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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Schneckenbecken dysplasia Likely pathogenic; Pathogenic rs766692914, rs747883333, rs2524821657, rs137853111, rs1570643880, rs267607063, rs369408014, rs267607062, rs2524822421, rs925450718 RCV001783764
RCV002012930
RCV000001182
RCV000001183
RCV000001184
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC35D1-related disorder Likely pathogenic rs1171884826 RCV003400224
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Fibrochondrogenesis Fibrochondrogenesis BEFREE 19508970
★☆☆☆☆
Found in Text Mining only
Long narrow head Dolichocephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Macrocephaly Macrocephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Micromelia Micromelia HPO_DG
★☆☆☆☆
Found in Text Mining only
Osteochondrodysplasias Osteochondrodysplasia BEFREE 17952091
★☆☆☆☆
Found in Text Mining only
Schneckenbecken dysplasia Schneckenbecken Dysplasia BEFREE 17952091, 19508970, 31423530
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schneckenbecken dysplasia Schneckenbecken Dysplasia GENOMICS_ENGLAND_DG 17952091
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)