SLC13A5 (solute carrier family 13 member 5)

2017-10-01 Affiliation

Identity

HGNC

SLC13A5

LOCATION

17p13.1

LOCUSID

284111

ALIAS

DEE25,EIEE25,INDY,NACT,mIndy

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: 284111
MIM: 608305
HGNC: 23089
Ensembl: ENSG00000141485

Variants:

dbSNP: 284111
ClinVar: 284111
TCGA: ENSG00000141485
COSMIC: SLC13A5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141485	ENST00000293800	Q86YT5
ENSG00000141485	ENST00000381074	Q86YT5
ENSG00000141485	ENST00000433363	Q86YT5
ENSG00000141485	ENST00000570687	I3L2Y7
ENSG00000141485	ENST00000572094	I3L4S9
ENSG00000141485	ENST00000572352	I3L4X6
ENSG00000141485	ENST00000573648	Q86YT5
ENSG00000141485	ENST00000575230	I3L424

Expression (GTEx)

100

150

200

250

300

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
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Sodium-coupled sulphate, di- and tri-carboxylate transporters	REACTOME	R-HSA-433137

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12445824	2002	Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function.	39
12826022	2003	Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action.	0
16973915	2007	Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines.	0
24995870	2014	Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.	0
25628225	2015	SLC13A5 is a novel transcriptional target of the pregnane X receptor and sensitizes drug-induced steatosis in human liver.	0
26384929	2015	Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.	0
26620127	2015	Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5).	0
27261973	2016	Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.	0
27600704	2017	SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.	0

Citation

Dessen P

SLC13A5 (solute carrier family 13 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57133/slc13a5