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 differe... See more...

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
  • Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 1 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
  • KIAA1249 2 4
  • CENTB4 2 3
  • DDEF1 3 4
  • ZG14P 2 3
  • DEF-1 3 4
  • PAP 2 3
  • 130 KDa Phosphatidylinositol 4,5-Biphosphate-Dependent ARF1 GTPase-Activating Protein 3
  • Development And Differentiation Enhancing Factor 1 2
  • Differentiation-Enhancing Factor 1 4
  • AMAP1 3
  • ASAP1 5
  • PAG2 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. Diseases associated with ASAP1 include Laryngeal Benign Neoplasm and Melanoma, Uveal. Among its related pathways are Signaling events mediated by focal adhesion kinase and Fc gamma R-mediated phagocytosis. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASAP1 Gene

Genomics for ASAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J130440 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 256.9 +0.6 610 5 JUND POLR2A ZIC2 MXD4 BCL11A CEBPB CHD2 FEZF1 MAX KMT2B ASAP1 HSALNG0068621 lnc-ASAP1-1 HSALNG0068620 CYRIB
GH08J130180 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 267.4 +260.7 260721 4.7 ZNF316 MAFK PRDM4 IKZF1 BCL6B IKZF2 ZNF512 RELB ASAP1 ENSG00000212342 HE856103 lnc-FAM49B-1 HSALNG0068612 CYRIB lnc-ASAP1-1
GH08J130401 Promoter/Enhancer 0.5 EPDnew Ensembl 267.6 +41.7 41665 0.4 ASAP1 piR-58531 HSALNG0068618 lnc-ASAP1-1 CYRIB
GH08J130140 Enhancer 1 Ensembl ENCODE dbSUPER 21.1 +300.7 300689 5.3 ZNF316 JUND MAFK MAFG BHLHE40 ZNF217 ARID3A IKZF1 POLR2A SPI1 ASAP1 RNU7-181P CYRIB lnc-FAM49B-5 lnc-FAM49B-4 HSALNG0068612 lnc-FAM49B-1
GH08J130407 Enhancer 0.9 Ensembl ENCODE dbSUPER 22.8 +34.1 34147 7.8 SPI1 BATF JUNB ZNF217 CREB1 HLF PKNOX1 ATF3 ATF2 ASAP1 HSALNG0068618 piR-58531 lnc-ASAP1-1 CYRIB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASAP1

Top Transcription factor binding sites by QIAGEN in the ASAP1 gene promoter:
  • Arnt
  • FOXJ2
  • FOXJ2 (long isoform)
  • HTF
  • IRF-7A
  • LUN-1
  • POU2F1
  • POU2F1a
  • Roaz
  • STAT5A

Genomic Locations for ASAP1 Gene

Latest Assembly
chr8:130,052,104-130,443,848
(GRCh38/hg38)
Size:
391,745 bases
Orientation:
Minus strand

Previous Assembly
chr8:131,064,350-131,455,920
(GRCh37/hg19 by Entrez Gene)
Size:
391,571 bases
Orientation:
Minus strand

chr8:131,064,353-131,455,906
(GRCh37/hg19 by Ensembl)
Size:
391,554 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

Antibodies for research

  • Boster Bio Antibodies for ASAP1

No data available for DME Specific Peptides for ASAP1 Gene

Domains & Families for ASAP1 Gene

Gene Families for ASAP1 Gene

Protein Domains for ASAP1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • SH3 domain signature
  • Pleckstrin-like
  • HIV Rev interacting protein signature

Suggested Antigen Peptide Sequences for ASAP1 Gene

GenScript: Design optimal peptide antigens:
  • PIP2-dependent ARF1 GAP (ASAP1_HUMAN)
  • Development and differentiation enhancing factor 1, isoform CRA_a (B2RNV3_HUMAN)
  • ASAP1 protein (Q8WWA4_HUMAN)

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.
Domain:
  • The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation factors.
genes like me logo Genes that share domains with ASAP1: view

Function for ASAP1 Gene

Molecular function for ASAP1 Gene

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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2).

Phenotypes From GWAS Catalog for ASAP1 Gene

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,IBA 21873635
GO:0005515 protein binding IEA,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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAP1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASAP1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 3
extracellular 2
endosome 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0031253 cell projection membrane IBA 21873635
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

Pathways by source for ASAP1 Gene

SIGNOR curated interactions for ASAP1 Gene

Is inactivated by:

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 IBA,IMP 20393563
GO:0061000 negative regulation of dendritic spine development IEA --
GO:0071803 positive regulation of podosome assembly IBA 21873635
genes like me logo Genes that share ontologies with ASAP1: view

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
  • Phosphatidylinositol-3,4,5-trisphosphoric acid
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 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(32:0)
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-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phospho-D-myo-inositol
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
182509-29-1
genes like me logo Genes that share compounds with ASAP1: view

Transcripts for ASAP1 Gene

mRNA/cDNA for ASAP1 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAP1

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

Expression for ASAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ASAP1 Gene



Protein tissue co-expression partners for ASAP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAP1

SOURCE GeneReport for Unigene cluster for ASAP1 Gene:

Hs.655552

Evidence on tissue expression from TISSUES for ASAP1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Blood(4.5)
  • Bone marrow(4.3)
  • Skin(3.7)
  • Lung(3.6)
  • Spleen(2.5)
  • Kidney(2.3)
  • Heart(2.3)
  • Eye(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with ASAP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASAP1 29 30
  • 93.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASAP1 30
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASAP1 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asap1 29
  • 90.51 (n)
Mouse
(Mus musculus)
Mammalia Asap1 29 16 30
  • 90.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASAP1 29 30
  • 89.7 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ASAP1 29 30
  • 82.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASAP1 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asap1 29
  • 73.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii asap1a 30
  • 76 (a)
OneToMany
asap1b 29 30
  • 70.13 (n)
OneToMany
ASAP1 (1 of 3) 30
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007726 29
  • 55.36 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Asap1 29 30
  • 53.23 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5006 30
  • 43 (a)
OneToMany
Species where no ortholog for ASAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ASAP1: view image
Alliance of Genome Resources:
Additional Orthologs for ASAP1

Paralogs for ASAP1 Gene

(11) SIMAP similar genes for ASAP1 Gene using alignment to 9 proteins:

  • ASAP1_HUMAN
  • E5RFD9_HUMAN
  • E5RHA9_HUMAN
  • E5RHD7_HUMAN
  • H0YBF7_HUMAN
  • H0YBM4_HUMAN
  • H0YBY9_HUMAN
  • L8E8W2_HUMAN
  • Q8WWA4_HUMAN
genes like me logo Genes that share paralogs with ASAP1: view

Variants for ASAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASAP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs113163415 Benign: not provided 130,169,025(-) C/T
NM_018482.4(ASAP1):c.789G>A (p.Gln263=)
SYNONYMOUS
rs199770520 Benign: not provided 130,134,351(-) T/TA
NM_018482.4(ASAP1):c.1169-16dup
INTRON
rs966185 -- p.Ile728Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ASAP1 Gene

Human Gene Mutation Database (HGMD)
ASAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAP1
Leiden Open Variation Database (LOVD)
ASAP1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASAP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ASAP1 Gene - From: COP

Disorder Aliases PubMed IDs
laryngeal benign neoplasm
  • laryngeal tumor
melanoma, uveal
  • uveal melanoma
ciliary dyskinesia, primary, 1
  • cild1
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search ASAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASAP1

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

No data available for 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 MT … Randazzo PA (Molecular and cellular biology 1998) 2 3 4 22
  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 (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  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 (Nature genetics 2015) 2 3
  4. Functional genomic screen for modulators of ciliogenesis and cilium length. (PMID: 20393563) Kim J … Gleeson JG (Nature 2010) 3 4
  5. ASAP1 promotes tumor cell motility and invasiveness, stimulates metastasis formation in vivo, and correlates with poor survival in colorectal cancer patients. (PMID: 20154719) Müller T … Sleeman JP (Oncogene 2010) 3 22

Products for ASAP1 Gene

Sources for ASAP1 Gene