SLC35A1 (solute carrier family 35 member A1)

2014-11-01 Affiliation

Identity

HGNC

SLC35A1

LOCATION

6q15

LOCUSID

10559

ALIAS

CDG2F,CMPST,CST,hCST

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10559
MIM: 605634
HGNC: 11021
Ensembl: ENSG00000164414

Variants:

dbSNP: 10559
ClinVar: 10559
TCGA: ENSG00000164414
COSMIC: SLC35A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164414	ENST00000369552	P78382
ENSG00000164414	ENST00000369556	P78382
ENSG00000164414	ENST00000369557	Q5W1L7
ENSG00000164414	ENST00000622775	A0A087WVM1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	REACTOME	R-HSA-446193
Synthesis of substrates in N-glycan biosythesis	REACTOME	R-HSA-446219
Sialic acid metabolism	REACTOME	R-HSA-4085001
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of vitamins, nucleosides, and related molecules	REACTOME	R-HSA-425397
Transport of nucleotide sugars	REACTOME	R-HSA-727802

References

Pubmed ID	Year	Title	Citations
15576474	2005	Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.	31
12682060	2003	Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters.	15
16923816	2006	The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.	13
23873973	2013	Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.	11
25552652	2015	Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.	10
16343442	2006	Expression of human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter in tobacco suspension-cultured cell.	5
30115659	2018	A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.	5
28856833	2017	Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.	4
27387429	2016	A functional splice variant of the human Golgi CMP-sialic acid transporter.	2

Citation

Dessen P

SLC35A1 (solute carrier family 35 member A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73397/slc35a1