SLC7A7 (solute carrier family 7 member 7)

2013-11-01 Affiliation

Identity

HGNC

SLC7A7

LOCATION

14q11.2

LOCUSID

9056

ALIAS

LAT3,LPI,MOP-2,Y+LAT1,y+LAT-1

FUSION GENES

Show Gene Fusions

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: 9056
MIM: 603593
HGNC: 11065
Ensembl: ENSG00000155465

Variants:

dbSNP: 9056
ClinVar: 9056
TCGA: ENSG00000155465
COSMIC: SLC7A7

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000155465	ENST00000285850	Q9UM01
ENSG00000155465	ENST00000285850	A0A0S2Z502
ENSG00000155465	ENST00000397528	Q9UM01
ENSG00000155465	ENST00000397528	A0A0S2Z502
ENSG00000155465	ENST00000397529	Q9UM01
ENSG00000155465	ENST00000397529	A0A0S2Z502
ENSG00000155465	ENST00000397532	Q9UM01
ENSG00000155465	ENST00000397532	A0A0S2Z502
ENSG00000155465	ENST00000488800	D6RFE5
ENSG00000155465	ENST00000554517	G3V4Z6
ENSG00000155465	ENST00000554741	G3V362
ENSG00000155465	ENST00000554758	G3V2H8
ENSG00000155465	ENST00000555251	G3V4U1
ENSG00000155465	ENST00000555702	Q9UM01
ENSG00000155465	ENST00000555702	A0A0S2Z502
ENSG00000155465	ENST00000555911	G3V5W2
ENSG00000155465	ENST00000555959	G3V5A1
ENSG00000155465	ENST00000556287	G3V2K0
ENSG00000155465	ENST00000556350	H0YJ95
ENSG00000155465	ENST00000557129	G3V2L0
ENSG00000155465	ENST00000557629	G3V273
ENSG00000155465	ENST00000674313	A0A0S2Z502

Expression (GTEx)

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
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
Hemostasis	REACTOME	R-HSA-109582
Cell surface interactions at the vascular wall	REACTOME	R-HSA-202733
Basigin interactions	REACTOME	R-HSA-210991
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptides	REACTOME	R-HSA-425393
Amino acid transport across the plasma membrane	REACTOME	R-HSA-352230

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17764084	2008	Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.	14
18716612	2009	Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.	11
29499643	2018	Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.	11
21586674	2011	Arginine transport in human monocytic leukemia THP-1 cells during macrophage differentiation.	10
22325938	2012	Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.	9
29616026	2018	Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.	6
23408368	2013	Overexpression of SLC7A7 predicts poor progression-free and overall survival in patients with glioblastoma.	5
15756301	2005	A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.	4
15776427	2005	Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.	4
17196863	2007	Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.	4

Citation

Dessen P

SLC7A7 (solute carrier family 7 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53539/slc7a7-(solute-carrier-family-7-member-7)