Human Gene ASAP1 (ENST00000518721.6_12) from GENCODE V47lift37
  Description: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1, transcript variant 1 (from RefSeq NM_018482.4)
Gencode Transcript: ENST00000518721.6_12
Gencode Gene: ENSG00000153317.15_15
Transcript (Including UTRs)
   Position: hg19 chr8:131,064,350-131,455,920 Size: 391,571 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg19 chr8:131,066,977-131,414,189 Size: 347,213 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:131,064,350-131,455,920)mRNA (may differ from genome)Protein (1129 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ASAP1_HUMAN
DESCRIPTION: RecName: Full=Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; AltName: Full=130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein; AltName: Full=ADP-ribosylation factor-directed GTPase-activating protein 1; Short=ARF GTPase-activating protein 1; AltName: Full=Development and differentiation-enhancing factor 1; Short=DEF-1; Short=Differentiation-enhancing factor 1; AltName: Full=PIP2-dependent ARF1 GAP;
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.
ENZYME REGULATION: Activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) (By similarity).
SUBUNIT: Homodimer. Interacts with SRC and CRK. Interacts with RAB11FIP3. Interacts with PTK2B/PYK2 (By similarity). Interacts with CTTN. Interacts (via SH3 domain) with APC.
INTERACTION: P46108:CRK; NbExp=2; IntAct=EBI-346622, EBI-886; P06241:FYN; NbExp=2; IntAct=EBI-346622, EBI-515315; P62993:GRB2; NbExp=7; IntAct=EBI-346622, EBI-401755; P16333:NCK1; NbExp=5; IntAct=EBI-346622, EBI-389883; P19174:PLCG1; NbExp=3; IntAct=EBI-346622, EBI-79387; P12931:SRC; NbExp=2; IntAct=EBI-346622, EBI-621482;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Membrane (By similarity). Note=Predominantly cytoplasmic (By similarity). Partially membrane-associated (By similarity).
DOMAIN: The PH domain most probably contributes to the phosphoinositide-dependent regulation of ADP ribosylation factors (By similarity).
PTM: Phosphorylated on tyrosine residues by SRC (By similarity).
SIMILARITY: Contains 2 ANK repeats.
SIMILARITY: Contains 1 Arf-GAP domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.62 RPKM in Cells - Cultured fibroblasts
Total median expression: 434.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -105.60242-0.436 Picture PostScript Text
3' UTR -628.102627-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001164 - ArfGAP
IPR013606 - IRSp53/MIM_homology_IMD
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00023 - Ankyrin repeat
PF00169 - PH domain
PF01412 - Putative GTPase activating protein for Arf
PF03114 - BAR domain
PF07653 - Variant SH3 domain
PF12796 - Ankyrin repeats (3 copies)
PF14604 - Variant SH3 domain
PF16746 - BAR domain of APPL family

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
103657 - BAR/IMD domain-like
50044 - SH3-domain
50729 - PH domain-like
48403 - Ankyrin repeat
57863 - ArfGap/RecO-like zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2D1X - X-ray MuPIT 2DA0 - NMR MuPIT 2ED1 - NMR MuPIT 2RQT - NMR MuPIT 2RQU - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9ULH1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0045296 cadherin binding
GO:0046872 metal ion binding

Biological Process:
GO:0030030 cell projection organization
GO:0043547 positive regulation of GTPase activity
GO:0060271 cilium assembly
GO:0061000 negative regulation of dendritic spine development
GO:0071803 positive regulation of podosome assembly
GO:1903527 positive regulation of membrane tubulation

Cellular Component:
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0031253 cell projection membrane
GO:0043197 dendritic spine


-  Descriptions from all associated GenBank mRNAs
  AB033075 - Homo sapiens mRNA for KIAA1249 protein, partial cds.
BX537768 - Homo sapiens mRNA; cDNA DKFZp781K0428 (from clone DKFZp781K0428).
BC137135 - Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone MGC:168755 IMAGE:9021132), complete cds.
BC144493 - Homo sapiens cDNA clone IMAGE:9053020.
AX721314 - Sequence 274 from Patent WO0220754.
BC070268 - Homo sapiens cDNA clone IMAGE:3997001, partial cds.
BC020631 - Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone IMAGE:4733268), complete cds.
AK056811 - Homo sapiens cDNA FLJ32249 fis, clone PROST1000144.
BC105978 - Homo sapiens cDNA clone IMAGE:4444315.
AF222859 - Homo sapiens uncharacterized gastric protein ZG14P mRNA, complete cds.
AK314695 - Homo sapiens cDNA, FLJ95549.
HQ257918 - Synthetic construct Homo sapiens clone IMAGE:100072227 Unknown protein gene, encodes complete protein.
JD148418 - Sequence 129442 from Patent EP1572962.
DQ591419 - Homo sapiens piRNA piR-58531, complete sequence.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_arapPathway - ADP-Ribosylation Factor

Reactome (by CSHL, EBI, and GO)

Protein Q9ULH1 (Reactome details) participates in the following event(s):

R-HSA-5620918 ASAP1 dimer binds membrane proteins
R-HSA-5620921 ASAP1 recruits RAB11FIP3 and RAB11 to the ciliary targeting complex
R-HSA-5623519 RAB3IP and RAB8A bind to the ciliary targeting complex
R-HSA-5623513 ASAP1 stimulates GTPase activity of ARF4
R-HSA-5623521 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5623524 The exocyst complex binds to RAB3IP in the ciliary targeting complex
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: ASAP1_HUMAN, B2RNV3, DDEF1, ENST00000518721.1, ENST00000518721.2, ENST00000518721.3, ENST00000518721.4, ENST00000518721.5, KIAA1249, NM_018482, PAG2 , Q9ULH1, uc323rgx.1, uc323rgx.2
UCSC ID: ENST00000518721.6_12
RefSeq Accession: NM_018482.4
Protein: Q9ULH1 (aka ASAP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.