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

Gene ID: 257106, updated on 24-Nov-2020

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
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
Expression
Broad expression in lymph node (RPKM 43.4), spleen (RPKM 39.2) and 17 other tissues See more
Orthologs

Genomic context

See ARHGAP30 in Genome Data Viewer
Location:
1q23.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (161046942..161069971, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161016731..161039760, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene thiosulfate sulfurtransferase like domain containing 1 Neighboring gene upstream transcription factor 1 Neighboring gene nectin cell adhesion molecule 4 Neighboring gene NECTIN4 antisense RNA 1 Neighboring gene kelch domain containing 9

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00267, FLJ44128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 30
Names
rho-type GTPase-activating protein 30

NCBI Reference Sequences (RefSeq)

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_001025598.2NP_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
    Q7Z6I6
    Related
    ENSP00000356992.3, ENST00000368013.8
    Conserved Domains (1) summary
    cd04384
    Location:16210
    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 ...
  2. NM_001287600.2NP_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:162
    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_001287602.2NP_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/Swiss-Prot
    Q7Z6I6
    UniProtKB/TrEMBL
    A0A0A0MRJ8
    Related
    ENSP00000356994.1, ENST00000368015.1
    Conserved Domains (1) summary
    cl02570
    Location:133
    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_181720.3NP_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/Swiss-Prot
    Q7Z6I6
    UniProtKB/TrEMBL
    A0A0A0MRJ9
    Related
    ENSP00000356995.3, ENST00000368016.7
    Conserved Domains (2) summary
    cd04384
    Location:16210
    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:332413
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    161046942..161069971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245073.3XP_005245130.1  rho GTPase-activating protein 30 isoform X3

    See identical proteins and their annotated locations for XP_005245130.1

    UniProtKB/Swiss-Prot
    Q7Z6I6
    Conserved Domains (1) summary
    cl02570
    Location:162
    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_017000960.1XP_016856449.1  rho GTPase-activating protein 30 isoform X2

  3. XM_005245070.2XP_005245127.1  rho GTPase-activating protein 30 isoform X1

    Conserved Domains (1) summary
    cd04384
    Location:16210
    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 ...
  4. XM_011509391.2XP_011507693.1  rho GTPase-activating protein 30 isoform X3

    See identical proteins and their annotated locations for XP_011507693.1

    UniProtKB/Swiss-Prot
    Q7Z6I6
    Conserved Domains (1) summary
    cl02570
    Location:162
    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 ...
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