MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP005999

UniProt Annotations

Entry Information
Gene Namesolute carrier family 44, member 4
Protein EntryCTL4_HUMAN
UniProt IDQ53GD3
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q53GD3-1; Sequence=Displayed; Name=2; IsoId=Q53GD3-2; Sequence=VSP_030998; Note=No experimental confirmation available.; Name=3; IsoId=Q53GD3-3; Sequence=VSP_046236; Note=No experimental confirmation available.; Name=4; IsoId=Q53GD3-4; Sequence=VSP_046821;
DiseaseNote=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis.
SimilarityBelongs to the CTL (choline transporter-like) family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
  logo