ARHGAP30 Rho GTPase activating protein 30 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP30provided by HGNC
Official Full Name: Rho GTPase activating protein 30provided by HGNC
Primary source: HGNC:HGNC:27414
See related: Ensembl:ENSG00000186517 MIM:614264; AllianceGenome:HGNC:27414
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in small GTPase mediated signal transduction. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lymph node (RPKM 43.4), spleen (RPKM 39.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161046946..161069891, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160184453..160207382, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161016736..161039681, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Knockdown of ARHGAP30 inhibits ovarian cancer cell proliferation, migration, and invasiveness by suppressing the PI3K/AKT/mTOR signaling pathway.
Title: Knockdown of ARHGAP30 inhibits ovarian cancer cell proliferation, migration, and invasiveness by suppressing the PI3K/AKT/mTOR signaling pathway.
Overexpression of ARHGAP30 suppresses growth of cervical cancer cells by downregulating ribosome biogenesis.
Title: Overexpression of ARHGAP30 suppresses growth of cervical cancer cells by downregulating ribosome biogenesis.
Potential Prognostic Predictors and Molecular Targets for Skin Melanoma Screened by Weighted Gene Co-expression Network Analysis.
Title: Potential Prognostic Predictors and Molecular Targets for Skin Melanoma Screened by Weighted Gene Co-expression Network Analysis.
ArhGAP30 is required for p53 acetylation and functional activation in colorectal cancer.Down-regulation of ArhGAP30 in colorectal cancer is associated with poor survival.
Title: ArhGAP30 promotes p53 acetylation and function in colorectal cancer.
A screen for Wrch-1 binding-partners identified the novel RhoGAP protein, ARHGAP30, as a Wrch-1 interactor.
Title: ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion.

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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
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D1S273E (e-PCR)
- UniSTS:52061

STS-W72330 (e-PCR)
- UniSTS:64663

D1S273E (e-PCR)
- UniSTS:147367

RH36021 (e-PCR)
- UniSTS:33259

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	TAS Traceable Author Statement more info
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
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: rho GTPase-activating protein 30

Names: rho-type GTPase-activating protein 30

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)

NM_001025598.2 → NP_001020769.1 rho GTPase-activating protein 30 isoform 1

See identical proteins and their annotated locations for NP_001020769.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK160366, AL591806

Consensus CDS

CCDS30918.1

UniProtKB/Swiss-Prot

Q5SY52, Q5SY53, Q5SY54, Q6ZML6, Q7Z3J8, Q7Z6I6, Q86XI7

Related

ENSP00000356992.3, ENST00000368013.8

Conserved Domains (3) summary

PRK07003
Location:332 → 413

PRK07003; DNA polymerase III subunit gamma/tau

cd04384
Location:16 → 210

RhoGAP_CdGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP is recruited to ...

TIGR00927
Location:673 → 887

2A1904; K+-dependent Na+/Ca+ exchanger
NM_001287600.2 → NP_001274529.1 rho GTPase-activating protein 30 isoform 3

See identical proteins and their annotated locations for NP_001274529.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon and uses a downstream translation initiation codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AA835836, AK126163, AK160366, BC043387, DA814767

UniProtKB/Swiss-Prot

Q7Z6I6

Conserved Domains (1) summary

cl02570
Location:1 → 62

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 ...
NM_001287602.2 → NP_001274531.1 rho GTPase-activating protein 30 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 4.

Source sequence(s)

AA835836, AK126163, AK160366, DA814767

Consensus CDS

CCDS72958.1

UniProtKB/TrEMBL

A0A0A0MRJ8

Related

ENSP00000356994.1, ENST00000368015.1

Conserved Domains (1) summary

cl02570
Location:1 → 33

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 ...
NM_181720.3 → NP_859071.2 rho GTPase-activating protein 30 isoform 2

See identical proteins and their annotated locations for NP_859071.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK160366, AL832852, AL833477, BC025732, BC053688

Consensus CDS

CCDS1215.1

UniProtKB/TrEMBL

A0A0A0MRJ9

Related

ENSP00000356995.3, ENST00000368016.7

Conserved Domains (2) summary

cd04384
Location:16 → 210

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl26386
Location:332 → 413

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

161046946..161069891 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005245073.4 → XP_005245130.1 rho GTPase-activating protein 30 isoform X2

See identical proteins and their annotated locations for XP_005245130.1

UniProtKB/Swiss-Prot

Q7Z6I6

Conserved Domains (1) summary

cl02570
Location:1 → 62

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 ...
XM_047417140.1 → XP_047273096.1 rho GTPase-activating protein 30 isoform X3
XM_011509391.3 → XP_011507693.1 rho GTPase-activating protein 30 isoform X2

See identical proteins and their annotated locations for XP_011507693.1

UniProtKB/Swiss-Prot

Q7Z6I6

Conserved Domains (1) summary

cl02570
Location:1 → 62

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 ...
XM_005245070.3 → XP_005245127.1 rho GTPase-activating protein 30 isoform X1

Conserved Domains (1) summary

cd04384
Location:16 → 210

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...