Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23169
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 35 member D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC35D1
Synonyms (NCBI Gene) Gene synonyms aliases
SHNKND, UGTREL7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SHNKND
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005461 Function UDP-glucuronic acid transmembrane transporter activity IBA 21873635
GO:0005462 Function UDP-N-acetylglucosamine transmembrane transporter activity IBA 21873635
GO:0005463 Function UDP-N-acetylgalactosamine transmembrane transporter activity IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005794 Component Golgi apparatus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610804 20800 ENSG00000116704
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Schneckenbecken dysplasia Schneckenbecken dysplasia rs137853111, rs1570643880, rs267607063, rs369408014, rs267607062 17952091, 19508970
Unknown
Disease term Disease name Evidence References Source
Eczema Eczema GWAS
Psoriasis Psoriasis GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Schneckenbecken dysplasia Associate 19508970