2. Gene
  3. SLC7A9 - solute carrier family 7 member 9 Gene

SLC7A9 - solute carrier family 7 member 9 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BAT1; CSNU3

Gene ID: 11136 | Gene type: protein coding

About SLC7A9

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,830,511-32,869,767 (from NCBI)

This gene has 6 transcripts (splice variants), 241 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 31.7), duodenum (RPKM 21.2) and 2 other tissues.

Summary

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic Amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic Amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

SLC7A9 Products(3)

mRNA Protein Name
NM_001126335.2 NP_001119807.1 B(0,+)-type amino acid transporter 1
NM_001243036.2 NP_001229965.1 B(0,+)-type amino acid transporter 1
NM_014270.5 NP_055085.1 B(0,+)-type amino acid transporter 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables L-cystine transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
16609684 GOA
enables antiporter activity IDA
IDA: Inferred from direct assay
32494597 GOA
enables broad specificity neutral L-amino acid:basic L-amino acid antiporter activity IDA
IDA: Inferred from direct assay
8663357 GOA
enables neutral L-amino acid transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
16609684 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12167606 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
32494597 GOA
Biological Process GO Annotation Evidence Reference Source
involved in L-cystine transport IMP
IMP: Inferred from mutant phenotype
16609684 GOA
involved in neutral amino acid transport IMP
IMP: Inferred from mutant phenotype
16609684 GOA
Cellular Component GO Annotation Evidence Reference Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
16609684 GOA
located in brush border membrane IDA
IDA: Inferred from direct assay
12167606 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

SLC7A9 Protein Structure

AA_permease_2

AA_permease_2: Amino acid permease (30 - 445)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 487 a.a.
Protein Preferred Names Protein Names

B(0,+)-type amino acid transporter 1

b(0,+)AT

SLC7A9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SLC7A9 P82251 CREB3 Homo sapiens O43889-2
Y2H Array
25910212
Intra
SLC7A9 P82251 CREB3 Homo sapiens O43889-2
Y2H Bait-Prey Pool
25910212
Intra
SLC7A9 P82251 CREB3 Homo sapiens O43889-2
Validated Y2H
25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Ureteral Disease

Ureteral Diseases

Ureteral Disorders

Disorder Of Ureter
Aminoaciduria
Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To

Uric Acid Urolithiasis

Uric Acid Nephrolithiasis

UAN

Acute Urate Nephropathy

Urolithiasis, Uric Acid

Urolithiasis, Uric Acid, Susceptibility To

Uric Acid Renal Calculus
Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs
Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders
Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy

Congenital Megaconial Myopathy

Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect

Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities

Megaconial Congenital Muscular Dystrophy

MDCMC

Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities

Megaconial Congénital Muscular Dystrophy

Dystrophy, Muscular, Congenital, Megaconial Type
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus
Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency

2,8-Dihydroxyadenine Urolithiasis

APRTD

2,8-Dihydroxyadeninuria

Dihydroxyadeninuria

Urolithiasis, 2,8-Dihydroxyadenine

Urolithiasis, Dha

Nephrolithiasis, Dha

Dha Crystalline Nephropathy

Nephrolithiasis Dha

Urolithiasis Dha
Lysinuric Protein Intolerance

LPI

Dibasic Amino Aciduria Ii

Hyperdibasic Aminoaciduria

Dibasic Aminoaciduria 2

Dibasicamino Aciduria Ii

Congenital Lysinuria

Lpi - Lysinuric Protein Intolerance
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13336 SLC7A9 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC7A9 VGNC VGNC:77633
Bos taurus SLC7A9 VGNC VGNC:34934
Canis familiaris SLC7A9 VGNC VGNC:46479
Felis catus SLC7A9 VGNC VGNC:65428
Rattus norvegicus SLC7A9 RGD RGD:619905
Mus musculus SLC7A9 MGD MGI:1353656
Others SLC7A9 NCBI