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

Gene ID: 57480, updated on 5-Sep-2021

Summary

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
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
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

See PLEKHG1 in Genome Data Viewer
Location:
6q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (150599885..150843665)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (150921021..151164801)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9409 Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene PLEKHG1 intron CAGE-defined B cell enhancer Neighboring gene PDCL3 pseudogene 5 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like Neighboring gene RNA, U6 small nuclear 302, pseudogene Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
GeneReviews: Not available
Genome-wide association study of panic disorder in the Japanese population.
GeneReviews: Not available
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
GeneReviews: Not available
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
GeneReviews: Not available
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001029884.3NP_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
    Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Conserved Domains (2) summary
    cd13243
    Location:273418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117291
    RhoGEF; RhoGEF domain
  2. NM_001329798.2NP_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:332477
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00169
    Location:381474
    PH; PH domain
    pfam00621
    Location:176351
    RhoGEF; RhoGEF domain
  3. NM_001329799.2NP_001316728.1  pleckstrin homology domain-containing family G member 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339, AL450344
  4. NM_001329800.2NP_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
    Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Related
    ENSP00000496254.1, ENST00000644968.1
    Conserved Domains (2) summary
    cd13243
    Location:273418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117291
    RhoGEF; RhoGEF domain
  5. NM_001329801.2NP_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
    Q9ULL1
    UniProtKB/TrEMBL
    Q5JYA6
    Related
    ENSP00000351318.2, ENST00000358517.6
    Conserved Domains (2) summary
    cd13243
    Location:273418
    PH_PLEKHG1_G2_G3; Pleckstrin homology domain-containing family G members 1, 2, and 3 pleckstrin homology (PH) domain
    pfam00621
    Location:117291
    RhoGEF; RhoGEF domain
  6. NM_001329802.2NP_001316731.1  pleckstrin homology domain-containing family G member 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339
  7. NM_001329803.2NP_001316732.1  pleckstrin homology domain-containing family G member 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AL035086, AL450339
  8. NM_001329804.2NP_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_001329805.2NP_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_001329806.2NP_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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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