SLCtables

SLC35D1

Protein name: UGTREL7 Aliases: KIAA0260, MGC138236 Substrates: UDP-glucuronic acid, UDP-N-acetylgalactosamine Transport type: Exchanger / UMP Tissue and cellular expression: ubiquitous, high in colon, stomach, lung, leukocytes Subcellular expression: ER Disease: Schneckenbecken dysplasia Locus: 1p32-p31 Sequence ID: NP_055954.1, NM_015139.2 Gene ID: 23169 Splice variants: N/D

S35D1_HUMAN (UniProt)

Gene names: SLC35D1, KIAA0260, UGTREL7
Protein names and data: S35D1_HUMAN, Full=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter;Short=UDP-GlcA/UDP-GalNAc transporter, Full=Solute carrier family 35 member D1;Full=UDP-galactose transporter-related protein 7;Short=UGTrel7; Length: 355 a.a., Mass: 39240 Da,
fasta formatted sequence
Function: Transports 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
Disease: (OMIM: 269250 610804) Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]. Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Tissue specificity: Ubiquitous

Database cross-references

UniProt: Q9NTN3
NextBio: 44571
OMIM: 269250 610804
Ensembl: ENST00000235345
GeneCard: GC01M066999
TCDB: 2.A.7.15.4
PharmGenUCSF: SLC35D1
Guide to Pharmacology: SLC35D1 (1149)
SLC35 family of nucleotide sugar transporters (1149)
HGNC: HGNC:20800

Genetic variants

See also Ensembl:ENST00000235345

82 - 82 A -> T (in dbSNP:rs10157422). VAR_042729 10157422