solute carrier family 35 member D1

Summary
Gene Symbol
  • SLC35D1
Aliases
  • KIAA0260
  • UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
  • UGTREL7
Organism
Homo sapiens (human)
NCBI Gene
23169
GGDB ID
HGNC
20800
mRNA
map
  • 1p32-p31
Protein
OMIM
KEGG Gene ID
hsa:23169
PubChem
23169
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Dwarfism
  • Endoplasmic reticulum
  • Reference proteome
  • Sugar transport
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NTN3
  • Solute carrier family 35 member D1
  • UDP-galactose transporter-related protein 7
  • UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
UDP-sugar transporter
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
GlycoGene Database (GGDB)
GGDB ID
gg177
Gene Symbol
  • SLC35D1
Orthologous Gene
KEGG BRITE Database
Orthology
K15281
Name
solute carrier family 35, member D1/2/3
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0050775 schneckenbecken dysplasia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000272 Malar flattening
HP:0000470 Short neck
HP:0000773 Short ribs
HP:0000774 Narrow chest
HP:0000882 Hypoplastic scapulae
Displaying all 2 entries
Disease ID Disease Name
OMIM:269250
  • schneckenbecken dysplasia
ORPHA:3144
  • schneckenbecken dysplasia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025