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SLC7A9 - solute carrier family 7 member 9 (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2025-01-17
Description
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]
Enables L-cystine transmembrane transporter activity; broad specificity neutral L-amino acid:basic L-amino acid antiporter activity; and protein heterodimerization activity. Involved in L-cystine transport. Located in apical plasma membrane and brush border membrane. Implicated in cystinuria.
The SLC7A9 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein subunit, produced from the SLC3A1 gene, to form a transporter protein complex. During the process of urine formation in the kidneys, this protein complex absorbs particular protein building blocks (amino acids) back into the blood. In particular, the amino acids cystine, ornithine, arginine, and lysine are absorbed back into the blood through this mechanism.

1 Names and Identifiers

1.1 Synonyms

  • BAT1
  • CSNU3
  • B(0,+)-type amino acid transporter 1
  • 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

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 GenCC ID

1.2.6 KEGG Gene

1.2.7 MIM Number

1.2.8 NCI Thesaurus Code

1.2.9 Open Targets ID

1.2.10 PharmGKB ID

1.2.11 Pharos Target

1.2.12 VEuPathDB ID

1.2.13 Wikidata

3 Proteins

3.1 Protein Function

Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PMID: 16825196, PMID: 32494597, PMID: 32817565, PMID: 8663357). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PMID: 16825196, PMID: 32494597, PMID: 8663357). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine (PMID: 8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules.

3.2 Protein 3D Structures

3.2.1 PDB Structures

3.2.2 NCBI Protein Structures

3.2.3 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.3 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Diseases and Phenotypes

5.1 GHR Health Conditions

5.2 KEGG Diseases

5.3 OMIM Phenotypes

5.4 MedGen Diseases

5.5 Gene-Disease Associations

6 Interactions and Pathways

6.1 Chemical-Gene Interactions

6.2 Interactions

6.3 Pathways

7 Biochemical Reactions

8 Expression

9 Target Development Level

10 Literature

10.1 Consolidated References

10.2 Gene-Chemical Co-Occurrences in Literature

10.3 Gene-Gene Co-Occurrences in Literature

10.4 Gene-Disease Co-Occurrences in Literature

11 Patents

11.1 Gene-Chemical Co-Occurrences in Patents

11.2 Gene-Gene Co-Occurrences in Patents

11.3 Gene-Disease Co-Occurrences in Patents

12 Classification

12.1 Gene Family

12.2 NCI Thesaurus Tree

12.3 Gene Ontology: Biological Process

12.4 Gene Ontology: Cellular Component

12.5 Gene Ontology: Molecular Function

13 Information Sources

  1. NCBI Gene
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  2. PubChem
  3. Alliance of Genome Resources
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    https://www.alliancegenome.org/privacy-warranty-licensing
  4. MedlinePlus Genetics
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  5. BioGRID
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    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  6. STRING: functional protein association networks
  7. Comparative Toxicogenomics Database (CTD)
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    It is to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of NC State University.
    http://ctdbase.org/about/legal.jsp
  8. DrugBank
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    https://www.drugbank.ca/legal/terms_of_use
  9. Open Targets
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    Datasets generated by the Open Targets Platform are freely available for download.
    https://platform-docs.opentargets.org/licence
  10. Gene Curation Coalition (GenCC)
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    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    SLC7A9
  11. HUGO Gene Nomenclature Committee (HGNC)
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    No restrictions are imposed on access to, or use of, the data provided by the HGNC, which are provided to enhance knowledge and encourage progress in the scientific community.
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  12. KEGG
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    https://www.kegg.jp/kegg/legal.html
  13. NCBI Gene Expression Omnibus (GEO)
  14. NCBI MedGen
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  15. NCBI Structure
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  16. NCI Thesaurus (NCIt)
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    https://www.cancer.gov/policies/copyright-reuse
  17. Online Mendelian Inheritance in Man (OMIM)
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    https://omim.org/help/copyright
  18. PharmGKB
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    PharmGKB data are subject to the Creative Commons Attribution-ShareALike 4.0 license (https://creativecommons.org/licenses/by-sa/4.0/).
    https://www.pharmgkb.org/page/policies
  19. Pharos
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    Data accessed from Pharos and TCRD is publicly available from the primary sources listed above. Please respect their individual licenses regarding proper use and redistribution.
    https://pharos.nih.gov/about
  20. RCSB Protein Data Bank (RCSB PDB)
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    Data files contained in the PDB archive (ftp://ftp.wwpdb.org) are free of all copyright restrictions and made fully and freely available for both non-commercial and commercial use. Users of the data should attribute the original authors of that structural data.
    https://www.rcsb.org/pages/policies
  21. Swiss Institute of Bioinformatics Bgee
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    Creative Commons Zero license (CC0)
    https://www.bgee.org/about/
  22. UniProt
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    https://www.uniprot.org/help/license
  23. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  24. Wikidata
  25. Gene Ontology (GO)
    LICENSE
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    http://geneontology.org/docs/go-citation-policy/
  26. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
  27. Rhea - annotated reactions database
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    Rhea has chosen to apply the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/). This means that you are free to copy, distribute, display and make commercial use of the database in all legislations, provided you credit (cite) Rhea.
    https://www.rhea-db.org/help/license-disclaimer
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