Plekhg5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plekhg5provided by MGI
Official Full Name: pleckstrin homology domain containing, family G (with RhoGef domain) member 5provided by MGI
Primary source: MGI:MGI:2652860
See related: Ensembl:ENSMUSG00000039713 AllianceGenome:MGI:2652860
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Syx
Summary: This gene encodes a protein belonging to the Rho guanine exchange factor (GEF) family of proteins, which activate GTPases by replacing GDP with GTP. This family member is a RhoA GEF that plays a role in endothelial cell migration and tube formation. It is required for angiogenesis and may function in neuronal cell differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Expression: Ubiquitous expression in lung adult (RPKM 14.6), ovary adult (RPKM 13.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4; 4 E2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (152156890..152199861)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (152072433..152115404)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that pleckstrin homology containing family member 5 (Plekhg5)-depleted cultured motoneurons show defective axon growth and impaired autophagy of synaptic vesicles, which can be rescued by constitutively active ras-related protein Rab-26 (Rab26).
Title: Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.
Plekhg5 affects cell polarity, migration, adhesion, degradation, and podosome organization in macrophages and osteoclasts.
Title: The Rho-specific guanine nucleotide exchange factor Plekhg5 modulates cell polarity, adhesion, migration, and podosome organization in macrophages and osteoclasts.
Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells.
Title: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts.
Title: Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx.
VEGF causes translocation of Syx from cell junctions, promoting junction disassembly, whereas angiopoietin 1 maintains Syx at the junctions, inducing junction stabilization.
Title: VEGF and Angiopoietin-1 exert opposing effects on cell junctions by regulating the Rho GEF Syx.
a well defined Rnd3 effector Syx
Title: The RhoA GEF Syx is a target of Rnd3 and regulated via a Raf1-like ubiquitin-related domain.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Plekhg5 gene: The Plekhg5 gene is conserved in human, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 317 organisms have orthologs with human gene Plekhg5
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endothelial cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelial cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation protein catabolic process at presynapse	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation protein catabolic process at presynapse	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation protein catabolic process at presynapse	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pleckstrin homology domain-containing family G member 5

Names: PH domain-containing family G member 5; RhoA-specific guanine exchange factor SYX1; RhoA-specific guanine exchange factor SYX2; synectin-binding RhoA exchange factor

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_001285999.2 → NP_001272928.1 pleckstrin homology domain-containing family G member 5 isoform 1

See identical proteins and their annotated locations for NP_001272928.1

Status: REVIEWED

Source sequence(s)

AL611927, AL772240

Consensus CDS

CCDS18987.2

UniProtKB/Swiss-Prot

Q66T02, Q8R571

UniProtKB/TrEMBL

A0A2X0SG37

Related

ENSMUSP00000101286.4, ENSMUST00000105661.10

Conserved Domains (3) summary

smart00325
Location:410 → 596

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:653 → 751

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:142 → 216

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
NM_001374783.1 → NP_001361712.1 pleckstrin homology domain-containing family G member 5 isoform 2

Status: REVIEWED

Source sequence(s)

AL611927, AL772240

Consensus CDS

CCDS89862.1

UniProtKB/TrEMBL

B1AS67

Related

ENSMUSP00000112707.2, ENSMUST00000118648.8

Conserved Domains (3) summary

smart00325
Location:397 → 583

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:640 → 738

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:129 → 203

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

RNA

NR_104381.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL611927, AL772240

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

152156890..152199861

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538928.1 → XP_006538991.1 pleckstrin homology domain-containing family G member 5 isoform X7

See identical proteins and their annotated locations for XP_006538991.1

UniProtKB/TrEMBL

A0A0A0MQC2

Related

ENSMUSP00000101287.2, ENSMUST00000105662.8

Conserved Domains (3) summary

smart00325
Location:378 → 564

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:621 → 719

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:110 → 184

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_036164163.1 → XP_036020056.1 pleckstrin homology domain-containing family G member 5 isoform X3

Conserved Domains (3) summary

smart00325
Location:440 → 609

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:666 → 764

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:172 → 246

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_006538925.3 → XP_006538988.1 pleckstrin homology domain-containing family G member 5 isoform X2

Conserved Domains (3) summary

smart00325
Location:440 → 626

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:683 → 781

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:172 → 246

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_006538923.4 → XP_006538986.1 pleckstrin homology domain-containing family G member 5 isoform X1

UniProtKB/TrEMBL

A0A5F8MPI8

Related

ENSMUSP00000158992.2, ENSMUST00000239025.2

Conserved Domains (3) summary

smart00325
Location:440 → 626

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:683 → 781

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:172 → 246

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_011250266.1 → XP_011248568.1 pleckstrin homology domain-containing family G member 5 isoform X4

Conserved Domains (3) summary

smart00325
Location:416 → 602

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:659 → 757

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:148 → 222

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_036164164.1 → XP_036020057.1 pleckstrin homology domain-containing family G member 5 isoform X6

Conserved Domains (3) summary

smart00325
Location:397 → 566

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:623 → 721

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:129 → 203

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_006538927.1 → XP_006538990.1 pleckstrin homology domain-containing family G member 5 isoform X5

Conserved Domains (3) summary

smart00325
Location:396 → 582

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:639 → 737

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:128 → 202

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins
XM_036164165.1 → XP_036020058.1 pleckstrin homology domain-containing family G member 5 isoform X8

Conserved Domains (3) summary

smart00325
Location:248 → 434

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd13244
Location:491 → 589

PH_PLEKHG5_G6; Pleckstrin homology domain-containing family G member 5 and 6 pleckstrin homology (PH) domain

cd17068
Location:1 → 54

RBD_PLEKHG5; Ras-binding domain (RBD) found in pleckstrin homology (PH) and RhoGEF domain containing G5 (PLEKHG5) and similar proteins

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001004156.2: Suppressed sequence

Description

NM_001004156.2: This RefSeq was permanently suppressed because the transcript retains an intron, which may represent a mutation specific to a brain tumor according to data in PMID:16467373.