SLC3A1 (solute carrier family 3 member 1)

2016-10-01  

Identity

HGNC
SLC3A1
LOCATION
2p21
LOCUSID
6519
ALIAS
ATR1,CSNU1,D2H,NBAT,RBAT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6519
MIM: 104614
HGNC: 11025
Ensembl: ENSG00000138079

Variants:

dbSNP: 6519
ClinVar: 6519
TCGA: ENSG00000138079
COSMIC: SLC3A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138079ENST00000260649Q07837
ENSG00000138079ENST00000260649A0A0S2Z4E1
ENSG00000138079ENST00000409229Q07837
ENSG00000138079ENST00000409294B8ZZP2
ENSG00000138079ENST00000409380Q07837
ENSG00000138079ENST00000409387B8ZZK1
ENSG00000138079ENST00000409740Q07837
ENSG00000138079ENST00000409741Q07837
ENSG00000138079ENST00000410056Q07837
ENSG00000138079ENST00000427285C9JBK3
ENSG00000138079ENST00000611973A0A087X0R9

Expression (GTEx)

0
5
10
15
20
25
30
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
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

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
122392442002Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.38
156350772005New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.29
156350772005New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.29
121676062002rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.18
182347292008Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.15
120606002002Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells.13
122342832002Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
212550072012Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.11
283821742017Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis.11

Citation

Dessen P

SLC3A1 (solute carrier family 3 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56285/slc3a1