SLC35A3 (solute carrier family 35 member A3)

2014-11-01  

Identity

HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
AMRS
FUSION GENES

Other Information

Locus ID:

NCBI: 23443
MIM: 605632
HGNC: 11023
Ensembl: ENSG00000117620

Variants:

dbSNP: 23443
ClinVar: 23443
TCGA: ENSG00000117620
COSMIC: SLC35A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117620ENST00000370153Q9Y2D2
ENSG00000117620ENST00000370155A0A1C7CYW3
ENSG00000117620ENST00000427993Q9Y2D2
ENSG00000117620ENST00000465289Q9Y2D2
ENSG00000117620ENST00000532693E9PPQ9
ENSG00000117620ENST00000533028Q9Y2D2
ENSG00000117620ENST00000638336Q9Y2D2
ENSG00000117620ENST00000638338A0A1W2PPH4
ENSG00000117620ENST00000638371A0A1W2PNY6
ENSG00000117620ENST00000638876A0A1W2PPW2
ENSG00000117620ENST00000638988A0A1W2PRN3
ENSG00000117620ENST00000639088A0A1W2PPW2
ENSG00000117620ENST00000639148A0A1W2PP85
ENSG00000117620ENST00000639221A0A1W2PQL8
ENSG00000117620ENST00000639807A0A1W2PNF0
ENSG00000117620ENST00000639994A0A1W2PQH2
ENSG00000117620ENST00000640178A0A1W2PPW2
ENSG00000117620ENST00000640360A0A1W2PPW2
ENSG00000117620ENST00000640600A0A1W2PQ60
ENSG00000117620ENST00000640715A0A1W2PSD1
ENSG00000117620ENST00000640726A0A1W2PR66
ENSG00000117620ENST00000640732A0A1W2PRT7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163445542006A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.43
240310892013Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.12
259449012015UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats).11
166915982006Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.5
235834052013UDP-Gal/UDP-GlcNAc chimeric transporter complements mutation defect in mammalian cells deficient in UDP-Gal transporter.5
283281312017Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.4
287774812017A human case of SLC35A3-related skeletal dysplasia.3

Citation

Dessen P

SLC35A3 (solute carrier family 35 member A3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73399/slc35a3