SLC7A9 - solute carrier family 7 member 9 Gene

Also Known as BAT1; CSNU3

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 11136

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS13336 SLC7A9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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