SLC13A5 (solute carrier family 13 member 5)

2017-10-01  

Identity

HGNC
SLC13A5
LOCATION
17p13.1
LOCUSID
284111
ALIAS
DEE25,EIEE25,INDY,NACT,mIndy

Other Information

Locus ID:

NCBI: 284111
MIM: 608305
HGNC: 23089
Ensembl: ENSG00000141485

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141485ENST00000293800Q86YT5
ENSG00000141485ENST00000381074Q86YT5
ENSG00000141485ENST00000433363Q86YT5
ENSG00000141485ENST00000570687I3L2Y7
ENSG00000141485ENST00000572094I3L4S9
ENSG00000141485ENST00000572352I3L4X6
ENSG00000141485ENST00000573648Q86YT5
ENSG00000141485ENST00000575230I3L424

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Sodium-coupled sulphate, di- and tri-carboxylate transportersREACTOMER-HSA-433137

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381136972024Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.0
381136972024Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.0
376897982023The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.3
376897982023The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.3
335441262021Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.17
335977512021Structure and inhibition mechanism of the human citrate transporter NaCT.29
337971912021A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.12
343230672021Regulation on Citrate Influx and Metabolism through Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic Effects of Curcumin on NAFLD.7
345253522021NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions.18
335441262021Consequences of NaCT/SLC13A5/mINDY deficiency: good versus evil, separated only by the blood-brain barrier.17
335977512021Structure and inhibition mechanism of the human citrate transporter NaCT.29
337971912021A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.12
343230672021Regulation on Citrate Influx and Metabolism through Inhibiting SLC13A5 and ACLY: A Novel Mechanism Mediating the Therapeutic Effects of Curcumin on NAFLD.7
345253522021NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions.18
321522292020A dynamic anchor domain in slc13 transporters controls metabolite transport.8

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/haematological-explorer/css/meetings