SLC6A19 (solute carrier family 6 member 19)

2013-06-01  

Identity

HGNC
SLC6A19
LOCATION
5p15.33
LOCUSID
340024
ALIAS
B0AT1,HND
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 340024
MIM: 608893
HGNC: 27960
Ensembl: ENSG00000174358

Variants:

dbSNP: 340024
ClinVar: 340024
TCGA: ENSG00000174358
COSMIC: SLC6A19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174358ENST00000304460Q695T7
ENSG00000174358ENST00000515652E9PD72

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Amino acid transport across the plasma membraneREACTOMER-HSA-352230
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Na+/Cl- dependent neurotransmitter transportersREACTOMER-HSA-442660

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
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
321321842020Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2.371
255344292015Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.40
193229092009Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells.6
219642912011Stimulation of the amino acid transporter SLC6A19 by JAK2.3
78760941995Differentiation- and protein kinase C-dependent regulation of alanine transport via system B.0
152867882004Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.0
175554582007Persistence of the common Hartnup disease D173N allele in populations of European origin.0
184840952008Further evidence for allelic heterogeneity in Hartnup disorder.0
186719452008Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension.0
186719452008Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension.0

Citation

Dessen P

SLC6A19 (solute carrier family 6 member 19)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53392/slc6a19