  • 130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1 GTPase-Activating Protein 3
  • Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 1 3
  • Development And Differentiation Enhancing Factor 1 2
  • Differentiation-Enhancing Factor 1 4
  • KIAA1249 4
  • 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 Organelle biogenesis and maintenance and EGFR1 Signaling 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 ASAP2.

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

Enhancers for ASAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F130406 1.1 ENCODE 22.8 +36.0 35957 1.7 PKNOX1 JUN SETDB1 ASAP1 PIR52530 GC08P130420
GH08F130198 1.2 Ensembl ENCODE 22.3 +242.7 242660 5.2 IRF2 MAFG MAFF ZNF316 IRF1 ZNF24 MAFK EMSY SPI1 ASAP1 ENSG00000212342 GC08M130220
GH08F130205 0.9 FANTOM5 Ensembl ENCODE 22.2 +236.7 236660 3.2 CTCF CEBPG ZIC2 RAD21 SMC3 MIXL1 GATAD2A ZNF654 HLF CEBPB ASAP1 ENSG00000212342 FAM49B GC08M130220
GH08F130395 0.6 Ensembl ENCODE 21.6 +46.7 46699 2.2 SMARCA4 POLR2A REST NR2F2 ASAP1 FAM49B PIR52530 ASAP1-IT1
GH08F130258 1.6 FANTOM5 Ensembl ENCODE 21.6 +179.5 179539 12.2 ELF3 PKNOX1 SIN3A RAD21 FOS CEBPB JUNB NR2F2 RAD51 SMARCA4 ASAP1 FAM49B GC08M130220 ASAP1-IT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ASAP1 on UCSC Golden Path with GeneCards custom track

Promoters for ASAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001402254 560 2201 ARID4B SIN3A FEZF1 ZNF48 GLIS2 SP3 MXD4 REST SREBF1 MAFF

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

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:0001786 phosphatidylserine binding IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 12029088
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA --
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IEA --
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

Inhibitory RNA Products

Flow Cytometry 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:0002102 podosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005913 cell-cell adherens junction IDA 25468996
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0060271 cilium assembly IMP 20393563
GO:0061000 negative regulation of dendritic spine development IEA --
GO:0071803 positive regulation of podosome assembly IEA --
genes like me logo Genes that share ontologies with ASAP1: view

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:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for ASAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASAP1 Gene:

ASAP1

SOURCE GeneReport for Unigene cluster for ASAP1 Gene:

Hs.655552
genes like me logo Genes that share expression patterns with ASAP1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ASAP1 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia ASAP1 34 35
  • 93.11 (n)
oppossum
(Monodelphis domestica)
Mammalia ASAP1 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASAP1 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asap1 34
  • 90.51 (n)
mouse
(Mus musculus)
Mammalia Asap1 34 16 35
  • 90.42 (n)
cow
(Bos Taurus)
Mammalia ASAP1 34 35
  • 89.7 (n)
chicken
(Gallus gallus)
Aves ASAP1 34 35
  • 82.17 (n)
lizard
(Anolis carolinensis)
Reptilia ASAP1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asap1 34
  • 73.69 (n)
zebrafish
(Danio rerio)
Actinopterygii asap1a 35
  • 76 (a)
OneToMany
asap1b 34 35
  • 70.13 (n)
ASAP1 (1 of 3) 35
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007726 34
  • 55.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta Asap1 34 35
  • 53.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5006 35
  • 43 (a)
OneToMany
Species where no ortholog for ASAP1 was found in the sources mined by GeneCards:
  • 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
rs10085959 -- 130,194,710(+) tccct(C/T)acatt intron-variant
rs10086454 -- 130,399,003(+) cttct(C/T)tgccg intron-variant
rs10086773 -- 130,408,442(+) ggaca(C/T)tggcg intron-variant
rs10087287 -- 130,395,708(+) gtcac(A/C)caggc intron-variant
rs10087626 -- 130,395,908(+) taatc(C/T)gcccg intron-variant

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

Variant ID Type Subtype PubMed ID
dgv12331n54 CNV loss 21841781
dgv12332n54 CNV gain+loss 21841781
esv2561115 CNV insertion 19546169
esv26723 CNV loss 19812545
esv2737580 CNV deletion 23290073
esv3324025 CNV duplication 20981092
esv3544205 CNV deletion 23714750
esv3576608 CNV gain 25503493
esv3618824 CNV loss 21293372
nsv1016494 CNV gain 25217958
nsv1018045 CNV gain 25217958
nsv1077069 CNV deletion 25765185
nsv1122201 CNV deletion 24896259
nsv1126861 CNV deletion 24896259
nsv1145200 CNV deletion 24896259
nsv465808 CNV loss 19166990
nsv465810 CNV gain 19166990
nsv472388 CNV novel sequence insertion 20440878
nsv507493 OTHER sequence alteration 20534489
nsv524349 CNV gain 19592680
nsv612231 CNV gain 21841781
nsv612232 CNV loss 21841781
nsv612234 CNV gain 21841781
nsv612259 CNV gain 21841781
nsv612285 CNV loss 21841781
nsv612289 CNV loss 21841781
nsv612290 CNV loss 21841781
nsv831461 CNV gain 17160897
nsv949983 CNV duplication 24416366

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

Human Gene Mutation Database (HGMD)
ASAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. Targeting AMAP1 and cortactin binding bearing an atypical src homology 3/proline interface for prevention of breast cancer invasion and metastasis. (PMID: 16636290) Hashimoto S. … Sabe H. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 22 64
  3. 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 64
  4. Functional genomic screen for modulators of ciliogenesis and cilium length. (PMID: 20393563) Kim J. … Gleeson J.G. (Nature 2010) 3 4 64
  5. 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 22 64

Products for ASAP1 Gene

Sources for ASAP1 Gene

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