Homo sapiens Protein: SLC35D1
Summary
InnateDB Protein IDBP-99544.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC35D1
Protein Name solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1
Synonyms UGTREL7;
Species Homo sapiens
Ensembl Protein ENSP00000235345
InnateDB Gene IDBG-99542 (SLC35D1)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Endoplasmic reticulum membrane; Multi-pass membrane protein.
Disease Associations Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]: Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. {ECO:0000269PubMed:17952091}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005461 UDP-glucuronic acid transmembrane transporter activity
GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity
Biological Process
GO:0006065 UDP-glucuronate biosynthetic process
GO:0006805 xenobiotic metabolic process
GO:0008643 carbohydrate transport
GO:0015781 pyrimidine nucleotide-sugar transport
GO:0015787 UDP-glucuronic acid transport
GO:0030206 chondroitin sulfate biosynthetic process
GO:0044281 small molecule metabolic process
GO:0048706 embryonic skeletal system development
GO:0052695 cellular glucuronidation
GO:0055085 transmembrane transport
GO:0090481 pyrimidine nucleotide-sugar transmembrane transport
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR004853 Triose-phosphate transporter domain
PFAM PF03151
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NTN3
PhosphoSite PhosphoSite-Q9NTN3
TrEMBL
UniProt Splice Variant
Entrez Gene 23169
UniGene Hs.213642
RefSeq NP_055954
HUGO HGNC:20800
OMIM 610804
CCDS CCDS636
HPRD 15372
IMGT
EMBL AB044343 AK289800 AL133320 BC093786 BC112031 D87449
GenPept AAH93786 AAI12032 BAA13390 BAB18586 BAF82489 CAB92090