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

    Gene ID: 57480, updated on 2-Nov-2024

    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 and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 8.2), lymph node (RPKM 3.6) and 21 other tissues See more
    Orthologs
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150599885..150843665)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (151800395..152044215)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 17677 Neighboring gene Sharpr-MPRA regulatory region 13910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17679 Neighboring gene PLEKHG1 intron CAGE-defined B cell enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151037941-151038716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151038717-151039492 Neighboring gene uncharacterized LOC124901430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151063629-151064129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151063128-151063628 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:151074197-151074698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25278 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:151169980-151171179 Neighboring gene uncharacterized LOC124901431 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:151177675-151178874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17684 Neighboring gene PDCL3 pseudogene 5 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151227577-151228082 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:151243887-151244135 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 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 (35) citations in PubMed

    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 PLEKHG1 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 PLEKHG1.
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    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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    NEW Try the new Transcript table

    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
      Q5EBL9, 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
      UniProtKB/TrEMBL
      Q5EBL9
      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
      UniProtKB/TrEMBL
      Q5EBL9

    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
      Q5EBL9, 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
      Q5EBL9, 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
      UniProtKB/TrEMBL
      Q5EBL9

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

      Status: VALIDATED

      Source sequence(s)
      AL035086, AL450339
      UniProtKB/TrEMBL
      Q5EBL9

    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: 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

    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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