This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] See more...

Aliases for PLCXD1 Gene

Aliases for PLCXD1 Gene

  • Phosphatidylinositol Specific Phospholipase C X Domain Containing 1 2 3 5
  • PI-PLC X Domain-Containing Protein 1 3 4
  • Phosphatidylinositol-Specific Phospholipase C, X Domain Containing 1 2
  • LL0XNC01-136G2.1 3
  • FLJ11323 2
  • PLCXD1 5

External Ids for PLCXD1 Gene

Previous GeneCards Identifiers for PLCXD1 Gene

  • GC0YP000133
  • GC0XP000132
  • GC0XP000192

Summaries for PLCXD1 Gene

Entrez Gene Summary for PLCXD1 Gene

  • This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for PLCXD1 Gene

PLCXD1 (Phosphatidylinositol Specific Phospholipase C X Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphoric diester hydrolase activity. An important paralog of this gene is PLCXD2.

Tocris Summary for PLCXD1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLCXD1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCXD1 Gene

Genomics for PLCXD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCXD1 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
GH0XJ000275 Promoter/Enhancer 1.2 Ensembl dbSUPER 250.7 +0.6 645 3.6 ZBTB10 MXD4 IKZF1 ZNF217 BHLHE40 ZIC2 THAP11 SIN3A SMAD4 SAP130 PLCXD1 piR-48389-025 GTPBP6
GH0XJ000278 Promoter/Enhancer 1.8 Ensembl CraniofacialAtlas dbSUPER 0.4 +5.3 5345 5.4 CHD2 TBP SP1 CEBPA MNT IKZF1 SMAD5 BHLHE40 ZEB1 ELF1 piR-48389-025 GTPBP6 PLCXD1
GH0XJ000267 Promoter/Enhancer 1 Ensembl dbSUPER 0.4 -6.9 -6855 3 MXD4 HOMEZ KLF7 TEAD3 SP2 KAT7 ZNF48 TFAP4 KLF1 ARID4B PLCXD1 piR-32287-163
GH0XJ000264 Enhancer 0.8 Ensembl 0.4 -11.3 -11255 0.6 CEBPA FOXA2 SMAD4 SAP130 RXRA RARA ZBTB33 THRB JUND CREM piR-32287-163 PLCXD1
GH0XJ000285 Enhancer 0.5 Ensembl 0.4 +9.1 9145 0.2 FOXA2 PAX8 HMG20A KDM1A ZNF18 ZNF184 MNT POLR2A SSRP1 lnc-SHOX-4 piR-34822-336 PLCXD1 GTPBP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCXD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCXD1

Top Transcription factor binding sites by QIAGEN in the PLCXD1 gene promoter:
  • AREB6
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for PLCXD1 Gene

Latest Assembly
chrX:276,356-303,356
(GRCh38/hg38)
Size:
27,001 bases
Orientation:
Plus strand

Previous Assembly
chrX:193,023-220,023
(GRCh37/hg19 by Entrez Gene)
Size:
27,001 bases
Orientation:
Plus strand

chrX:192,989-220,023
(GRCh37/hg19 by Ensembl)
Size:
27,035 bases
Orientation:
Plus strand

Genomic View for PLCXD1 Gene

Genes around PLCXD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCXD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCXD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCXD1 Gene

Proteins for PLCXD1 Gene

  • Protein details for PLCXD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUJ7-PLCX1_HUMAN
    Recommended name:
    PI-PLC X domain-containing protein 1
    Protein Accession:
    Q9NUJ7
    Secondary Accessions:
    • A2BH51
    • A2BH52

    Protein attributes for PLCXD1 Gene

    Size:
    323 amino acids
    Molecular mass:
    36668 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

neXtProt entry for PLCXD1 Gene

Post-translational modifications for PLCXD1 Gene

  • Ubiquitination at Lys227
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for PLCXD1
  • Boster Bio Antibodies for PLCXD1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLCXD1

No data available for DME Specific Peptides for PLCXD1 Gene

Domains & Families for PLCXD1 Gene

Gene Families for PLCXD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLCXD1 Gene

Suggested Antigen Peptide Sequences for PLCXD1 Gene

GenScript: Design optimal peptide antigens:
  • PI-PLC X domain-containing protein 1 (PLCX1_HUMAN)
genes like me logo Genes that share domains with PLCXD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCXD1 Gene

Function for PLCXD1 Gene

Gene Ontology (GO) - Molecular Function for PLCXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCXD1: view
genes like me logo Genes that share phenotypes with PLCXD1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for PLCXD1

miRNA for PLCXD1 Gene

miRTarBase miRNAs that target PLCXD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCXD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLCXD1 Gene

Localization for PLCXD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCXD1 Gene

Cytoplasm.

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 PLCXD1 gene
Compartment Confidence
cytosol 3
extracellular 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PLCXD1: view

Pathways & Interactions for PLCXD1 Gene

PathCards logo

SuperPathways for PLCXD1 Gene

No Data Available

Interacting Proteins for PLCXD1 Gene

Gene Ontology (GO) - Biological Process for PLCXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with PLCXD1: view

No data available for Pathways by source and SIGNOR curated interactions for PLCXD1 Gene

Drugs & Compounds for PLCXD1 Gene

(2) Drugs for PLCXD1 Gene - From: ApexBio and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D609 Pharma PC-PLC inhibitor 0
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

(383) Additional Compounds for PLCXD1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphoric acid
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(32:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1W7)
PI(16:0/16:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoic acid
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phosphoinositol
PI(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phospho-D-myo-inositol
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
182509-29-1

(5) Tocris Compounds for PLCXD1 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7

(1) ApexBio Compounds for PLCXD1 Gene

Compound Action Cas Number
D609 PC-PLC inhibitor 83373-60-8
genes like me logo Genes that share compounds with PLCXD1: view

Drug products for research

Transcripts for PLCXD1 Gene

mRNA/cDNA for PLCXD1 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 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 PLCXD1

Alternative Splicing Database (ASD) splice patterns (SP) for PLCXD1 Gene

No ASD Table

Relevant External Links for PLCXD1 Gene

GeneLoc Exon Structure for
PLCXD1

Expression for PLCXD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLCXD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLCXD1

SOURCE GeneReport for Unigene cluster for PLCXD1 Gene:

Hs.522568

mRNA Expression by UniProt/SwissProt for PLCXD1 Gene:

Q9NUJ7-PLCX1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PLCXD1 Gene

  • Skin(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with PLCXD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCXD1 Gene

Orthologs for PLCXD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCXD1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia PLCXD1 30 31
  • 82.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLCXD1 31
  • 80 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia PLCXD1 31
  • 75 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100909600 30
  • 74.61 (n)
Mouse
(Mus musculus)
Mammalia Plcxd1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLCXD1 31
  • 33 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLCXD1 30 31
  • 61.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLCXD1 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plcxd1 30
  • 55.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC563489 30
  • 55.56 (n)
PLCXD1 31
  • 47 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10747 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F38E9.1 31
  • 13 (a)
OneToMany
Species where no ortholog for PLCXD1 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)
  • Chimpanzee (Pan troglodytes)
  • 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 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)

Evolution for PLCXD1 Gene

ENSEMBL:
Gene Tree for PLCXD1 (if available)
TreeFam:
Gene Tree for PLCXD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLCXD1: view image

Paralogs for PLCXD1 Gene

Paralogs for PLCXD1 Gene

(2) SIMAP similar genes for PLCXD1 Gene using alignment to 3 proteins:

  • PLCX1_HUMAN
  • C9JP92_HUMAN
  • K7EIC3_HUMAN

Pseudogenes.org Pseudogenes for PLCXD1 Gene

genes like me logo Genes that share paralogs with PLCXD1: view

Variants for PLCXD1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLCXD1 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 PLCXD1 Gene

Variant ID Type Subtype PubMed ID
dgv4187n106 CNV deletion 24896259
esv1006189 CNV deletion 20482838
esv2658490 CNV deletion 23128226
esv2663649 CNV deletion 23128226
esv27600 CNV gain+loss 19812545
esv2969346 CNV duplication 24192839
esv3382952 CNV duplication 20981092
nsv1075293 CNV deletion 25765185
nsv1076233 CNV deletion 25765185
nsv1077604 CNV duplication 25765185
nsv1125140 CNV duplication 24896259
nsv1132797 CNV duplication 24896259
nsv1137704 CNV deletion 24896259
nsv1140084 CNV duplication 24896259
nsv1147800 CNV duplication 26484159
nsv1153299 CNV duplication 26484159

Variation tolerance for PLCXD1 Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCXD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCXD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCXD1 Gene

Disorders for PLCXD1 Gene

Additional Disease Information for PLCXD1

No disorders were found for PLCXD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLCXD1 Gene

Publications for PLCXD1 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. (PMID: 31753913) Kim JJ … Miller KM (Genes & development 2019) 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for PLCXD1 Gene

Sources for PLCXD1 Gene