DDHD2
entrez
23259
canonical
uniprot
O94830
canonical
ensembl
ENSG00000085788
resolver
ensp
ENSP00000380352
resolver
ensp
ENSP00000429932
resolver
ensp
ENSP00000523839
resolver
ensp
ENSP00000523840
resolver
ensp
ENSP00000523844
resolver
ensp
ENSP00000523848
resolver
ensp
ENSP00000523849
resolver
ensp
ENSP00000640201
resolver
ensp
ENSP00000783484
resolver
genesymbol
DDHD2
resolver
genesymbol_syn
KIAA0725
resolver
genesymbol_syn
SAMWD1
resolver
hgnc
HGNC:29106
resolver
uniprot
B3KPM6
resolver
uniprot
B3KWV2
resolver
uniprot
B3KXB5
resolver
uniprot
Q9H8X7
resolver
uniprot_entry
B3KPM6_HUMAN
resolver
uniprot_entry
DDHD2_HUMAN
resolver
uniprot_sec
B3KWV2
resolver
uniprot_sec
B3KXB5
resolver
uniprot_sec
Q9H8X7
resolver
amino_acid_sequence
MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCTDRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ
uniprot
proteins
disease_involvement
DISEASE: 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, and an abnormal lipid peak due to accumulation of neutral lipids in certain brain regions. {ECO:0000269|PubMed:23176823, ECO:0000269|PubMed:23486545, ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:29278326}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.-
uniprot
proteins
ec_number
3.1.1.3
uniprot
proteins
function
FUNCTION: Diacylglycerol (DAG) and triacylglycerol (TAG) lipase required for proper lipid homeostasis in the central nervous system (PubMed:29278326, PubMed:37832604). It cooperates with PNPLA2/ATGL in neuronal TAG catabolism and hydrolyzes sn-1,3 DAG downstream of PNPLA2/ATGL (By similarity). In vitro, it also acts as a phospholipase that hydrolyzes preferentially phosphatidic acids, including 1,2-dioleoyl-sn-phosphatidic acid, phosphatidylcholine 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:0000250|UniProtKB:Q80Y98, ECO:0000269|PubMed:11788596, ECO:0000269|PubMed:20932832, ECO:0000269|PubMed:22922100, ECO:0000269|PubMed:29278326, ECO:0000269|PubMed:37832604}.
uniprot
proteins
mass_dalton
81032
uniprot
proteins
mutagenesis
MUTAGEN 103; /note="W->R: Loss of triacylglycerol hydrolase activity."; /evidence="ECO:0000269|PubMed:29278326"; MUTAGEN 220; /note="V->F: Loss of triacylglycerol hydrolase activity."; /evidence="ECO:0000269|PubMed:29278326"; MUTAGEN 351; /note="S->A: Abolishes phospholipase activity. Loss of efficient targeting to the Golgi apparatus. No effect on PI(3)P-, PI(4)P-, PI(5)P-binding. Loss of triacylglycerol hydrolase activity."; /evidence="ECO:0000269|PubMed:11788596, ECO:0000269|PubMed:20932832, ECO:0000269|PubMed:22922100, ECO:0000269|PubMed:29278326"; MUTAGEN 434; /note="R->A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-435 and A-436."; /evidence="ECO:0000269|PubMed:22922100"; MUTAGEN 435; /note="K->A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-436."; /evidence="ECO:0000269|PubMed:22922100"; MUTAGEN 436; /note="K->A: Loss of phospholipid binding and of Golgi/ERGIC localization; when associated with A-434 and A-435."; /evidence="ECO:0000269|PubMed:22922100
uniprot
proteins
protein_family
PA-PLA1 family
uniprot
proteins
pubmed
11788596
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15623529
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
20932832
uniprot
proteins
pubmed
22922100
uniprot
proteins
pubmed
23176823
uniprot
proteins
pubmed
23486545
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
29278326
uniprot
proteins
pubmed
37832604
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
711
uniprot
proteins
subcellular_location
SUBCELLULAR 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.
uniprot
proteins