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MGP004600

UniProt Annotations

Entry Information
Gene Namesolute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
Protein EntryS35D1_HUMAN
UniProt IDQ9NTN3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NTN3-1; Sequence=Displayed; Name=2; IsoId=Q9NTN3-2; Sequence=VSP_056860, VSP_056861; Note=No experimental confirmation available.;
DiseaseSchneckenbecken dysplasia (SCHBCKD) [MIM:269250]: Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. {ECO:0000269|PubMed:17952091}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTransports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis.
Sequence CautionSequence=BAA13390.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the TPT transporter family. SLC35D subfamily. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.
Tissue SpecificityUbiquitous.
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=SLC35D1";
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