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

    Gene ID: 11136, updated on 10-Dec-2024

    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; 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
    Try the new Transcript table

    Genomic context

    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

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 
    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 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
    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

    NCBI Reference Sequences (RefSeq)

    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