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UniProt functional annotation for Q01970 | ||
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| UniProt code: Q01970. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. {ECO:0000269|PubMed:29122926, ECO:0000269|PubMed:9188725}. |
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| Catalytic activity: | |
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5- bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2- diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=3.1.4.11; Evidence={ECO:0000269|PubMed:9188725}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33180; Evidence={ECO:0000305|PubMed:9188725}; |
| Catalytic activity: | |
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 1D-myo-inositol 1-phosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:43484, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:57880, ChEBI:CHEBI:58433; Evidence={ECO:0000250|UniProtKB:Q99JE6}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43485; Evidence={ECO:0000250|UniProtKB:Q99JE6}; |
| Cofactor: | |
Name=Ca(2+); Xref=ChEBI:CHEBI:29108; |
| Subunit: | |
Interacts with SHANK2 (By similarity). Interacts with LPAR2 (PubMed:15143197). {ECO:0000250|UniProtKB:Q99JE6, ECO:0000269|PubMed:15143197}. |
| Subcellular location: | |
Cytoplasm {ECO:0000269|PubMed:29122926}. Membrane {ECO:0000250|UniProtKB:Q99JE6}. Nucleus {ECO:0000250|UniProtKB:P51432}. Note=And particulate fractions. {ECO:0000250|UniProtKB:Q99JE6}. |
| Disease: | |
Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) [MIM:618961]: An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. {ECO:0000269|PubMed:29122926}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Sequence caution: | |
Sequence=AAH32659.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.