ARHGAP19 Rho GTPase activating protein 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP19provided by HGNC
Official Full Name: Rho GTPase activating protein 19provided by HGNC
Primary source: HGNC:HGNC:23724
See related: Ensembl:ENSG00000213390 MIM:611587; AllianceGenome:HGNC:23724
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: Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in testis (RPKM 13.6), bone marrow (RPKM 8.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (97222179..97292637, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (98103011..98172839, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (98981936..99052394, complement)

Chromosome 10 - NC_000010.11 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?

MicroRNA-192-5p inhibits migration of triple negative breast cancer cells and directly regulates Rho GTPase activating protein 19.
Title: MicroRNA-192-5p inhibits migration of triple negative breast cancer cells and directly regulates Rho GTPase activating protein 19.
Regulation of ARHGAP19 in the endometrial epithelium: a possible role in the establishment of uterine receptivity.
Title: Regulation of ARHGAP19 in the endometrial epithelium: a possible role in the establishment of uterine receptivity.
The docking of 14-3-3 proteins to phosphorylated S422 protects ARHGAP19 from dephosphorylation of the threonine sites and prevents ARHGAP19 from relocating to the plasma membrane during prophase and metaphase, thus allowing RhoA to become activated
Title: Phosphorylation of ARHGAP19 by CDK1 and ROCK regulates its subcellular localization and function during mitosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
sequence analysis of the ARHGAP19 gene and its genomic structure, expression profile and sub-cellular localization
Title: Sequence analysis of a human RhoGAP domain-containing gene and characterization of its expression in human multiple tissues.

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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

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

STS-F10974 (e-PCR)
- UniSTS:1538

RH102738 (e-PCR)
- UniSTS:97072

ARHGAP19__4358 (e-PCR)
- UniSTS:463546

Readthrough ARHGAP19-SLIT1

Readthrough gene: ARHGAP19-SLIT1, Included gene: SLIT1

Clone Names

MGC14258, MGC138804, MGC138805, DKFZp313K217

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	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 intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: rho GTPase-activating protein 19

Names: putative RhoGAP protein; rho-type GTPase-activating protein 19

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_001204300.2 → NP_001191229.1 rho GTPase-activating protein 19 isoform 2

See identical proteins and their annotated locations for NP_001191229.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AL359385

Consensus CDS

CCDS73175.1

UniProtKB/TrEMBL

A0A2X0U4I8

Related

ENSP00000351058.4, ENST00000358308.7

Conserved Domains (1) summary

cd04392
Location:113 → 291

RhoGAP_ARHGAP19; RhoGAP_ARHGAP19: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP19-like proteins. The function of ArhGAP19 is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active in their ...
NM_001256423.2 → NP_001243352.1 rho GTPase-activating protein 19 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant 1, resulting in an isoform (3) that has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AL359385

Consensus CDS

CCDS58092.1

UniProtKB/TrEMBL

A0A2X0U4I8

Related

ENSP00000360066.1, ENST00000371027.5

Conserved Domains (1) summary

cd04392
Location:104 → 311

RhoGAP_ARHGAP19; RhoGAP_ARHGAP19: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP19-like proteins. The function of ArhGAP19 is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active in their ...
NM_032900.6 → NP_116289.4 rho GTPase-activating protein 19 isoform 1

See identical proteins and their annotated locations for NP_116289.4

Status: VALIDATED

Description

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

Source sequence(s)

AL359385

Consensus CDS

CCDS7454.2

UniProtKB/Swiss-Prot

A1XCP1, B4DZR1, Q14CB8, Q14CF2, Q5J8M2, Q5T460, Q5T462, Q68DG6, Q8N9X1, Q8NF34, Q8TEK1

UniProtKB/TrEMBL

A0A2X0U4I8

Related

ENSP00000351333.4, ENST00000358531.9

Conserved Domains (1) summary

cd04392
Location:113 → 320

RhoGAP_ARHGAP19; RhoGAP_ARHGAP19: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP19-like proteins. The function of ArhGAP19 is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active in their ...