Human Gene ARAP1 (ENST00000393609.8) from GENCODE V44
  Description: Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. (from RefSeq NM_001040118)
RefSeq Summary (NM_001040118): The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008].
Gencode Transcript: ENST00000393609.8
Gencode Gene: ENSG00000186635.16
Transcript (Including UTRs)
   Position: hg38 chr11:72,685,069-72,752,408 Size: 67,340 Total Exon Count: 35 Strand: -
Coding Region
   Position: hg38 chr11:72,685,664-72,727,128 Size: 41,465 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:72,685,069-72,752,408)mRNA (may differ from genome)Protein (1450 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid 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
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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

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

ModBase Predicted Comparative 3D Structure on Q96P48
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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
  AY553630 - Homo sapiens ARAP1b protein mRNA, complete cds.
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.
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, uc001osu.1, uc001osu.2, uc001osu.3, uc001osu.4, uc001osu.5
UCSC ID: ENST00000393609.8
RefSeq Accession: NM_001040118
Protein: Q96P48 (aka ARAP1_HUMAN)

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