SLC35D1
Function
Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for either their cognate nucleoside monophosphate or another nucleotide sugar (PubMed:16965264, PubMed:17599910, PubMed:31423530). Transports various UDP-sugars including UDP-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc), UDP-N-acetyl-alpha-D-galactosamine (UDP-GalNAc) and UDP-alpha-D-glucuronate (UDP-GlcA), which are used by ER glucosyltransferases as sugar donors for the synthesis of sugar chains of glycoproteins, glycolipids and oligosaccharides (PubMed:11322953, PubMed:16965264, PubMed:17599910, PubMed:17952091, PubMed:31423530). May couple UDP-GlcNAc or UDP-GalNAc efflux to UDP-GlcA influx into the ER lumen that in turn stimulates glucuronidation and subsequent excretion of endobiotics and xenobiotics (PubMed:16965264, PubMed:17599910). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity).
Involvement in disease
Schneckenbecken dysplasia
SHNKND
A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TPT transporter family. SLC35D subfamily.
Tissue Specificity
Ubiquitous.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
KIAA0260, UGTREL7, SLC35D1, Nucleotide sugar transporter SLC35D1, Solute carrier family 35 member D1, UDP-galactose transporter-related protein 7, UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, UGTrel7, UDP-GlcA/UDP-GalNAc transporter