This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alte... See more...

Aliases for ASAP3 Gene

Aliases for ASAP3 Gene

  • ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 3 2 3 5
  • UPLC1 2 3 4
  • Arf-GAP With SH3 Domain, ANK Repeat And PH Domain-Containing Protein 3 3 4
  • Development And Differentiation Enhancing Factor-Like 1 2 3
  • Protein Up-Regulated In Liver Cancer 1 3 4
  • Centaurin, Beta 6 2 3
  • CENTB6 2 3
  • DDEFL1 3 4
  • ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 3 1 3
  • Development And Differentiation-Enhancing Factor-Like 1 4
  • Up-Regulated In Liver Cancer 1 (UPLC1) 3
  • ARF6 GTPase-Activating Protein 3
  • FLJ20199 2
  • ACAP4 3
  • ASAP3 5

External Ids for ASAP3 Gene

Previous HGNC Symbols for ASAP3 Gene

  • DDEFL1

Previous GeneCards Identifiers for ASAP3 Gene

  • GC01M023628
  • GC01M023755
  • GC01M022006

Summaries for ASAP3 Gene

Entrez Gene Summary for ASAP3 Gene

  • This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GeneCards Summary for ASAP3 Gene

ASAP3 (ArfGAP With SH3 Domain, Ankyrin Repeat And PH Domain 3) is a Protein Coding gene. Among its related pathways are Fc gamma R-mediated phagocytosis and Endocytosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ASAP2.

UniProtKB/Swiss-Prot Summary for ASAP3 Gene

Additional gene information for ASAP3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASAP3 Gene

Genomics for ASAP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASAP3 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
GH01J023482 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 635.3 +0.4 446 3.2 PRDM10 ZNF512 LEF1 IKZF1 KDM1A ZNF7 JUND ZIC2 RBFOX2 ZNF24 ASAP3 ZNF436 ZNF436-AS1 TCEA3 lnc-E2F2-3
GH01J023420 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 43.2 +61.4 61433 5.1 HNRNPL GATAD2A REST TFE3 RCOR2 MTA2 RBFOX2 RXRB IRF2 BRD4 TCEA3 lnc-ASAP3-1 ASAP3 ZNF436-AS1 ENSG00000201405 ZNF436 LINC01355 lnc-ASAP3-2
GH01J023478 Enhancer 1.2 ENCODE dbSUPER 34.8 +5.3 5312 1.2 GATAD2A ZNF629 TFE3 ZNF512 LEF1 IKZF1 RCOR2 JUND FOXA1 GABPA lnc-E2F2-3 ASAP3 lnc-E2F2-2 TCEA3
GH01J023469 Enhancer 1.1 Ensembl ENCODE dbSUPER 33.6 +11.4 11431 7.6 RCOR2 PRDM1 PKNOX1 ZNF24 SP1 PBX2 SCRT2 ZNF184 JUND CEBPB ASAP3 ZNF436-AS1 HNRNPR ZNF436 TCEA3 lnc-E2F2-2 lnc-E2F2-3
GH01J023448 Enhancer 1.1 Ensembl ENCODE dbSUPER 30.8 +33.3 33250 5.2 CEBPG CREB1 FOXA1 ZIC2 CEBPB CTBP1 ZNF444 ESRRA KLF4 ZBTB17 ASAP3 TCEA3 ZNF436-AS1 lnc-E2F2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASAP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASAP3

Genomic Locations for ASAP3 Gene

Genomic Locations for ASAP3 Gene
chr1:23,428,563-23,484,631
(GRCh38/hg38)
Size:
56,069 bases
Orientation:
Minus strand
chr1:23,755,056-23,811,061
(GRCh37/hg19)
Size:
56,006 bases
Orientation:
Minus strand

Genomic View for ASAP3 Gene

Genes around ASAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAP3 Gene

Proteins for ASAP3 Gene

  • Protein details for ASAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDY4-ASAP3_HUMAN
    Recommended name:
    Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3
    Protein Accession:
    Q8TDY4
    Secondary Accessions:
    • B3KRW0
    • B4DHH4
    • Q6P9F4
    • Q86UY1
    • Q9NXK2

    Protein attributes for ASAP3 Gene

    Size:
    903 amino acids
    Molecular mass:
    99155 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ASAP3 Gene

    Alternative splice isoforms for ASAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAP3 Gene

Post-translational modifications for ASAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ASAP3
  • Boster Bio Antibodies for ASAP3

No data available for DME Specific Peptides for ASAP3 Gene

Domains & Families for ASAP3 Gene

Gene Families for ASAP3 Gene

Protein Domains for ASAP3 Gene

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

Suggested Antigen Peptide Sequences for ASAP3 Gene

GenScript: Design optimal peptide antigens:
  • Protein up-regulated in liver cancer 1 (ASAP3_HUMAN)
  • ASAP3 protein (Q6PJ46_HUMAN)
genes like me logo Genes that share domains with ASAP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASAP3 Gene

Function for ASAP3 Gene

Molecular function for ASAP3 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell proliferation.

Phenotypes From GWAS Catalog for ASAP3 Gene

Gene Ontology (GO) - Molecular Function for ASAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 18400762
GO:0005515 protein binding IPI 19380743
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASAP3: view
genes like me logo Genes that share phenotypes with ASAP3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAP3 Gene

Localization for ASAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAP3 Gene

Cytoplasm.

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 ASAP3 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IBA,IDA 18400762
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005925 focal adhesion IEA,IDA 18400762
genes like me logo Genes that share ontologies with ASAP3: view

Pathways & Interactions for ASAP3 Gene

PathCards logo

SuperPathways for ASAP3 Gene

genes like me logo Genes that share pathways with ASAP3: view

Pathways by source for ASAP3 Gene

2 KEGG pathways for ASAP3 Gene

Gene Ontology (GO) - Biological Process for ASAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IEA,IMP 18400762
GO:0043547 positive regulation of GTPase activity IEA,IDA 18400762
GO:0051492 regulation of stress fiber assembly IBA,IMP 18400762
genes like me logo Genes that share ontologies with ASAP3: view

No data available for SIGNOR curated interactions for ASAP3 Gene

Drugs & Compounds for ASAP3 Gene

No Compound Related Data Available

Transcripts for ASAP3 Gene

mRNA/cDNA for ASAP3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAP3

Alternative Splicing Database (ASD) splice patterns (SP) for ASAP3 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1: -
SP2: - - - - - - - - - - - - - - - - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 19b · 19c ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27
SP1: - - - -
SP2: - - - - - - - - - - - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: - - -

Relevant External Links for ASAP3 Gene

GeneLoc Exon Structure for
ASAP3

Expression for ASAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASAP3 Gene

This gene is overexpressed in Placenta (12.8), Urine (7.9), Pancreas (7.6), and Fetal testis (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASAP3 Gene



Protein tissue co-expression partners for ASAP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAP3

SOURCE GeneReport for Unigene cluster for ASAP3 Gene:

Hs.437379

mRNA Expression by UniProt/SwissProt for ASAP3 Gene:

Q8TDY4-ASAP3_HUMAN
Tissue specificity: Highly expressed in primary hepatocarcinoma. Detected in lung, liver and blood leukocytes.

Evidence on tissue expression from TISSUES for ASAP3 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with ASAP3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAP3 Gene

Orthologs for ASAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASAP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASAP3 30
  • 98.9 (n)
Cow
(Bos Taurus)
Mammalia ASAP3 30 31
  • 90.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASAP3 30 31
  • 88.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Asap3 30 17 31
  • 82.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC684122 30
  • 81.84 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 22 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ASAP3 31
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASAP3 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asap3 30
  • 58.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii asap3 31
  • 47 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Asap1 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5006 31
  • 29 (a)
OneToMany
Species where no ortholog for ASAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 ASAP3 Gene

ENSEMBL:
Gene Tree for ASAP3 (if available)
TreeFam:
Gene Tree for ASAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASAP3: view image

Paralogs for ASAP3 Gene

(4) SIMAP similar genes for ASAP3 Gene using alignment to 7 proteins:

  • ASAP3_HUMAN
  • E9PS98_HUMAN
  • H0YE36_HUMAN
  • H0YEB0_HUMAN
  • H0YER8_HUMAN
  • Q6PJ46_HUMAN
  • V9GY49_HUMAN
genes like me logo Genes that share paralogs with ASAP3: view

Variants for ASAP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASAP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711270 Benign: not provided 23,441,104(-) G/A SYNONYMOUS_VARIANT
713031 Likely Benign: not provided 23,431,036(-) G/T MISSENSE_VARIANT
784938 Benign: not provided 23,451,511(-) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
791782 Benign: not provided 23,437,445(-) T/G MISSENSE_VARIANT
VAR_035612 A colorectal cancer sample p.Ala617Thr

Additional dbSNP identifiers (rs#s) for ASAP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASAP3 Gene

Variant ID Type Subtype PubMed ID
esv3326511 CNV duplication 20981092
esv3585483 CNV loss 21293372
nsv1075332 CNV deletion 25765185
nsv1130950 CNV deletion 24896259
nsv819574 CNV gain 19587683
nsv834435 CNV loss 17160897

Variation tolerance for ASAP3 Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAP3 Gene

Disorders for ASAP3 Gene

Additional Disease Information for ASAP3

No disorders were found for ASAP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASAP3 Gene

Publications for ASAP3 Gene

  1. Isolation of development and differentiation enhancing factor-like 1 (DDEFL1) as a drug target for hepatocellular carcinomas. (PMID: 14654939) Okabe H … Nakamura Y (International journal of oncology 2004) 2 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ASAP3 Gene

Sources for ASAP3 Gene