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].

DDHD domain containing 1MIM:614603Ensembl:ENSG00000100523HGNC:HGNC:19714PA13486144014q22.1

Gene Categories:


GO terms in DDHD1

Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0016042lipid catabolic process
BPIDAGO:0090141positive regulation of mitochondrial fission
MFIBAGO:0004620phospholipase activity
MFIEAGO:0046872metal ion binding

Gene expression in normal tissue: DDHD1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in DDHD1

DatabasePathway IDPathway Des.
reactomeR-HSA-1483166Synthesis of PA
reactomeR-HSA-1483206Glycerophospholipid biosynthesis
reactomeR-HSA-1483257Phospholipid metabolism
reactomeR-HSA-556833Metabolism of lipids

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in DDHD1