LMPD Database

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LMP002241

UniProt Annotations

Entry Information
Gene NameDDHD domain containing 1
Protein EntryDDHD1_HUMAN
UniProt IDQ8NEL9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NEL9-1; Sequence=Displayed; Name=2; IsoId=Q8NEL9-2; Sequence=VSP_008629; Name=3; IsoId=Q8NEL9-3; Sequence=VSP_008628, VSP_008629; Note=No experimental confirmation available.; Name=4; IsoId=Q8NEL9-4; Sequence=VSP_045340, VSP_008629; Note=No experimental confirmation available.;
DiseaseSpastic paraplegia 28, autosomal recessive (SPG28) [MIM
FunctionPhospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.
Sequence CautionSequence=BAB21796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=BAB71679.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
SimilarityBelongs to the PA-PLA1 family.
SimilarityContains 1 DDHD domain. {ECO
Subcellular LocationCytoplasm .
SubunitForms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.
Tissue SpecificityHighly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.