SLC7A7 - solute carrier family 7 member 7 Gene

Also Known as LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9056

About SLC7A7

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,773,222-22,819,791 (from NCBI)

This gene has 24 transcripts (splice variants), 213 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 96.7), small intestine (RPKM 45.3) and 11 other tissues.

Summary

The protein encoded by this gene is the light subunit of a cationic Amino acid Transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral Amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

SLC7A7 Products (3)

mRNA	Protein	Name
NM_001126105.3	NP_001119577.1	Y+L amino acid transporter 1
NM_001126106.4	NP_001119578.1	Y+L amino acid transporter 1
NM_003982.4	NP_003973.3	Y+L amino acid transporter 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9878049	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-arginine transmembrane transport	IDA IDA: Inferred from direct assay	9829974	GOA
involved in L-leucine transport	IDA IDA: Inferred from direct assay	9829974	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	15756301	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC7A7 Protein Structure

AA_permease_2

0
100
200
300
400
511 a.a.

Protein Preferred Names	Protein Names
Y+L amino acid transporter 1	lysinuric protein intolerance (dibasicaminoaciduria II)

SLC7A7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC7A7	Q9UM01	SLC3A2	Homo sapiens	P08195	Anti Bait CoIP	9878049

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lysinuric Protein Intolerance	LPI Dibasic Amino Aciduria Ii Hyperdibasic Aminoaciduria Dibasic Aminoaciduria 2 Dibasicamino Aciduria Ii Congenital Lysinuria Lpi - Lysinuric Protein Intolerance
Autoinflammatory Syndrome
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Orotic Aciduria	Hereditary Orotic Aciduria Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency Uridine Monophosphate Synthase Deficiency Umps Deficiency Uridine Monophosphate Synthetase Deficiency Orotic Aciduria I Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency Oprt And Odc Deficiency Ump Synthase Deficiency Orotic Aciduria Ii Oroticaciduria 1 Orotic Aciduria Hereditary Orotic Aciduria Type 1 Hereditary Orotic Aciduria Without Megaloblastic Anemia Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency Ump Synthtase Deficiency Umps Orotidylic Decarboxylase Deficiency Orotic Aciduria 1 ORAC1 Aciduria, Orotic Hereditary Orotic Aciduria, Type 1 Orotic Aciduria Nos Orotaciduric Anaemia Orotic Aciduria Anaemia Orotic Aciduria Megaloblastic Anaemia
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Pyrimidine Metabolic Disorder	Disorder Of Pyrimidine Metabolism Pyrimidine Metabolism Disorder
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
N-Acetylglutamate Synthase Deficiency	Nags Deficiency N-Acetylglutamate Synthetase Deficiency Hyperammonemia, Type Iii Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency NAGSD Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency N-Acetyl Glutamate Synthetase Deficiency Nag Synthetase Deficiency Deficiency, N-Acetylglutamate Synthase
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency Asl Deficiency Argininosuccinic Acid Lyase Deficiency Argininosuccinase Deficiency Argininosuccinic Acidemia Arginosuccinase Deficiency Asa Deficiency Argininosuccinicaciduria Asauria Deficiency Of Argininosuccinate Lyase Asld Arginino Succinase Deficiency Argininosuccinate Acidemia Inborn Error Of Urea Synthesis, Arginino Succinic Type Urea Cycle Disorder, Arginino Succinase Type Argininosuccinyl-Coa Lyase Deficiency Asa Argininosuccinatelyase Deficiency ARGINSA Aciduria Argininosuccinic Citrullinemia Argininosuccinic Acidaemia Metabolic Disorder Of Arginosuccinic Acid
Hartnup Disorder	Hartnup Disease HND Neutral 1 Amino Acid Transport Defect Neutral Amino Acid Transport Defect Deficiency Of Tryptophan Oxygenase Hartnup'S Disease Aminoaciduria, Hartnup Type Disorder Of Neutral Amino Acid Transport

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13334	SLC7A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21195	Slc7a7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27711	Slc7a7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC7A7	VGNC	VGNC:97633
Macaca mulatta	SLC7A7	VGNC	VGNC:77631
Mus musculus	SLC7A7	MGD	MGI:1337120
Canis familiaris	SLC7A7	VGNC	VGNC:46477
Rattus norvegicus	SLC7A7	RGD	RGD:619902
Bos taurus	SLC7A7	VGNC	VGNC:34932
Others	SLC7A7	NCBI