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

Summary

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

Location:: 12q13.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57472269..57488824, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57440558..57457116, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57866052..57882607, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
The Ala370Ser polymorphism in the ARHGAP9 gene is associated with coronary artery spasm.
Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102952 (e-PCR)
- UniSTS:97286

PMC156767P1 (e-PCR)
- UniSTS:271429

STS-X07384 (e-PCR)
- UniSTS:51623

GDB:384866 (e-PCR)
- UniSTS:157113

D12S1934 (e-PCR)
- UniSTS:12266

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 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 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

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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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

NG_023205.2 RefSeqGene

Range

13949..21546

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC022506
NM_001367423.1 → NP_001354352.1 rho GTPase-activating protein 9 isoform 8

Status: REVIEWED

Source sequence(s)

AC022506
NM_001367424.1 → NP_001354353.1 rho GTPase-activating protein 9 isoform 9

Status: REVIEWED

Source sequence(s)

AC022506
NM_001367425.1 → NP_001354354.1 rho GTPase-activating protein 9 isoform 10

Status: REVIEWED

Source sequence(s)

AC022506
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

57472269..57488824 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B4DVI3, E9PDX9, Q8NAF3, Q8TCJ3, Q8WYR0, Q96EZ2, Q96S74, Q9BRR9
XM_047429334.1 → XP_047285290.1 rho GTPase-activating protein 9 isoform X5
XM_047429329.1 → XP_047285285.1 rho GTPase-activating protein 9 isoform X2
XM_047429330.1 → XP_047285286.1 rho GTPase-activating protein 9 isoform X3

UniProtKB/Swiss-Prot

B4DVI3, E9PDX9, Q8NAF3, Q8TCJ3, Q8WYR0, Q96EZ2, Q96S74, Q9BRR9
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
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
XM_047429333.1 → XP_047285289.1 rho GTPase-activating protein 9 isoform X1
XM_047429332.1 → XP_047285288.1 rho GTPase-activating protein 9 isoform X1
XM_047429335.1 → XP_047285291.1 rho GTPase-activating protein 9 isoform X6
XM_047429337.1 → XP_047285293.1 rho GTPase-activating protein 9 isoform X8
XM_047429336.1 → XP_047285292.1 rho GTPase-activating protein 9 isoform X7
XM_047429340.1 → XP_047285296.1 rho GTPase-activating protein 9 isoform X11
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
XM_047429339.1 → XP_047285295.1 rho GTPase-activating protein 9 isoform X10
XM_047429338.1 → XP_047285294.1 rho GTPase-activating protein 9 isoform X9