SLC6A9 (solute carrier family 6 member 9)

2014-11-01  

Identity

HGNC
SLC6A9
LOCATION
1p34.1
LOCUSID
6536
ALIAS
GCENSG,GLYT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6536
MIM: 601019
HGNC: 11056
Ensembl: ENSG00000196517

Variants:

dbSNP: 6536
ClinVar: 6536
TCGA: ENSG00000196517
COSMIC: SLC6A9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196517ENST00000357730P48067
ENSG00000196517ENST00000360584P48067
ENSG00000196517ENST00000372306J3KPA5
ENSG00000196517ENST00000372307B7Z3A9
ENSG00000196517ENST00000372310P48067
ENSG00000196517ENST00000466926E9PLM5
ENSG00000196517ENST00000475075B7Z589
ENSG00000196517ENST00000528803E9PJ65

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
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
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
385136632024Transport mechanism and pharmacology of the human GlyT1.0
385136632024Transport mechanism and pharmacology of the human GlyT1.0
370035712023Functional crosstalk of the glycine transporter GlyT1 and NMDA receptors.5
370035712023Functional crosstalk of the glycine transporter GlyT1 and NMDA receptors.5
332695552021GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.3
336583612021Chloride-dependent conformational changes in the GlyT1 glycine transporter.13
336587202021Structural insights into the inhibition of glycine reuptake.40
332695552021GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.3
336583612021Chloride-dependent conformational changes in the GlyT1 glycine transporter.13
336587202021Structural insights into the inhibition of glycine reuptake.40
327123012020GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations.3
327962352020Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia?0
327123012020GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations.3
327962352020Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia?0
274813952016Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.16

Citation

Dessen P

SLC6A9 (solute carrier family 6 member 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73480/slc6a9-(solute-carrier-family-6-member-9)