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    ARHGAP1 Rho GTPase activating protein 1 [ Homo sapiens (human) ]

    Gene ID: 392, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ARHGAP1provided by HGNC
    Official Full Name
    Rho GTPase activating protein 1provided by HGNC
    Primary source
    HGNC:HGNC:673
    See related
    Ensembl:ENSG00000175220 MIM:602732; AllianceGenome:HGNC:673
    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
    RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP
    Summary
    This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 39.6), heart (RPKM 37.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46677080..46700619, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46833096..46856635, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46698630..46722169, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene autophagy and beclin 1 regulator 1 Neighboring gene microRNA 3160-1 Neighboring gene microRNA 3160-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3313 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:46559175-46559678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46559679-46560184 Neighboring gene Sharpr-MPRA regulatory region 9650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46587793-46588293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4681 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46605824-46606668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46615325-46615825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4683 Neighboring gene Sharpr-MPRA regulatory region 32 Neighboring gene harbinger transposase derived 1 Neighboring gene autophagy related 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46715957-46716456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4684 Neighboring gene zinc finger protein 408 Neighboring gene coagulation factor II, thrombin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Gene expression profiling of metastatic brain cancer. Zohrabian VM, et al. Oncol Rep, 2007 Aug. PMID 17611651
    2. Magnesium fluoride-dependent binding of small G proteins to their GTPase-activating proteins. Graham DL, et al. Biochemistry, 1999 Nov 9. PMID 10555980
    3. Distinct cellular effects and interactions of the Rho-family GTPase TC10. Neudauer CL, et al. Curr Biol, 1998 Oct 22. PMID 9799731
    4. Sequence and 3D structural relationships between mammalian Ras- and Rho-specific GTPase-activating proteins (GAPs): the cradle fold. Calmels TP, et al. FEBS Lett, 1998 Apr 17. PMID 9599009
    5. The role of Mg2+ cofactor in the guanine nucleotide exchange and GTP hydrolysis reactions of Rho family GTP-binding proteins. Zhang B, et al. J Biol Chem, 2000 Aug 18. PMID 10843989

    See all (127) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Early gastric cancer with RhoGAP fusion is linked to frequent nodal metastasis and a part of microtubular-mucocellular histology.
      Title: Early gastric cancer with RhoGAP fusion is linked to frequent nodal metastasis and a part of microtubular-mucocellular histology.
    2. Structural basis for the distinct roles of non-conserved Pro116 and conserved Tyr124 of BCH domain of yeast p50RhoGAP.
      Title: Structural basis for the distinct roles of non-conserved Pro116 and conserved Tyr124 of BCH domain of yeast p50RhoGAP.
    3. Cdc42GAP deficiency contributes to the Alzheimer's disease phenotype.
      Title: Cdc42GAP deficiency contributes to the Alzheimer's disease phenotype.
    4. The Role of ARHGAP1 in Rho GTPase Inactivation during Metastasizing of Breast Cancer Cell Line MCF-7 after Treatment with Doxorubicin.
      Title: The Role of ARHGAP1 in Rho GTPase Inactivation during Metastasizing of Breast Cancer Cell Line MCF-7 after Treatment with Doxorubicin.
    5. circRNA RPPH1 Facilitates the Aggravation of Breast Cancer Development by Regulating miR-542-3p/ARHGAP1 Pathway.
      Title: circRNA RPPH1 Facilitates the Aggravation of Breast Cancer Development by Regulating miR-542-3p/ARHGAP1 Pathway.
    6. Exosome miR-134-5p restrains breast cancer progression via regulating PI3K/AKT pathway by targeting ARHGAP1.
      Title: Exosome miR-134-5p restrains breast cancer progression via regulating PI3K/AKT pathway by targeting ARHGAP1.
    7. Angio-associated migratory cell protein (AAMP) interacts with cell division cycle 42 (CDC42) and enhances migration and invasion in human non-small cell lung cancer cells.
      Title: Angio-associated migratory cell protein (AAMP) interacts with cell division cycle 42 (CDC42) and enhances migration and invasion in human non-small cell lung cancer cells.
    8. identified ARHGAP1, which is a negative regulator of CDC42, as a novel, direct target of miR-130b
      Title: miR-130b directly targets ARHGAP1 to drive activation of a metastatic CDC42-PAK1-AP1 positive feedback loop in Ewing sarcoma.
    9. to complete invasion of the endothelium, staphylococci reorient recycling endocytic vesicles to recruit Cdc42GAP.
      Title: Staphylococcus aureus recruits Cdc42GAP through recycling endosomes and the exocyst to invade human endothelial cells.
    10. we identified novel associations in WLS , ARHGAP1 , and 5' of MEF2C ( P- values < 8x10 - 5 ; false discovery rate (FDR) q-values < 0.01) that were much more strongly associated with BMD compared to the GWAS SNPs.
      Title: Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in small GTPase-mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within small GTPase-mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transferrin transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with sorting endosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rho GTPase-activating protein 1
    Names
    CDC42 GTPase-activating protein
    GTPase-activating protein rhoGAP
    GTPase-activating protein rhoOGAP
    GTPase-activating protein, Rho, 1
    rho-related small GTPase protein activator
    rho-type GTPase-activating protein 1

    NCBI Reference Sequences (RefSeq)

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    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_004308.5 → NP_004299.1  rho GTPase-activating protein 1

      Status: REVIEWED

      Source sequence(s)
      AC115088
      Consensus CDS
      CCDS7922.1
      UniProtKB/Swiss-Prot
      D3DQQ6, Q07960
      UniProtKB/TrEMBL
      B4DPZ4
      Related
      ENSP00000310491.4, ENST00000311956.9
      Conserved Domains (2) summary
      cd04404
      Location:239 → 431
      RhoGAP-p50rhoGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol 3,4, ...
      pfam13716
      Location:82 → 216
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46677080..46700619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426933.1 → XP_047282889.1  rho GTPase-activating protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQQ6, Q07960

    2. XM_024448520.2 → XP_024304288.1  rho GTPase-activating protein 1 isoform X1

      UniProtKB/TrEMBL
      H0YE29
      Related
      ENSP00000434883.1, ENST00000528837.5
      Conserved Domains (2) summary
      cd00170
      Location:77 → 160
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd04404
      Location:195 → 387
      RhoGAP-p50rhoGAP; RhoGAP-p50rhoGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      46833096..46856635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368746.1 → XP_054224721.1  rho GTPase-activating protein 1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQQ6, Q07960

    2. XM_054368745.1 → XP_054224720.1  rho GTPase-activating protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07960.1 GenPept UniProtKB/Swiss-Prot:Q07960

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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