======= DDHD1 ======= == Gene Information == * **Official Symbol**: DDHD1 * **Official Name**: DDHD domain containing 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80821|80821]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8NEL9|Q8NEL9]] * **Interactions**: [[https://thebiogrid.org/search.php?search=DDHD1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DDHD1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/614603|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity. {ECO:0000269|PubMed:22922100}. |DDHD| |positive regulation of mitochondrial fission| |phospholipase activity| |regulation of mitochondrial fission| |phosphatidic acid biosynthetic process| |phosphatidic acid metabolic process| |positive regulation of mitochondrion organization| |regulation of mitochondrion organization| |glycerophospholipid biosynthetic process| |glycerolipid biosynthetic process| |phospholipid biosynthetic process| |lipid catabolic process| |glycerophospholipid metabolic process| |phospholipid metabolic process| |glycerolipid metabolic process| |organophosphate biosynthetic process| |lipid biosynthetic process| |positive regulation of organelle organization| |organophosphate metabolic process| |cellular lipid metabolic process| |regulation of anatomical structure morphogenesis| |positive regulation of cellular component organization| |lipid metabolic process| |regulation of organelle organization| |positive regulation of developmental process| |organic substance catabolic process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 4660 * **Expression level (log2 read counts)**: 6.74 {{:chemogenomics:nalm6 dist.png?nolink |}}