Aliases for PLEKHG1 Gene

Aliases for PLEKHG1 Gene

  • Pleckstrin Homology And RhoGEF Domain Containing G1 2 3 5
  • Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 1 2 3
  • Pleckstrin Homology Domain-Containing Family G Member 1 3 4
  • ARHGEF41 2 3
  • KIAA1209 2 4
  • PLEKHG1 5

External Ids for PLEKHG1 Gene

Previous GeneCards Identifiers for PLEKHG1 Gene

  • GC06P150997
  • GC06P151073
  • GC06P151013
  • GC06P150920
  • GC06P148515

Summaries for PLEKHG1 Gene

GeneCards Summary for PLEKHG1 Gene

PLEKHG1 (Pleckstrin Homology And RhoGEF Domain Containing G1) is a Protein Coding gene. Diseases associated with PLEKHG1 include Panic Disorder. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is TRIO.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHG1 Gene

Genomics for PLEKHG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLEKHG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHG1

Top Transcription factor binding sites by QIAGEN in the PLEKHG1 gene promoter:
  • aMEF-2
  • AML1a
  • C/EBPalpha
  • E47
  • MEF-2
  • MEF-2A
  • p53

Genomic Locations for PLEKHG1 Gene

Latest Assembly
chr6:150,599,883-150,843,665
(GRCh38/hg38)
Size:
243,783 bases
Orientation:
Plus strand

Previous Assembly
chr6:150,921,021-151,164,801
(GRCh37/hg19 by Entrez Gene)
Size:
243,781 bases
Orientation:
Plus strand

chr6:150,920,999-151,164,799
(GRCh37/hg19 by Ensembl)
Size:
243,801 bases
Orientation:
Plus strand

Genomic View for PLEKHG1 Gene

Genes around PLEKHG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHG1 Gene

Proteins for PLEKHG1 Gene

  • Protein details for PLEKHG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULL1-PKHG1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family G member 1
    Protein Accession:
    Q9ULL1
    Secondary Accessions:
    • Q5T1F2

    Protein attributes for PLEKHG1 Gene

    Size:
    1385 amino acids
    Molecular mass:
    155439 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLEKHG1 Gene

Post-translational modifications for PLEKHG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PLEKHG1 Gene

Domains & Families for PLEKHG1 Gene

Gene Families for PLEKHG1 Gene

Protein Domains for PLEKHG1 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain

Suggested Antigen Peptide Sequences for PLEKHG1 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family G member 1 (PKHG1_HUMAN)
  • PLEKHG1 protein (Q5EBL9_HUMAN)
  • Pleckstrin homology domain containing, family G (With RhoGef domain) member 1, isoform CRA_a (Q5JYA6_HUMAN)
genes like me logo Genes that share domains with PLEKHG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHG1 Gene

Function for PLEKHG1 Gene

Phenotypes From GWAS Catalog for PLEKHG1 Gene

Gene Ontology (GO) - Molecular Function for PLEKHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with PLEKHG1: view
genes like me logo Genes that share phenotypes with PLEKHG1: view

Animal Models for PLEKHG1 Gene

MGI Knock Outs for PLEKHG1:
  • Plekhg1 Plekhg1<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLEKHG1 Gene

Localization for PLEKHG1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHG1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEKHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with PLEKHG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLEKHG1 Gene

Pathways & Interactions for PLEKHG1 Gene

PathCards logo

SuperPathways for PLEKHG1 Gene

No Data Available

Interacting Proteins for PLEKHG1 Gene

SIGNOR curated interactions for PLEKHG1 Gene

Activates:

Gene Ontology (GO) - Biological Process for PLEKHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PLEKHG1: view

No data available for Pathways by source for PLEKHG1 Gene

Drugs & Compounds for PLEKHG1 Gene

No Compound Related Data Available

Transcripts for PLEKHG1 Gene

mRNA/cDNA for PLEKHG1 Gene

10 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHG1

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG1 Gene

No ASD Table

Relevant External Links for PLEKHG1 Gene

GeneLoc Exon Structure for
PLEKHG1

Expression for PLEKHG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHG1 Gene

This gene is overexpressed in Plasma (45.8) and Prostate (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLEKHG1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHG1

SOURCE GeneReport for Unigene cluster for PLEKHG1 Gene:

Hs.189781

Evidence on tissue expression from TISSUES for PLEKHG1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PLEKHG1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHG1 Gene

Orthologs for PLEKHG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLEKHG1 29 30
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLEKHG1 29 30
  • 86.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLEKHG1 29 30
  • 83.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plekhg1 29
  • 81.96 (n)
Mouse
(Mus musculus)
Mammalia Plekhg1 29 16 30
  • 80.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLEKHG1 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHG1 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLEKHG1 29 30
  • 68.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLEKHG1 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plekhg1 29
  • 60.93 (n)
Str.4007 29
Zebrafish
(Danio rerio)
Actinopterygii LOC101886810 29
  • 70.65 (n)
PLEKHG1 30
  • 56 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta GEFmeso 30
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea uig-1 30
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToMany
Species where no ortholog for PLEKHG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLEKHG1 Gene

ENSEMBL:
Gene Tree for PLEKHG1 (if available)
TreeFam:
Gene Tree for PLEKHG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHG1: view image
Alliance of Genome Resources:
Additional Orthologs for PLEKHG1

Paralogs for PLEKHG1 Gene

(2) SIMAP similar genes for PLEKHG1 Gene using alignment to 5 proteins:

  • PKHG1_HUMAN
  • H0YD71_HUMAN
  • Q5EBL9_HUMAN
  • Q5JYA6_HUMAN
  • Q5T1F3_HUMAN
genes like me logo Genes that share paralogs with PLEKHG1: view

Variants for PLEKHG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHG1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs193920959 Uncertain Significance: Malignant tumor of prostate 150,831,404(+) C/T
NM_001029884.3(PLEKHG1):c.2293C>T (p.Arg765Trp)
MISSENSE_VARIANT,INTRON
rs17054318 -- p.Leu1321Ser
rs17080381 -- p.Gln787Arg
rs17080410 -- p.Val1071Ala
rs58786678 -- p.Gln1377Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLEKHG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PLEKHG1 Gene

Variant ID Type Subtype PubMed ID
dgv10964n54 CNV gain 21841781
esv1000462 CNV deletion 20482838
esv2086893 CNV deletion 18987734
esv2292678 CNV deletion 18987734
esv2664886 CNV deletion 23128226
esv2732887 CNV deletion 23290073
esv2732888 CNV deletion 23290073
esv3436812 CNV duplication 20981092
esv3540635 CNV deletion 23714750
esv3571466 CNV loss 25503493
esv3611236 CNV loss 21293372
esv3611237 CNV loss 21293372
nsv1021285 CNV gain 25217958
nsv1077479 CNV duplication 25765185
nsv1109825 CNV deletion 24896259
nsv1115727 CNV duplication 24896259
nsv437526 CNV loss 16327808
nsv464080 CNV loss 19166990
nsv522403 CNV loss 19592680
nsv5539 CNV insertion 18451855
nsv604851 CNV loss 21841781
nsv969457 CNV duplication 23825009

Variation tolerance for PLEKHG1 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.33; 70.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHG1
Leiden Open Variation Database (LOVD)
PLEKHG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHG1 Gene

Disorders for PLEKHG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHG1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
panic disorder
  • panic anxiety syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PLEKHG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHG1 Gene

Publications for PLEKHG1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (PMID: 22488850) Zuo L … Luo X (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012) 3 40
  3. Polymorphisms in predicted miRNA binding sites and osteoporosis. (PMID: 20641033) Lei SF … Deng HW (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011) 3 40
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T … Okazaki Y (Journal of human genetics 2009) 3 40

Products for PLEKHG1 Gene

Sources for PLEKHG1 Gene