PlsCPhosphate acyltransferases | |
|---|---|
| SMART ACC: | SM000563 |
| Description: | Function in phospholipid biosynthesis and have either glycerolphosphate, 1-acylglycerolphosphate, or 2-acylglycerolphosphoethanolamine acyltransferase activities. Tafazzin, the product of the gene mutated in patients with Barth syndrome, is a member of this family. |
| InterPro ACC: | IPR002123 |
| InterPro abstract: | This family is found in diverse acyltransferases involved in phospholipid biosynthesis [ PUBMED:9259571 ]. This domain is found in tafazzins, phospholipid transacylases involved in the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation and whose defects cause of Barth syndrome; … expand |
| GO function: | acyltransferase activity (GO:0016746) |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 106 677 PlsC domains in 106 607 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing PlsC domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing PlsC domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Relevant references for this domain
Primary literature for the PlsC domain is listed below. Automatically-derived, secondary literature is also available.
Disease genes where sequence variants are found in this domain
UniRef sequences and OMIM curated human diseases associated with missense mutations within the PlsC domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| GNPAT_HUMAN | OMIM:602744 : Chondrodysplasia punctata, rhizomelic, type 2 | |
| OMIM:222765 : no description |
KEGG pathways involving proteins which contain this domain
This information is based on the mapping of SMART genomic protein database to KEGG orthologous groups. Percentages are related to the number of proteins containing a PlsC domain which could be assigned to a KEGG orthologous group, and not all proteins containing PlsC domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.
KEGG pathways
KEGG orthologous groups
3D structures in PDB containing this domain
Links to other resources describing this domain
| InterPro | IPR002123 |
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