LIPID MAPS® Gene/Proteome Database (LMPD)

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LMPD Record

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LMP012273

UniProt Annotations

Entry Information
Gene Nameisoprenoid synthase domain containing
Protein EntryISPD_DANRE
UniProt IDA0JPF9
SpeciesZebrafish
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=A0JPF9-1; Sequence=Displayed; Name=2; IsoId=A0JPF9-2; Sequence=VSP_044045; Name=3; IsoId=A0JPF9-3; Sequence=VSP_044046; Note=No experimental confirmation available.;
Disruption PhenotypeHydrocephalus and incomplete brain folding by 48 hours post fertilization (h.p.f.), as well as significantly reduced eye size reminiscent of microphthalmia in patients suffering of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies in human. {ECO:0000269|PubMed:22522421}.
FunctionRequired for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation. {ECO:0000269|PubMed:22522421}.
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the IspD family. {ECO:0000305}.