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ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 [ Homo sapiens (human) ]

Gene ID: 116985, updated on 2-Oct-2018

Summary

Official Symbol
ARAP1provided by HGNC
Official Full Name
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1provided by HGNC
Primary source
HGNC:HGNC:16925
See related
Ensembl:ENSG00000186635 MIM:606646; Vega:OTTHUMG00000157102
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CENTD2
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 32.0), appendix (RPKM 25.3) and 25 other tissues See more
Orthologs

Genomic context

See ARAP1 in Genome Data Viewer
Location:
11q13.4
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (72685069..72752389, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (72396114..72463465, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 2A Neighboring gene RNA, U7 small nuclear 105 pseudogene Neighboring gene uncharacterized LOC105369379 Neighboring gene ARAP1 antisense RNA 2 Neighboring gene ribosomal protein S12 pseudogene 20 Neighboring gene StAR related lipid transfer domain containing 10 Neighboring gene uncharacterized LOC105369380 Neighboring gene microRNA 4692 Neighboring gene uncharacterized LOC107984421

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
NHGRI GWA Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1, organism-specific biosystem (from REACTOME)
    PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1, organism-specific biosystemPTK6 enhances EGFR signaling by inhibiting EGFR down-regulation (Kang et al. 2010, Li et al. 2012, Kang and Lee 2013). PTK6 may also enhance signaling by other receptor tyrosine kinases (RTKs), such ...
  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by PTK6, organism-specific biosystem (from REACTOME)
    Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 1 angiotensin receptor binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1
Names
ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1
centaurin-delta-2
cnt-d2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001040118.2NP_001035207.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001035207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is the longest transcript and it encodes the longest protein (isoform c).
    Source sequence(s)
    AY553630, BC008315
    Consensus CDS
    CCDS41687.1
    UniProtKB/Swiss-Prot
    Q96P48
    Related
    ENSP00000377233.3, OTTHUMP00000211458, ENST00000393609.7, OTTHUMT00000347428
    Conserved Domains (11) summary
    cd09490
    Location:668
    SAM_Arap1,2,3; SAM domain of Arap1,2,3 (angiotensin receptor-associated protein)
    smart00454
    Location:1064
    SAM; Sterile alpha motif
    cd04385
    Location:9561135
    RhoGAP_ARAP; RhoGAP_ARAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in ARAPs. ARAPs (also known as centaurin deltas) contain, besides the RhoGAP domain, an Arf GAP, ankyrin repeat ras-associating, and PH domains. Since their ...
    cd13253
    Location:329421
    PH1_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 1
    cd13254
    Location:436525
    PH2_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 2
    cd13256
    Location:743849
    PH3_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 3
    cd13257
    Location:862952
    PH4_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 4
    cd13259
    Location:12631402
    PH5_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 5
    pfam00169
    Location:328419
    PH; PH domain
    pfam00788
    Location:11721261
    RA; Ras association (RalGDS/AF-6) domain
    pfam01412
    Location:535651
    ArfGap; Putative GTPase activating protein for Arf
  2. NM_001135190.1NP_001128662.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform d

    See identical proteins and their annotated locations for NP_001128662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame coding exons, compared to variant 3. the resulting protein (isoform d) has a shorter N-terminus and lacks the SAM domain and portions of the ArfGAP and fifth PH domains, compared to isoform c.
    Source sequence(s)
    AP003065, BC008315, BC140792, DA186424
    Consensus CDS
    CCDS44671.1
    UniProtKB/Swiss-Prot
    Q96P48
    Related
    ENSP00000403127.1, OTTHUMP00000211462, ENST00000429686.5, OTTHUMT00000347433
    Conserved Domains (9) summary
    cd04385
    Location:650829
    RhoGAP_ARAP; RhoGAP_ARAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in ARAPs. ARAPs (also known as centaurin deltas) contain, besides the RhoGAP domain, an Arf GAP, ankyrin repeat ras-associating, and PH domains. Since their ...
    cd13253
    Location:84176
    PH1_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 1
    cd13254
    Location:191280
    PH2_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 2
    cd13256
    Location:437543
    PH3_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 3
    cd13257
    Location:556646
    PH4_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 4
    cd13259
    Location:9571085
    PH5_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 5
    pfam00169
    Location:83174
    PH; PH domain
    pfam00788
    Location:866955
    RA; Ras association (RalGDS/AF-6) domain
    pfam01412
    Location:290362
    ArfGap; Putative GTPase activating protein for Arf
  3. NM_015242.4NP_056057.2  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_056057.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. This difference causes translation initiation at a downstream AUG and an isoform (a) with a shorter N-terminus compared to isoform c.
    Source sequence(s)
    AB018325, BC008315, DA186424
    Consensus CDS
    CCDS8217.2
    UniProtKB/Swiss-Prot
    Q96P48
    Related
    ENSP00000335506.8, OTTHUMP00000211460, ENST00000334211.12, OTTHUMT00000347430
    Conserved Domains (9) summary
    cd04385
    Location:711890
    RhoGAP_ARAP; RhoGAP_ARAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in ARAPs. ARAPs (also known as centaurin deltas) contain, besides the RhoGAP domain, an Arf GAP, ankyrin repeat ras-associating, and PH domains. Since their ...
    cd13253
    Location:84176
    PH1_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 1
    cd13254
    Location:191280
    PH2_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 2
    cd13256
    Location:498604
    PH3_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 3
    cd13257
    Location:617707
    PH4_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 4
    cd13259
    Location:10181157
    PH5_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 5
    pfam00169
    Location:83174
    PH; PH domain
    pfam00788
    Location:9271016
    RA; Ras association (RalGDS/AF-6) domain
    pfam01412
    Location:290406
    ArfGap; Putative GTPase activating protein for Arf

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    72685069..72752389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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