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PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 [ Homo sapiens (human) ]

Gene ID: 57480, updated on 24-Nov-2022

Summary

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Official Symbol
PLEKHG1provided by HGNC
Official Full Name
pleckstrin homology and RhoGEF domain containing G1provided by HGNC
Primary source
HGNC:HGNC:20884
See related
Ensembl:ENSG00000120278 MIM:620134; AllianceGenome:HGNC:20884
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
Also known as
ARHGEF41
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 8.2), lymph node (RPKM 3.6) and 21 other tissues See more
Orthologs
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Genomic context

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See PLEKHG1 in Genome Data Viewer
Location:
6q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150599885..150843665)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151800395..152044215)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150921021..151164801)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene uncharacterized LOC124901429 Neighboring gene Sharpr-MPRA regulatory region 13910 Neighboring gene PLEKHG1 intron CAGE-defined B cell enhancer Neighboring gene uncharacterized LOC124901430 Neighboring gene uncharacterized LOC124901431 Neighboring gene PDCL3 pseudogene 5 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 5

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. Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n = 11,226). Traylor M, et al. Neurology, 2019 Feb 19. PMID 30659137, Free PMC Article
  2. Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1. Gray KJ, et al. Hypertension, 2018 Aug. PMID 29967039, Free PMC Article
  3. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Franceschini N, et al. Am J Hum Genet, 2013 Sep 5. PMID 23972371, Free PMC Article
  4. Polymorphisms in predicted miRNA binding sites and osteoporosis. Lei SF, et al. J Bone Miner Res, 2011 Jan. PMID 20641033, Free PMC Article
  5. Gene expression analysis of a panel of cell lines that differentially restrict HIV-1 CA mutants infection in a cyclophilin a-dependent manner. Shah VB, et al. PLoS One, 2014. PMID 24663101, Free PMC Article

See all (30) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic variation in PLEKHG1 is associated with white matter hyperintensities and ischemic stroke, most strongly with the small vessel subtype, suggesting it acts by promoting small vessel arteriopathy.
    Title: Genetic variation in <i>PLEKHG1</i> is associated with white matter hyperintensities (n = 11,226).
  2. PLEKHG1 rs9478812 variant substantially increases risk of preeclampsia.
    Title: Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at <i>PLEKHG1</i>.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in predicted miRNA binding sites and osteoporosis.
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
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
EBI GWAS Catalog
Genome-wide association study of panic disorder in the Japanese population.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
EBI GWAS Catalog
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
capsid gag Depletion of the PLEKHG1 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31738, KIAA1209

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
pleckstrin homology domain-containing family G member 1
Names
pleckstrin homology domain containing, family G (with RhoGef domain) member 1

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

  1. NG_051299.1 RefSeqGene

    Range
    5023..248803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029884.3 → NP_001025055.1  pleckstrin homology domain-containing family G member 1 isoform c

    See identical proteins and their annotated locations for NP_001025055.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 4 and 5, encodes isoform c.
    Source sequence(s)
    AL035086, AL450339, AL450344
    Consensus CDS
    CCDS34552.1
    UniProtKB/Swiss-Prot
    Q5T1F2, Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Related
    ENSP00000512689.1, ENST00000696526.1
    Conserved Domains (2) summary
    cd13243
    Location:273 → 418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117 → 291
    RhoGEF; RhoGEF domain

  2. NM_001329798.2 → NP_001316727.1  pleckstrin homology domain-containing family G member 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL035086, AL450339, AL450344
    Conserved Domains (3) summary
    cd13243
    Location:332 → 477
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:381 → 474
    PH; PH domain
    pfam00621
    Location:176 → 351
    RhoGEF; RhoGEF domain

  3. NM_001329799.2 → NP_001316728.1  pleckstrin homology domain-containing family G member 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339, AL450344

  4. NM_001329800.2 → NP_001316729.1  pleckstrin homology domain-containing family G member 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform c.
    Source sequence(s)
    AL035086, AL450339, AL450344
    Consensus CDS
    CCDS34552.1
    UniProtKB/Swiss-Prot
    Q5T1F2, Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Related
    ENSP00000496254.1, ENST00000644968.1
    Conserved Domains (2) summary
    cd13243
    Location:273 → 418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117 → 291
    RhoGEF; RhoGEF domain

  5. NM_001329801.2 → NP_001316730.1  pleckstrin homology domain-containing family G member 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform c.
    Source sequence(s)
    AL035086, AL450339
    Consensus CDS
    CCDS34552.1
    UniProtKB/Swiss-Prot
    Q5T1F2, Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Related
    ENSP00000351318.2, ENST00000358517.6
    Conserved Domains (2) summary
    cd13243
    Location:273 → 418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117 → 291
    RhoGEF; RhoGEF domain

  6. NM_001329802.2 → NP_001316731.1  pleckstrin homology domain-containing family G member 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339

  7. NM_001329803.2 → NP_001316732.1  pleckstrin homology domain-containing family G member 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339

  8. NM_001329804.2 → NP_001316733.1  pleckstrin homology domain-containing family G member 1 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform f.
    Source sequence(s)
    AL035086, AL450339, AL450344

  9. NM_001329805.2 → NP_001316734.1  pleckstrin homology domain-containing family G member 1 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform f.
    Source sequence(s)
    AL035086, AL450339, AL450344

  10. NM_001329806.2 → NP_001316735.1  pleckstrin homology domain-containing family G member 1 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform f.
    Source sequence(s)
    AL035086, AL450339

RNA

  1. NR_138136.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL450344
    Related
    ENST00000643446.1

  2. NR_138137.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL450344

  3. NR_138138.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL450344

  4. NR_138139.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL450344

  5. NR_138140.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL450344

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    150599885..150843665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    151800395..152044215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULL1.2 GenPept UniProtKB/Swiss-Prot:Q9ULL1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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