RBCC Red Blood Cell Collection

DDHD2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: DDHD2 , KIAA0725, SAMWD1
Protein names and data: DDHD2_HUMAN , Phospholipase DDHD2; 3.1.1.- , DDHD domain-containing protein 2; KIAA0725p; SAM, WWE and DDHD domain-containing protein 1 Lenght: 711 a.a.
Mass: 81032 Da
fasta formatted sequence
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.
Disease: ( OMIM: 615003 615033 ) 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 characterized by the addition of such neurological features as spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis pigmentosa, deafness, dementia, amyotrophy and ichthyosis. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: 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.
Tissue specificity: Widely expressed (at protein level).

Genetic variants

186 - 186 T -> M (in dbSNP:rs2306899). VAR_036930 2306899
660 - 660 D -> H (in SPG54). VAR_069574

Database cross-references

UniProt: O94830
Ensembl: ENST00000397166
Ensembl: ENST00000520272
MIM: 615003
MIM: 615033
neXtProt: NX_O94830
Antibodypedia: O94830 (may not find the protein thus also not any antibody)
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