InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DDHD2

Summary

InnateDB Protein

IDBP-235952.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DDHD2

Protein Name

DDHD domain containing 2

Synonyms

iPLA(1)gamma; SAMWD1; SPG54;

Species

Homo sapiens

Ensembl Protein

ENSP00000380352

InnateDB Gene

IDBG-17522 (DDHD2)

Protein Structure

UniProt Annotation

Function

Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4- phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane. {ECO:0000269PubMed:11788596, ECO:0000269PubMed:20932832, ECO:0000269PubMed:22922100}.

Subcellular Localization

Cytoplasm, cytosol. Endoplasmic reticulum- Golgi intermediate compartment. Golgi apparatus, cis-Golgi network. Note=Cycles between the Golgi apparatus and the cytosol. DDHD2 recruitment to the Golgi/endoplasmic reticulum-Golgi intermediate compartment (ERGIC) is regulated by the levels of phosphoinositides, including PI(4)P.

Disease Associations

Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033]: 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. {ECO:0000269PubMed:23176823}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed (at protein level). {ECO:0000269PubMed:11788596}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
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
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0005794	Golgi apparatus
GO:0005815	microtubule organizing center
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR001660 Sterile alpha motif domain
IPR004170 WWE domain
IPR004177 DDHD
IPR011510 Sterile alpha motif, type 2
IPR013761 Sterile alpha motif/pointed domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF02825
PF02862
PF07647
PF00536

PRINTS

PIRSF

SMART

SM00454

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O94830