Human Gene ARAP1 (ENST00000393609.8_13) from GENCODE V47lift37
  Description: ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1, transcript variant 3 (from RefSeq NM_001040118.3)
Gencode Transcript: ENST00000393609.8_13
Gencode Gene: ENSG00000186635.16_19
Transcript (Including UTRs)
   Position: hg19 chr11:72,396,114-72,463,453 Size: 67,340 Total Exon Count: 35 Strand: -
Coding Region
   Position: hg19 chr11:72,396,709-72,438,173 Size: 41,465 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:72,396,114-72,463,453)mRNA (may differ from genome)Protein (1450 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARAP1_HUMAN
DESCRIPTION: RecName: Full=Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1; AltName: Full=Centaurin-delta-2; Short=Cnt-d2;
FUNCTION: Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity).
SUBUNIT: Interacts with TNFRSF10A.
INTERACTION: O00220:TNFRSF10A; NbExp=4; IntAct=EBI-710003, EBI-518861; P12956:XRCC6; NbExp=2; IntAct=EBI-710003, EBI-353208;
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell membrane. Note=Associated with Golgi stacks in resting cells. Throughout the cytoplasm and in surface protrusion in cells that are in the process of attaching to a surface and spreading.
TISSUE SPECIFICITY: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea.
SIMILARITY: Contains 1 Arf-GAP domain.
SIMILARITY: Contains 4 PH domains.
SIMILARITY: Contains 1 Ras-associating domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.
SEQUENCE CAUTION: Sequence=BAA34502.2; Type=Erroneous initiation; Sequence=BAD92710.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ARAP1
Diseases sorted by gene-association score: kidney hypertrophy (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 66.56 RPKM in Whole Blood
Total median expression: 872.53 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 -88.40208-0.425 Picture PostScript Text
3' UTR -257.70595-0.433 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
IPR001164 - ArfGAP
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000159 - Ras-assoc
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1

Pfam Domains:
PF00169 - PH domain
PF00536 - SAM domain (Sterile alpha motif)
PF00620 - RhoGAP domain
PF00788 - Ras association (RalGDS/AF-6) domain
PF01412 - Putative GTPase activating protein for Arf
PF07647 - SAM domain (Sterile alpha motif)

SCOP Domains:
48350 - GTPase activation domain, GAP
47769 - SAM/Pointed domain
50729 - PH domain-like
54236 - Ubiquitin-like
48403 - Ankyrin repeat
57863 - ArfGap/RecO-like zinc finger

ModBase Predicted Comparative 3D Structure on Q96P48
FrontTopSide
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    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0031702 type 1 angiotensin receptor binding
GO:0046872 metal ion binding

Biological Process:
GO:0001921 positive regulation of receptor recycling
GO:0007165 signal transduction
GO:0008360 regulation of cell shape
GO:0030037 actin filament reorganization involved in cell cycle
GO:0043547 positive regulation of GTPase activity
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051270 regulation of cellular component movement
GO:0051491 positive regulation of filopodium assembly
GO:0051497 negative regulation of stress fiber assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0032580 Golgi cisterna membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AB209473 - Homo sapiens mRNA for centaurin delta 2 isoform a variant protein.
BC008315 - Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone IMAGE:3161752), partial cds.
BC056401 - Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone IMAGE:5742453), complete cds.
AK160383 - Homo sapiens mRNA for FLJ00357 protein.
BC021244 - Homo sapiens centaurin, delta 2, mRNA (cDNA clone IMAGE:4300162), partial cds.
AY049732 - Homo sapiens ARAP1 mRNA, complete cds.
AB018325 - Homo sapiens KIAA0782 mRNA for KIAA0782 protein.
AY553630 - Homo sapiens ARAP1b protein mRNA, complete cds.
JD518778 - Sequence 499802 from Patent EP1572962.
JD326418 - Sequence 307442 from Patent EP1572962.
JD038616 - Sequence 19640 from Patent EP1572962.
JD415104 - Sequence 396128 from Patent EP1572962.
JD397179 - Sequence 378203 from Patent EP1572962.
JD464676 - Sequence 445700 from Patent EP1572962.
JD475878 - Sequence 456902 from Patent EP1572962.
JD064494 - Sequence 45518 from Patent EP1572962.
JD283104 - Sequence 264128 from Patent EP1572962.
JD020593 - Sequence 1617 from Patent EP1572962.
JD329563 - Sequence 310587 from Patent EP1572962.
JD549659 - Sequence 530683 from Patent EP1572962.
JD028139 - Sequence 9163 from Patent EP1572962.
JD471696 - Sequence 452720 from Patent EP1572962.
JD218927 - Sequence 199951 from Patent EP1572962.
JD125268 - Sequence 106292 from Patent EP1572962.
JD049361 - Sequence 30385 from Patent EP1572962.
JD054292 - Sequence 35316 from Patent EP1572962.
JD485818 - Sequence 466842 from Patent EP1572962.
BC140792 - Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone MGC:176469 IMAGE:9021660), complete cds.
BC144562 - Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1, mRNA (cDNA clone MGC:178107 IMAGE:9053090), complete cds.
AF411983 - Homo sapiens centaurin delta2 mRNA, complete cds.
AJ621557 - Homo sapiens mRNA for ARAP1 (CENTD2 gene).
AB383990 - Synthetic construct DNA, clone: pF1KSDA0782, Homo sapiens CENTD2 gene for centaurin-delta 2, complete cds, without stop codon, in Flexi system.
KJ900045 - Synthetic construct Homo sapiens clone ccsbBroadEn_09439 ARAP1 gene, encodes complete protein.
DL492018 - Novel nucleic acids.
DL490570 - Novel nucleic acids.
JD056922 - Sequence 37946 from Patent EP1572962.
JD139424 - Sequence 120448 from Patent EP1572962.
JD415819 - Sequence 396843 from Patent EP1572962.
JD476918 - Sequence 457942 from Patent EP1572962.
JD390505 - Sequence 371529 from Patent EP1572962.
JD086025 - Sequence 67049 from Patent EP1572962.
JD206108 - Sequence 187132 from Patent EP1572962.
JD076073 - Sequence 57097 from Patent EP1572962.
JD370658 - Sequence 351682 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q96P48 (Reactome details) participates in the following event(s):

R-HSA-8848864 PTK6 binds ARAP1
R-HSA-8848873 PTK6 phosphorylates ARAP1
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-8849469 PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
R-HSA-8848021 Signaling by PTK6
R-HSA-194840 Rho GTPase cycle
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A3KLL7, ARAP1_HUMAN, B2RTS2, CENTD2, ENST00000393609.1, ENST00000393609.2, ENST00000393609.3, ENST00000393609.4, ENST00000393609.5, ENST00000393609.6, ENST00000393609.7, KIAA0782, NM_001040118, O94879, Q4LDD5, Q59FI7, Q6PHS3, Q8WU51, Q96HP6, Q96L71, Q96P48, uc318vzt.1, uc318vzt.2
UCSC ID: ENST00000393609.8_13
RefSeq Accession: NM_001040118.3
Protein: Q96P48 (aka ARAP1_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.