Aliases for PLEKHJ1 Gene

Aliases for PLEKHJ1 Gene

  • Pleckstrin Homology Domain Containing J1 2 3 5
  • Pleckstrin Homology Domain-Containing Family J Member 1 3 4
  • Guanine Nucleotide Releasing Protein X 2 3
  • PH Domain-Containing Family J Member 1 3 4
  • GNRPX 3 4
  • Pleckstrin Homology Domain Containing, Family J Member 1 2
  • Guanine Nucleotide-Releasing Protein X 4

External Ids for PLEKHJ1 Gene

Previous GeneCards Identifiers for PLEKHJ1 Gene

  • GC19M002185
  • GC19M002186
  • GC19M002004

Summaries for PLEKHJ1 Gene

GeneCards Summary for PLEKHJ1 Gene

PLEKHJ1 (Pleckstrin Homology Domain Containing J1) is a Protein Coding gene. An important paralog of this gene is PHETA1.

Additional gene information for PLEKHJ1 Gene

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 PLEKHJ1 Gene

Genomics for PLEKHJ1 Gene

GeneHancer (GH) Regulatory Elements for PLEKHJ1 Gene

Promoters and enhancers for PLEKHJ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J002234 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 761.2 -1.7 -1710 10.8 ZNF24 ZBTB40 CTCF ZBTB6 MLX RBPJ SMARCE1 POLR2A USF2 HCFC1 SF3A2 PLEKHJ1 DAZAP1 AMH ZNF77 TCF3 LOC100288123 CIRBP AP3D1 ZNF554
GH19J002160 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 +70.0 69964 13.7 GTF3C2 ZNF785 ZNF24 ZBTB40 SP1 CTCF SIX5 ZBTB6 FOXA1 MLX DOT1L SF3A2 DAZAP1 TCF3 LOC100288123 ZNF77 CIRBP ENSG00000267317 LMNB2 GADD45B
GH19J002149 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +87.0 86965 3.7 SP1 ZBTB40 MLX SMARCE1 POLR2A USF2 ATF1 CREB1 NFYC ELF1 AP3D1 DAZAP1 SF3A2 ZNF77 APC2 CBARP BTBD2 ENSG00000261342 CIRBP AMH
GH19J002255 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 12.8 -20.0 -20016 6.6 RBPJ ZNF362 ZNF121 ZNF280D MAFK TFE3 MLLT1 SP7 ZNF687 PRDM1 MIR1227 PLEKHJ1 SF3A2 PEAK3 JSRP1 piR-35674-239 MIR4321
GH19J002181 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +55.5 55503 2.4 MLLT1 ZNF687 CREM IKZF1 TRIM22 IKZF2 ZNF143 EED ELF1 RUNX3 PLEKHJ1 IZUMO4 AP3D1 KLF16 HSALNG0123133 DOT1L ENSG00000267122
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHJ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHJ1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GATA-1
  • MyoD
  • NF-kappaB1
  • p53
  • Spz1
  • SREBP-1a

Genomic Locations for PLEKHJ1 Gene

Genomic Locations for PLEKHJ1 Gene
chr19:2,229,952-2,237,704
(GRCh38/hg38)
Size:
7,753 bases
Orientation:
Minus strand
chr19:2,230,002-2,237,703
(GRCh37/hg19)
Size:
7,702 bases
Orientation:
Minus strand

Genomic View for PLEKHJ1 Gene

Genes around PLEKHJ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHJ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHJ1 Gene

Proteins for PLEKHJ1 Gene

  • Protein details for PLEKHJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW61-PKHJ1_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family J member 1
    Protein Accession:
    Q9NW61
    Secondary Accessions:
    • B3KUQ9
    • D6W604

    Protein attributes for PLEKHJ1 Gene

    Size:
    149 amino acids
    Molecular mass:
    17551 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PLEKHJ1 Gene

Post-translational modifications for PLEKHJ1 Gene

  • Ubiquitination at Lys6
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PLEKHJ1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLEKHJ1

No data available for DME Specific Peptides for PLEKHJ1 Gene

Domains & Families for PLEKHJ1 Gene

Gene Families for PLEKHJ1 Gene

Protein Domains for PLEKHJ1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHJ1 Gene

GenScript: Design optimal peptide antigens:
  • Guanine nucleotide-releasing protein x (PKHJ1_HUMAN)
genes like me logo Genes that share domains with PLEKHJ1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHJ1 Gene

Function for PLEKHJ1 Gene

Phenotypes From GWAS Catalog for PLEKHJ1 Gene

genes like me logo Genes that share phenotypes with PLEKHJ1: view

Animal Model Products

CRISPR Products

miRNA for PLEKHJ1 Gene

miRTarBase miRNAs that target PLEKHJ1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHJ1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHJ1 Gene

Localization for PLEKHJ1 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 PLEKHJ1 gene
Compartment Confidence
endosome 3
cytosol 3
golgi apparatus 3
mitochondrion 2
nucleus 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLEKHJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IBA 21873635
GO:0005802 trans-Golgi network IBA 21873635
GO:0005829 cytosol IEA --
GO:0055037 recycling endosome IBA 21873635
genes like me logo Genes that share ontologies with PLEKHJ1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLEKHJ1 Gene

Pathways & Interactions for PLEKHJ1 Gene

PathCards logo

SuperPathways for PLEKHJ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IBA 21873635
GO:0007032 endosome organization IBA 21873635
GO:0042147 retrograde transport, endosome to Golgi IBA 21873635
genes like me logo Genes that share ontologies with PLEKHJ1: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHJ1 Gene

Drugs & Compounds for PLEKHJ1 Gene

No Compound Related Data Available

Transcripts for PLEKHJ1 Gene

mRNA/cDNA for PLEKHJ1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEKHJ1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHJ1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
SP1: - - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - -
SP7:
SP8:
SP9:

Relevant External Links for PLEKHJ1 Gene

GeneLoc Exon Structure for
PLEKHJ1
ECgene alternative splicing isoforms for
PLEKHJ1

Expression for PLEKHJ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHJ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHJ1 Gene

This gene is overexpressed in Ovary (39.9) and Platelet (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEKHJ1 Gene



Protein tissue co-expression partners for PLEKHJ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLEKHJ1 Gene:

PLEKHJ1

SOURCE GeneReport for Unigene cluster for PLEKHJ1 Gene:

Hs.501353

mRNA Expression by UniProt/SwissProt for PLEKHJ1 Gene:

Q9NW61-PKHJ1_HUMAN
Tissue specificity: Expressed in testis and liver.

Evidence on tissue expression from TISSUES for PLEKHJ1 Gene

  • Muscle(4.3)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with PLEKHJ1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHJ1 Gene

Orthologs for PLEKHJ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEKHJ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHJ1 33 32
  • 99.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHJ1 33 32
  • 88.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhj1 32
  • 86.39 (n)
mouse
(Mus musculus)
Mammalia Plekhj1 17 33 32
  • 86.17 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHJ1 33
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHJ1 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHJ1 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHJ1 33 32
  • 79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHJ1 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhj1 32
  • 71.53 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537951 32
  • 68.49 (n)
plekhj1 33
  • 64 (a)
OneToOne
Species where no ortholog for PLEKHJ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLEKHJ1 Gene

ENSEMBL:
Gene Tree for PLEKHJ1 (if available)
TreeFam:
Gene Tree for PLEKHJ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHJ1: view image

Paralogs for PLEKHJ1 Gene

Paralogs for PLEKHJ1 Gene

(1) SIMAP similar genes for PLEKHJ1 Gene using alignment to 5 proteins:

  • PKHJ1_HUMAN
  • K7EIW9_HUMAN
  • K7EIZ3_HUMAN
  • K7ERH2_HUMAN
  • K7ERW3_HUMAN
genes like me logo Genes that share paralogs with PLEKHJ1: view

Variants for PLEKHJ1 Gene

Sequence variations from dbSNP and Humsavar for PLEKHJ1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000189595 -- 2,231,792(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000622553 -- 2,238,022(-) G/C upstream_transcript_variant
rs1000720009 -- 2,237,005(-) G/C upstream_transcript_variant
rs1000978758 -- 2,230,011(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000979992 -- 2,237,137(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHJ1 Gene

Variant ID Type Subtype PubMed ID
dgv6218n54 CNV loss 21841781
nsv2389 CNV insertion 18451855
nsv578382 CNV loss 21841781
nsv578383 CNV loss 21841781
nsv828394 CNV gain 20364138
nsv828395 CNV loss 20364138
nsv833706 CNV loss 17160897
nsv833707 CNV loss 17160897
nsv953943 CNV deletion 24416366

Variation tolerance for PLEKHJ1 Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHJ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHJ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHJ1 Gene

Disorders for PLEKHJ1 Gene

Additional Disease Information for PLEKHJ1

No disorders were found for PLEKHJ1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLEKHJ1 Gene

Publications for PLEKHJ1 Gene

  1. An expressed GNRP-like gene shares a bi-directional promoter with SF3A2 (SAP62) immediately upstream of AMH. (PMID: 11602354) Dresser DW … Guerrier D (Gene 2001) 2 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 56
  5. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A … Wanker EE (Science signaling 2011) 3 56

Products for PLEKHJ1 Gene

Sources for PLEKHJ1 Gene