SLC35D1 (solute carrier family 35 member D1)

2014-11-01  

Identity

HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
SHNKND,UGTREL7
FUSION GENES

Other Information

Locus ID:

NCBI: 23169
MIM: 610804
HGNC: 20800
Ensembl: ENSG00000116704

Variants:

dbSNP: 23169
ClinVar: 23169
TCGA: ENSG00000116704
COSMIC: SLC35D1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116704ENST00000235345Q9NTN3

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Transport of nucleotide sugarsREACTOMER-HSA-727802
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
GlucuronidationREACTOMER-HSA-156588
Formation of the active cofactor, UDP-glucuronateREACTOMER-HSA-173599

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179520912007Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.38
195089702009Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.11
277128582016Fine mapping of the GWAS loci identifies SLC35D1 and IL23R as potential risk genes for leprosy.1

Citation

Dessen P

SLC35D1 (solute carrier family 35 member D1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73404/slc35d1