InnateDB Protein
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IDBP-99544.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC35D1
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Protein Name
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solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1
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Synonyms
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UGTREL7;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000235345
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InnateDB Gene
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IDBG-99542 (SLC35D1)
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Protein Structure
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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.
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Subcellular Localization |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
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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.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005461
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UDP-glucuronic acid transmembrane transporter activity
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GO:0015165
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pyrimidine nucleotide-sugar transmembrane transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004853
Triose-phosphate transporter domain
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PFAM |
PF03151
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NTN3
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PhosphoSite |
PhosphoSite-Q9NTN3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
23169
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UniGene |
Hs.213642
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RefSeq |
NP_055954
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HUGO |
HGNC:20800
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OMIM |
610804
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CCDS |
CCDS636
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HPRD |
15372
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IMGT |
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EMBL |
AB044343
AK289800
AL133320
BC093786
BC112031
D87449
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GenPept |
AAH93786
AAI12032
BAA13390
BAB18586
BAF82489
CAB92090
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