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SLC7A9 solute carrier family 7 member 9 [ Homo sapiens (human) ]

Gene ID: 11136, updated on 8-May-2016
Official Symbol
SLC7A9provided by HGNC
Official Full Name
solute carrier family 7 member 9provided by HGNC
Primary source
HGNC:HGNC:11067
See related
Ensembl:ENSG00000021488 HPRD:04997; MIM:604144; Vega:OTTHUMG00000180287
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BAT1; CSNU3
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]
Orthologs
Location:
19q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (32830511..32870167, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33321417..33360683, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372368 Neighboring gene tudor domain containing 12 Neighboring gene glial cells missing homolog 1 (Drosophila) pseudogene Neighboring gene centrosomal protein 89 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene Fanconi anemia core complex associated protein 24

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cystinuria
MedGen: C0010691 OMIM: 220100 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine.
NHGRI GWA Catalog
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genetic loci influencing kidney function and chronic kidney disease.
NHGRI GWA Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
  • Amino acid transport across the plasma membrane, organism-specific biosystem (from REACTOME)
    Amino acid transport across the plasma membrane, organism-specific biosystemAmino acid transport across plasma membranes is critical to the uptake of these molecules from the gut, to their reabsortion in the kidney proximal tubulues, and to their distribution to cells in whi...
  • Basigin interactions, organism-specific biosystem (from REACTOME)
    Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ94301

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-cystine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
neutral amino acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide antigen binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
L-cystine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
amino acid transport TAS
Traceable Author Statement
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
neutral amino acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
B(0,+)-type amino acid transporter 1
Names
b(0,+)AT
glycoprotein-associated amino acid transporter b0,+AT1
solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008258.1 RefSeqGene

    Range
    5001..44267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126335.1NP_001119807.1  B(0,+)-type amino acid transporter 1

    See identical proteins and their annotated locations for NP_001119807.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AK313708, BP276659, CK300669
    Consensus CDS
    CCDS12425.1
    UniProtKB/Swiss-Prot
    P82251
    Related
    ENSP00000468439, OTTHUMP00000263835, ENST00000587772, OTTHUMT00000450587
    Conserved Domains (2) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
    cl00456
    Location:63364
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_001243036.1NP_001229965.1  B(0,+)-type amino acid transporter 1

    See identical proteins and their annotated locations for NP_001229965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AF141289, AK313708, BC017962, BP276659
    Consensus CDS
    CCDS12425.1
    UniProtKB/Swiss-Prot
    P82251
    Related
    ENSP00000464822, OTTHUMP00000263831, ENST00000590341, OTTHUMT00000450583
    Conserved Domains (2) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
    cl00456
    Location:63364
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_014270.4NP_055085.1  B(0,+)-type amino acid transporter 1

    See identical proteins and their annotated locations for NP_055085.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AK026446, BC017962, BP276659
    Consensus CDS
    CCDS12425.1
    UniProtKB/Swiss-Prot
    P82251
    Related
    ENSP00000023064, OTTHUMP00000263833, ENST00000023064, OTTHUMT00000450585
    Conserved Domains (2) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
    cl00456
    Location:63364
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    32830511..32870167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526402.1XP_011524704.1  

    See identical proteins and their annotated locations for XP_011524704.1

    UniProtKB/Swiss-Prot
    P82251
    Conserved Domains (2) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
    cl00456
    Location:63364
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. XM_006722992.1XP_006723055.1  

    Conserved Domains (1) summary
    TIGR00911
    Location:9257
    2A0308; L-type amino acid transporter

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    33322523..33361817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)