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

Gene ID: 392, updated on 3-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
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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 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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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

    See identical proteins and their annotated locations for NP_004299.1

    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

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