Gene Gene information from NCBI Gene database.
Entrez ID 23169
Gene name Solute carrier family 35 member D1
Gene symbol SLC35D1
Synonyms (NCBI Gene)
SHNKNDUGTREL7
Chromosome 1
Chromosome location 1p31.3
Summary Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs137853111 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs143218310 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, missense variant
rs267607062 T>C,G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs267607063 G>A,C Pathogenic Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs369408014 T>C Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
796
miRTarBase ID miRNA Experiments Reference
MIRT020200 hsa-miR-130b-3p Sequencing 20371350
MIRT031167 hsa-miR-19b-3p Sequencing 20371350
MIRT037500 hsa-miR-744-5p CLASH 23622248
MIRT554202 hsa-miR-548ae-3p PAR-CLIP 21572407
MIRT554201 hsa-miR-548ah-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005461 Function UDP-glucuronate transmembrane transporter activity IBA
GO:0005461 Function UDP-glucuronate transmembrane transporter activity TAS
GO:0005462 Function UDP-N-acetylglucosamine transmembrane transporter activity IBA
GO:0005463 Function UDP-N-acetylgalactosamine transmembrane transporter activity IBA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610804 20800 ENSG00000116704
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NTN3
Protein name Nucleotide sugar transporter SLC35D1 (Solute carrier family 35 member D1) (UDP-galactose transporter-related protein 7) (UGTrel7) (UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter) (UDP-GlcA/UDP-GalNAc transporter)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03151 TPT 39 328 Triose-phosphate Transporter family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11322953}.
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the active cofactor, UDP-glucuronate
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)
Transport of nucleotide sugars
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
151
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Schneckenbecken dysplasia Likely pathogenic; Pathogenic rs766692914, rs747883333, rs2524821657, rs137853111, rs1570643880, rs267607063, rs369408014, rs267607062, rs2524822421, rs925450718 RCV001783764
RCV002012930
RCV000001182
RCV000001183
RCV000001184
RCV000001185
RCV000001186
RCV000001188
RCV002825398
RCV004018033
SLC35D1-related disorder Likely pathogenic rs1171884826 RCV003400224
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7539628 RCV005909437
Cervical cancer Benign rs7539628 RCV005909440
Cholangiocarcinoma Benign rs7539628 RCV005909447
Clear cell carcinoma of kidney Benign rs7539628 RCV005909441
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Schneckenbecken dysplasia Associate 19508970