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

Gene ID: 257106, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1971 Neighboring gene thiosulfate sulfurtransferase like domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1972 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:161015335-161016534 Neighboring gene upstream transcription factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161038974-161039520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161044543-161045219 Neighboring gene nectin cell adhesion molecule 4 Neighboring gene NECTIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9

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. Overexpression of ARHGAP30 suppresses growth of cervical cancer cells by downregulating ribosome biogenesis. Wu A, et al. Cancer Sci, 2021 Nov. PMID 34490691, Free PMC Article
  2. ArhGAP30 promotes p53 acetylation and function in colorectal cancer. Wang J, et al. Nat Commun, 2014 Aug 26. PMID 25156493
  3. Potential Prognostic Predictors and Molecular Targets for Skin Melanoma Screened by Weighted Gene Co-expression Network Analysis. Chen S, et al. Curr Gene Ther, 2020. PMID 32416689
  4. ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion. Naji L, et al. Biochem Biophys Res Commun, 2011 May 27. PMID 21565175
  5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. Brill LM, et al. Anal Chem, 2004 May 15. PMID 15144186

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00267, FLJ44128

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)

  1. 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

  2. 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 ...

  3. 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 ...

  4. 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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161046946..161069891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

  2. XM_047417140.1 → XP_047273096.1  rho GTPase-activating protein 30 isoform X3

  3. 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 ...

  4. 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160184453..160207382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335845.1 → XP_054191820.1  rho GTPase-activating protein 30 isoform X2

  2. XM_054335846.1 → XP_054191821.1  rho GTPase-activating protein 30 isoform X3

  3. XM_054335844.1 → XP_054191819.1  rho GTPase-activating protein 30 isoform X2

  4. XM_054335843.1 → XP_054191818.1  rho GTPase-activating protein 30 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6I6.3 GenPept UniProtKB/Swiss-Prot:Q7Z6I6

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