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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]
PLCXD1 (Phosphatidylinositol Specific Phospholipase C X Domain Containing 1) is a Protein Coding gene. Diseases associated with PLCXD1 include Mongolian Spot. Gene Ontology (GO) annotations related to this gene include phosphoric diester hydrolase activity. An important paralog of this gene is PLCXD3.
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.
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 | 600.7 | +0.3 | 345 | 3.8 | CREB1 GATAD2A TFE3 IKZF1 TARDBP LARP7 ZIC2 RBFOX2 PKNOX1 RXRB | PLCXD1 piR-48389-025 GTPBP6 | |
GH0XJ000278 | Promoter/Enhancer | 1.2 | Ensembl dbSUPER | 0.7 | +2.8 | 2845 | 0.4 | GATAD2A ATF7 TFE3 LEF1 SOX13 JUND MTA2 RBFOX2 REST IRF2 | PLCXD1 piR-48389-025 GTPBP6 | |
GH0XJ000280 | Promoter/Enhancer | 1.8 | Ensembl CraniofacialAtlas dbSUPER | 0.4 | +5.7 | 5744 | 5 | SP1 HNRNPL CREB1 ATF7 PRDM10 IKZF1 JUND PRDM1 DDX20 ZIC2 | piR-48389-025 GTPBP6 PLCXD1 | |
GH0XJ000271 | Promoter/Enhancer | 1.1 | Ensembl dbSUPER | 0.7 | -4.2 | -4155 | 2 | HNRNPL GATAD2A TFE3 RBFOX2 RXRB ZKSCAN8 KAT7 TFDP1 MIER3 GABPB1 | PLCXD1 piR-32287-163 | |
GH0XJ000270 | Promoter/Enhancer | 0.9 | Ensembl dbSUPER | 0.4 | -5.6 | -5555 | 0.4 | KAT7 MXD4 HOMEZ TFAP4 ARID4B TEAD3 ZNF48 KLF1 ELF1 ERF | PLCXD1 piR-32287-163 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008081 | phosphoric diester hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Phosphatidylinositol-3,4,5-trisphosphate |
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PI(16:0/16:0) |
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PI(16:0/16:1(9Z)) |
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PI(16:0/16:2(9Z,12Z)) |
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PI(16:0/18:0) |
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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 |
Compound | Action | Cas Number |
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D609 | PC-PLC inhibitor | 83373-60-8 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | PLCXD1 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | PLCXD1 31 |
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OneToMany | |
-- 31 |
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OneToMany | |||
-- 31 |
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OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | PLCXD1 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100909600 30 |
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Mouse (Mus musculus) |
Mammalia | Plcxd1 31 |
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OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PLCXD1 31 |
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OneToOne | |
Chicken (Gallus gallus) |
Aves | PLCXD1 30 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PLCXD1 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plcxd1 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC563489 30 |
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PLCXD1 31 |
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OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10747 31 |
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OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F38E9.1 31 |
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OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
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mongolian spot |
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