DDHD1
Summary: This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:614603 Ensembl IDEnsembl:ENSG00000100523 HGNC IDHGNC:HGNC:19714 PHARMGKB IDPA134861440 Map Location14q22.1 | |||||
Gene Categories:
PHOSPHOLIPASEGO terms in DDHD1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| BP | IEA | GO:0016042 | lipid catabolic process |
| BP | IDA | GO:0090141 | positive regulation of mitochondrial fission |
| MF | IBA | GO:0004620 | phospholipase activity |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: DDHD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DDHD1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1483166 | Synthesis of PA |
| reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DDHD1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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