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

Gene ID: 11136, updated on 3-May-2025
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; AllianceGenome:HGNC:11067
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
NEW
Try the new Gene table
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See SLC7A9 in Genome Data Viewer
Location:
19q13.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32830511..32869767, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35349240..35388495, complement)
RS_2024_09 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 LOC124904690 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:33190064-33191263 Neighboring gene nudix hydrolase 19 Neighboring gene tudor domain containing 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14434 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33270291-33271101 Neighboring gene Sharpr-MPRA regulatory region 1108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33302663-33303164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33303165-33303664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33307591-33308186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308187-33308780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308781-33309375 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33312663-33312898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33319941-33320462 Neighboring gene GCM1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33358961-33359536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33360978-33361500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33361501-33362023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33366062-33366947 Neighboring gene RN7SK pseudogene 22 Neighboring gene centrosomal protein 89 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33426525-33427026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33427027-33427526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14436 Neighboring gene ribosomal protein L31 pseudogene 60 Neighboring gene FA core complex associated protein 24

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Cystinuria
MedGen: C0010691 OMIM: 220100 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine.
EBI GWAS Catalog
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ94301

Gene Ontology Provided by GOA

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
 
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
 
involved_in amino acid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in basic amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
B(0,+)-type amino acid transporter 1
Names
b(0,+)AT
cystinuria type 3
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

NEW Try the new Transcript table

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
    B2R9A6, P82251
    UniProtKB/TrEMBL
    Q53FY4
    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
    B2R9A6, P82251
    UniProtKB/TrEMBL
    Q53FY4
    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
    B2R9A6, P82251
    UniProtKB/TrEMBL
    Q53FY4
    Related
    ENSP00000023064.3, ENST00000023064.9
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    32830511..32869767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526402.4XP_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
    B2R9A6, P82251
    UniProtKB/TrEMBL
    Q53FY4
    Conserved Domains (1) summary
    TIGR00911
    Location:26484
    2A0308; L-type amino acid transporter
  2. XM_017026230.1XP_016881719.1  B(0,+)-type amino acid transporter 1 isoform X2

    UniProtKB/TrEMBL
    Q53FY4
  3. XM_047438117.1XP_047294073.1  B(0,+)-type amino acid transporter 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    35349240..35388495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319677.1XP_054175652.1  B(0,+)-type amino acid transporter 1 isoform X1

    UniProtKB/Swiss-Prot
    B2R9A6, P82251
    UniProtKB/TrEMBL
    Q53FY4
  2. XM_054319678.1XP_054175653.1  B(0,+)-type amino acid transporter 1 isoform X2

    UniProtKB/TrEMBL
    Q53FY4
  3. XM_054319679.1XP_054175654.1  B(0,+)-type amino acid transporter 1 isoform X3