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

Gene ID: 11136, updated on 6-Sep-2021

Summary

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 MIM:604144
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]
Expression
Biased expression in small intestine (RPKM 31.7), duodenum (RPKM 21.2) and 2 other tissues See more
Orthologs
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Genomic context

See SLC7A9 in Genome Data Viewer
Location:
19q13.11
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (32830511..32870957, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33321417..33360673, 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 transcription factor 1 pseudogene Neighboring gene RN7SK pseudogene 22 Neighboring gene centrosomal protein 89 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene FA core complex associated protein 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of metabolic traits in human urine.
GeneReviews: Not available
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Cystinuria
MedGen: C0010691 OMIM: 220100 GeneReviews: Not available
not available
Genetic loci influencing kidney function and chronic kidney disease.
GeneReviews: Not available
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94301

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables L-cystine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables L-cystine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables neutral amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables neutral amino acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables peptide antigen binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in L-alpha-amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in L-cystine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in L-cystine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neutral amino acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5011..44267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001126335.2NP_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
    ENSP00000468439.1, ENST00000587772.1
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
  2. NM_001243036.2NP_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
    ENSP00000464822.1, ENST00000590341.5
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
  3. NM_014270.5NP_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
    ENSP00000023064.3, ENST00000023064.9
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    32830511..32870957 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526402.3XP_011524704.1  B(0,+)-type amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_011524704.1

    UniProtKB/Swiss-Prot
    P82251
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
  2. XM_006722992.1XP_006723055.1  B(0,+)-type amino acid transporter 1 isoform X4

    Conserved Domains (1) summary
    TIGR00911
    Location:9257
    2A0308; L-type amino acid transporter
  3. XM_017026230.1XP_016881719.1  B(0,+)-type amino acid transporter 1 isoform X2

  4. XM_024451334.1XP_024307102.1  B(0,+)-type amino acid transporter 1 isoform X3

    Conserved Domains (1) summary
    cl26159
    Location:36275
    AA_permease_2; Amino acid permease
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