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ARHGAP9 Rho GTPase activating protein 9 [ Homo sapiens (human) ]

Gene ID: 64333, updated on 3-Apr-2024

Summary

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Official Symbol
ARHGAP9provided by HGNC
Official Full Name
Rho GTPase activating protein 9provided by HGNC
Primary source
HGNC:HGNC:14130
See related
Ensembl:ENSG00000123329 MIM:610576; AllianceGenome:HGNC:14130
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
10C; RGL1
Summary
This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 23.2), bone marrow (RPKM 22.4) and 14 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
12q13.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57472269..57488824, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57440558..57457116, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57866052..57882607, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6537 Neighboring gene inhibin subunit beta E Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4581 Neighboring gene GLI family zinc finger 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57869684-57870573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6542 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:57880828-57881775 and GRCh37_chr12:57881776-57882722 Neighboring gene methionyl-tRNA synthetase 1 Neighboring gene Sharpr-MPRA regulatory region 11633 Neighboring gene uncharacterized LOC124903093 Neighboring gene microRNA 6758

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. The role of ARHGAP9: clinical implication and potential function in acute myeloid leukemia. Han C, et al. J Transl Med, 2021 Feb 12. PMID 33579308, Free PMC Article
  2. GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells. Ji W, et al. Bioengineered, 2022 Feb. PMID 35040754, Free PMC Article
  3. SOX4-induced upregulation of ARHGAP9 promotes the progression of acute myeloid leukemia. He X, et al. Drug Dev Res, 2021 Dec. PMID 34159626
  4. ARHGAP9 suppresses the migration and invasion of hepatocellular carcinoma cells through up-regulating FOXJ2/E-cadherin. Zhang H, et al. Cell Death Dis, 2018 Sep 11. PMID 30206221, Free PMC Article
  5. Non-canonical interaction of phosphoinositides with pleckstrin homology domains of Tiam1 and ArhGAP9. Ceccarelli DF, et al. J Biol Chem, 2007 May 4. PMID 17339315

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ARHGAP9 inhibits colorectal cancer cell proliferation, invasion and EMT via targeting PI3K/AKT/mTOR signaling pathway.
    Title: ARHGAP9 inhibits colorectal cancer cell proliferation, invasion and EMT via targeting PI3K/AKT/mTOR signaling pathway.
  2. SOX4-induced upregulation of ARHGAP9 promotes the progression of acute myeloid leukemia.
    Title: SOX4-induced upregulation of ARHGAP9 promotes the progression of acute myeloid leukemia.
  3. GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
    Title: GATA binding protein 5 (GATA5) induces Rho GTPase activating protein 9 (ARHGAP9) to inhibit the malignant process of lung adenocarcinoma cells.
  4. The role of ARHGAP9: clinical implication and potential function in acute myeloid leukemia.
    Title: The role of ARHGAP9: clinical implication and potential function in acute myeloid leukemia.
  5. The data clearly show that ARHGAP9/FOXJ2 inhibit cell migration and invasion during hepatocellular carcinoma development via inducing the transcription of CDH1.
    Title: ARHGAP9 suppresses the migration and invasion of hepatocellular carcinoma cells through up-regulating FOXJ2/E-cadherin.
  6. The Ala370Ser polymorphism in the ARHGAP9 gene is associated with coronary artery spasm.
    Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Clone Names

  • MGC1295, FLJ16525

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
  
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
rho GTPase-activating protein 9
Names
rho-type GTPase-activating protein 9

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.

Genomic

  1. NG_023205.2 RefSeqGene

    Range
    13949..21546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080156.3 → NP_001073625.1  rho GTPase-activating protein 9 isoform 3

    See identical proteins and their annotated locations for NP_001073625.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 11 both encode the same isoform (3).
    Source sequence(s)
    AB030239, CB528354, DC390315
    Consensus CDS
    CCDS44928.1
    UniProtKB/Swiss-Prot
    Q9BRR9
    Related
    ENSP00000397950.2, ENST00000430041.6
    Conserved Domains (4) summary
    cd04403
    Location:337 → 541
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:140 → 252
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:139 → 251
    PH; PH domain
    pfam00397
    Location:35 → 61
    WW; WW domain

  2. NM_001080157.2 → NP_001073626.1  rho GTPase-activating protein 9 isoform 2

    See identical proteins and their annotated locations for NP_001073626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB030239, AK092763
    Consensus CDS
    CCDS44929.1
    UniProtKB/TrEMBL
    R4GN15
    Related
    ENSP00000394307.2, ENST00000424809.6
    Conserved Domains (4) summary
    cd13233
    Location:324 → 436
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:323 → 435
    PH; PH domain
    cl02570
    Location:521 → 639
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl17036
    Location:26 → 82
    SH3; Src Homology 3 domain superfamily

  3. NM_001319850.2 → NP_001306779.2  rho GTPase-activating protein 9 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, initiates translation at an alternate start codon and contains multiple additional 5' coding exons, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (4) has a longer N-terminus and is longer, compared to isoform 1.
    Source sequence(s)
    AC022506, BC006107
    Consensus CDS
    CCDS81705.2
    UniProtKB/Swiss-Prot
    B4DVI3, E9PDX9, Q8NAF3, Q8TCJ3, Q8WYR0, Q96EZ2, Q96S74, Q9BRR9
    UniProtKB/TrEMBL
    A0A2X0SF68
    Related
    ENSP00000377386.3, ENST00000393797.7

  4. NM_001319851.2 → NP_001306780.1  rho GTPase-activating protein 9 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion and contains an alternate segment in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. It initiates translation at a downstream start codon. The encoded isoform (5) has a shorter N-terminus and is shorter, compared to isoform 1.
    Source sequence(s)
    AC022506
    UniProtKB/TrEMBL
    B3KQ74
    Related
    ENST00000546200.5
    Conserved Domains (3) summary
    cd04403
    Location:210 → 414
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:1 → 106
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:8 → 105
    PH; PH domain

  5. NM_001319852.2 → NP_001306781.1  rho GTPase-activating protein 9 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (6) has a shorter N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC022506
    UniProtKB/Swiss-Prot
    Q9BRR9
    Conserved Domains (4) summary
    cd04403
    Location:356 → 560
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:140 → 252
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:139 → 251
    PH; PH domain
    pfam00397
    Location:35 → 61
    WW; WW domain

  6. NM_001367422.1 → NP_001354351.1  rho GTPase-activating protein 9 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022506

  7. NM_001367423.1 → NP_001354352.1  rho GTPase-activating protein 9 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022506

  8. NM_001367424.1 → NP_001354353.1  rho GTPase-activating protein 9 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022506

  9. NM_001367425.1 → NP_001354354.1  rho GTPase-activating protein 9 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022506

  10. NM_001367426.1 → NP_001354355.1  rho GTPase-activating protein 9 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 3, encodes isoform 3.
    Source sequence(s)
    AC022506
    Consensus CDS
    CCDS44928.1

  11. NM_032496.4 → NP_115885.2  rho GTPase-activating protein 9 isoform 1

    See identical proteins and their annotated locations for NP_115885.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB051853, DC408597
    Consensus CDS
    CCDS8941.2
    UniProtKB/TrEMBL
    A0A2X0SF68
    Related
    ENSP00000377380.3, ENST00000393791.8
    Conserved Domains (5) summary
    cd12143
    Location:26 → 82
    SH3_ARHGAP9; Src Homology 3 domain of Rho GTPase-activating protein 9 and similar proteins
    cd04403
    Location:521 → 725
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:324 → 436
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:323 → 435
    PH; PH domain
    pfam00397
    Location:219 → 245
    WW; WW domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57472269..57488824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429331.1 → XP_047285287.1  rho GTPase-activating protein 9 isoform X3

    UniProtKB/Swiss-Prot
    B4DVI3, E9PDX9, Q8NAF3, Q8TCJ3, Q8WYR0, Q96EZ2, Q96S74, Q9BRR9

  2. XM_047429334.1 → XP_047285290.1  rho GTPase-activating protein 9 isoform X5

  3. XM_047429329.1 → XP_047285285.1  rho GTPase-activating protein 9 isoform X2

  4. XM_047429330.1 → XP_047285286.1  rho GTPase-activating protein 9 isoform X3

    UniProtKB/Swiss-Prot
    B4DVI3, E9PDX9, Q8NAF3, Q8TCJ3, Q8WYR0, Q96EZ2, Q96S74, Q9BRR9

  5. XM_011538659.3 → XP_011536961.1  rho GTPase-activating protein 9 isoform X4

    See identical proteins and their annotated locations for XP_011536961.1

    UniProtKB/TrEMBL
    R4GN15
    Related
    ENSP00000473445.2, ENST00000550288.6
    Conserved Domains (4) summary
    cd13233
    Location:324 → 436
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:323 → 435
    PH; PH domain
    cl02570
    Location:521 → 639
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl17036
    Location:26 → 82
    SH3; Src Homology 3 domain superfamily

  6. XM_011538656.3 → XP_011536958.1  rho GTPase-activating protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011536958.1

    UniProtKB/TrEMBL
    A0A2X0SF68
    Conserved Domains (5) summary
    cd12143
    Location:26 → 82
    SH3_ARHGAP9; Src Homology 3 domain of Rho GTPase-activating protein 9 and similar proteins
    cd04403
    Location:521 → 725
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:324 → 436
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:323 → 435
    PH; PH domain
    pfam00397
    Location:219 → 245
    WW; WW domain

  7. XM_047429333.1 → XP_047285289.1  rho GTPase-activating protein 9 isoform X1

  8. XM_047429332.1 → XP_047285288.1  rho GTPase-activating protein 9 isoform X1

  9. XM_047429335.1 → XP_047285291.1  rho GTPase-activating protein 9 isoform X6

  10. XM_047429337.1 → XP_047285293.1  rho GTPase-activating protein 9 isoform X8

  11. XM_047429336.1 → XP_047285292.1  rho GTPase-activating protein 9 isoform X7

  12. XM_047429340.1 → XP_047285296.1  rho GTPase-activating protein 9 isoform X11

  13. XM_005269083.3 → XP_005269140.1  rho GTPase-activating protein 9 isoform X7

    See identical proteins and their annotated locations for XP_005269140.1

    UniProtKB/Swiss-Prot
    Q9BRR9
    Conserved Domains (4) summary
    cd04403
    Location:356 → 560
    RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
    cd13233
    Location:140 → 252
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:139 → 251
    PH; PH domain
    pfam00397
    Location:35 → 61
    WW; WW domain

  14. XM_047429339.1 → XP_047285295.1  rho GTPase-activating protein 9 isoform X10

  15. XM_047429338.1 → XP_047285294.1  rho GTPase-activating protein 9 isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57440558..57457116 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372872.1 → XP_054228847.1  rho GTPase-activating protein 9 isoform X5

  2. XM_054372868.1 → XP_054228843.1  rho GTPase-activating protein 9 isoform X3

  3. XM_054372871.1 → XP_054228846.1  rho GTPase-activating protein 9 isoform X4

  4. XM_054372867.1 → XP_054228842.1  rho GTPase-activating protein 9 isoform X1

  5. XM_054372870.1 → XP_054228845.1  rho GTPase-activating protein 9 isoform X1

  6. XM_054372869.1 → XP_054228844.1  rho GTPase-activating protein 9 isoform X1

  7. XM_054372873.1 → XP_054228848.1  rho GTPase-activating protein 9 isoform X6

  8. XM_054372875.1 → XP_054228850.1  rho GTPase-activating protein 9 isoform X7

  9. XM_054372876.1 → XP_054228851.1  rho GTPase-activating protein 9 isoform X8

  10. XM_054372879.1 → XP_054228854.1  rho GTPase-activating protein 9 isoform X11

  11. XM_054372874.1 → XP_054228849.1  rho GTPase-activating protein 9 isoform X7

  12. XM_054372877.1 → XP_054228852.1  rho GTPase-activating protein 9 isoform X12

  13. XM_054372878.1 → XP_054228853.1  rho GTPase-activating protein 9 isoform X13

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRR9.2 GenPept UniProtKB/Swiss-Prot:Q9BRR9

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