ARHGEF25 Rho guanine nucleotide exchange factor 25 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGEF25provided by HGNC
Official Full Name: Rho guanine nucleotide exchange factor 25provided by HGNC
Primary source: HGNC:HGNC:30275
See related: Ensembl:ENSG00000240771 MIM:610215; AllianceGenome:HGNC:30275
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: GEFT; p63RhoGEF
Summary: Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Broad expression in endometrium (RPKM 29.1), prostate (RPKM 19.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57610116..57617245)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57578335..57585464)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (58003899..58011028)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Lnc-PSMA8-1 activated by GEFT promotes rhabdomyosarcoma progression via upregulation of mTOR expression by sponging miR-144-3p.
Title: Lnc-PSMA8-1 activated by GEFT promotes rhabdomyosarcoma progression via upregulation of mTOR expression by sponging miR-144-3p.
Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3beta-beta-catenin cascade via regulation of Rac1/Cdc42.
Title: Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3β-β-catenin cascade via regulation of Rac1/Cdc42.
p63RhoGEF(619) relocates to the plasma membrane upon activation of Galphaq coupled GPCRs, resembling the well-known activation mechanism of RhoGEFs activated by Galpha12/13.
Title: Kinetics of recruitment and allosteric activation of ARHGEF25 isoforms by the heterotrimeric G-protein Gαq.
p63RhoGEF can rapidly activate RhoA through endogenous G-protein coupled receptors.
Title: Plasma membrane restricted RhoGEF activity is sufficient for RhoA-mediated actin polymerization.
assessed p63RhoGEF gene and protein expression and RhoA/Rho kinase activity in essential hypertensive and Bartter's and Gitelman's syndrome patients, a model opposite to hypertension
Title: Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients.
Signaling efficiency of Galphaq through its effectors p63RhoGEF and GEFT depends on their subcellular location.
Title: Signaling efficiency of Gαq through its effectors p63RhoGEF and GEFT depends on their subcellular location.
p63RhoGEF-mediated formation of a single polarized lamellipodium is required for chemotactic migration in breast carcinoma cells.
Title: p63RhoGEF-mediated formation of a single polarized lamellipodium is required for chemotactic migration in breast carcinoma cells.
Signaling through p63RhoGEF provides a novel mechanism for selective regulation of blood pressure.
Title: p63RhoGEF couples Gα(q/11)-mediated signaling to Ca2+ sensitization of vascular smooth muscle contractility.
p63RhoGEF is regulated chiefly through allosteric control by Galpha(q), as opposed to other known Galpha-regulated RhoGEFs, which are instead sequestered in the cytoplasm, perhaps because of their high basal activity.
Title: Plasma membrane association of p63 Rho guanine nucleotide exchange factor (p63RhoGEF) is mediated by palmitoylation and is required for basal activity in cells.
Specifically mediates angiotensin II- Gq/11-dependent RhoA activation and downstream signaling and processes in vascular smooth muscle cells
Title: p63RhoGEF--a key mediator of angiotensin II-dependent signaling and processes in vascular smooth muscle cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement 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
is_active_in extrinsic component of membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcomere	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho guanine nucleotide exchange factor 25

Names: RAC/CDC42 exchange factor; Rho guanine nucleotide exchange factor (GEF) 25; RhoA/RAC/CDC42 exchange factor; guanine nucleotide exchange factor GEFT; rac/Cdc42/Rho exchange factor GEFT; rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT

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_053182.2 RefSeqGene

Range

6320..12130

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001111270.3 → NP_001104740.2 rho guanine nucleotide exchange factor 25 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, and in the presence and absence of exons in the 5' coding region, compared to variant 1. The resulting isoform (3) contains a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AC025165

Consensus CDS

CCDS44931.1

Related

ENSP00000335560.7, ENST00000333972.11

Conserved Domains (2) summary

cd13241
Location:378 → 520

PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2

pfam00621
Location:203 → 373

RhoGEF; RhoGEF domain
NM_001347933.2 → NP_001334862.2 rho guanine nucleotide exchange factor 25 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC025165

Conserved Domains (2) summary

cd13241
Location:309 → 451

PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2

pfam00621
Location:164 → 304

RhoGEF; RhoGEF domain
NM_182947.4 → NP_891992.3 rho guanine nucleotide exchange factor 25 isoform 1

Status: REVIEWED

Description

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

Source sequence(s)

AC025165

Consensus CDS

CCDS8947.1

UniProtKB/Swiss-Prot

A6NJH5, A9CQZ6, F8W7Z4, Q86VW2, Q8WV84, Q96E63

Related

ENSP00000286494.4, ENST00000286494.9

Conserved Domains (2) summary

cd13241
Location:339 → 481

PH2_Kalirin_Trio_p63RhoGEF; p63RhoGEF pleckstrin homology (PH) domain, repeat 2

pfam00621
Location:164 → 334

RhoGEF; RhoGEF domain

RNA

NR_046223.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains two alternate exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC025165

Related

ENST00000616622.1

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

57610116..57617245

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

57578335..57585464

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_133483.2: Suppressed sequence

Description

NM_133483.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.