Version 5.4
Homo sapiens Protein: DDHD1
Summary
InnateDB Protein IDBP-6950.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DDHD1
Protein Name DDHD domain containing 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000327104
InnateDB Gene IDBG-6946 (DDHD1)
Protein Structure
UniProt Annotation
Function Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity. {ECO:0000269PubMed:22922100}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:15623529}.
Disease Associations Spastic paraplegia 28, autosomal recessive (SPG28) [MIM:609340]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment. {ECO:0000269PubMed:23176821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain. {ECO:0000269PubMed:9488669}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0008219 cell death
GO:0016042 lipid catabolic process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR004177 DDHD
PFAM PF02862
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NEL9
PhosphoSite PhosphoSite-Q8NEL9
TrEMBL G3V2P6
UniProt Splice Variant
Entrez Gene 80821
UniGene Hs.608943
RefSeq NP_001153620
HUGO HGNC:19714
OMIM 614603
CCDS CCDS53895
HPRD 07482
IMGT
EMBL AB051492 AK058137 AK125372 AL352979 AL356020 BC018014 BC030703 CH471061
GenPept AAH18014 AAH30703 BAB21796 BAB71679 EAW80623

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca