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Aliases for SLC7A9 Gene

Aliases for SLC7A9 Gene

  • Solute Carrier Family 7 Member 9 2 3 4 5
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Bo,+ System), Member 9 2 3
  • Glycoprotein-Associated Amino Acid Transporter B0,+AT1 3 4
  • BAT1 3 4
  • Solute Carrier Family 7 (Glycoprotein-Associated Amino Acid Transporter Light Chain, Bo,+ System), Member 9 3
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 3
  • B(0,+)-Type Amino Acid Transporter 1 3
  • B(0,+)AT1 4
  • B(0,+)AT 3
  • CSNU3 3

External Ids for SLC7A9 Gene

Previous HGNC Symbols for SLC7A9 Gene

  • CSNU3

Previous GeneCards Identifiers for SLC7A9 Gene

  • GC19M033939
  • GC19M033770
  • GC19M037997
  • GC19M038013
  • GC19M033321
  • GC19M029823

Summaries for SLC7A9 Gene

Entrez Gene Summary for SLC7A9 Gene

  • 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]

GeneCards Summary for SLC7A9 Gene

SLC7A9 (Solute Carrier Family 7 Member 9) is a Protein Coding gene. Diseases associated with SLC7A9 include Cystinuria and Amino Acid Metabolic Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. GO annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A5.

UniProtKB/Swiss-Prot for SLC7A9 Gene

  • Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A9 Gene

Genomics for SLC7A9 Gene

Regulatory Elements for SLC7A9 Gene

Enhancers for SLC7A9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G032902 0.8 ENCODE 26.8 -32.5 -32450 1.2 ZSCAN4 GLIS2 SP5 MXD4 REST MIER2 NFIL3 MYNN GLIS1 ZBTB17 SLC7A9 FAAP24 GC19P032905 GC19P032875
GH19G032793 1 Ensembl ENCODE 18.6 +75.7 75685 2.3 PKNOX1 TFAP4 ZSCAN26 MAX ZNF384 CEBPG RARA ZNF121 NR2F6 ZNF600 NUDT19 SLC7A9 ENSG00000267475 CEP89 PIR46993 GC19M032770
GH19G032868 0.8 ENCODE 22.5 +0.2 231 2.6 TBP ARID4B RAD21 RARA YY1 SCRT2 MIXL1 REST NR2F2 KAT8 SLC7A9 NUDT19 FAAP24 RGS9BP ANKRD27 CHST8 GC19M032863 RN7SKP22
GH19G032691 1.2 ENCODE 13.4 +177.9 177948 3.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 GPATCH1 NUDT19 ENSG00000267475 FAAP24 SLC7A9 CHST8 PDCD5 TDRD12 PIR48211
GH19G032977 0.7 Ensembl ENCODE 19.5 -107.4 -107360 0.7 HNF4A FOS NR3C1 SLC7A9 FAAP24 WDR88 GC19P032992
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC7A9 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A9 Gene

Chromosome:
19
Start:
32,830,509 bp from pter
End:
32,870,167 bp from pter
Size:
39,659 bases
Orientation:
Minus strand

Genomic View for SLC7A9 Gene

Genes around SLC7A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A9 Gene

Proteins for SLC7A9 Gene

  • Protein details for SLC7A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P82251-BAT1_HUMAN
    Recommended name:
    b(0,+)-type amino acid transporter 1
    Protein Accession:
    P82251
    Secondary Accessions:
    • B2R9A6

    Protein attributes for SLC7A9 Gene

    Size:
    487 amino acids
    Molecular mass:
    53481 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1.

neXtProt entry for SLC7A9 Gene

Post-translational modifications for SLC7A9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC7A9 Gene

Domains & Families for SLC7A9 Gene

Gene Families for SLC7A9 Gene

Protein Domains for SLC7A9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P82251

UniProtKB/Swiss-Prot:

BAT1_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily.
genes like me logo Genes that share domains with SLC7A9: view

Function for SLC7A9 Gene

Molecular function for SLC7A9 Gene

GENATLAS Biochemistry:
solute carrier family,member A9,amino acid transporter,expressed in kidney,liver,small intestine and placenta,BO+AT subunit heterodimerizing with 2BAT (SLC3A1) located in the brush border of the plasma membrane of epithelial cells of the proximal straight tubule of the nephron,mediating high affinity y+L-type transporter exchanging cationic aminoacids and/or neutral aminoacids,sodium independent transport system for cationic and dipolar aminoacids
UniProtKB/Swiss-Prot Function:
Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.

Gene Ontology (GO) - Molecular Function for SLC7A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12167606
GO:0015171 amino acid transmembrane transporter activity IEA --
GO:0015175 neutral amino acid transmembrane transporter activity IMP 16609684
GO:0015184 L-cystine transmembrane transporter activity IMP 16609684
GO:0015297 antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC7A9: view
genes like me logo Genes that share phenotypes with SLC7A9: view

Human Phenotype Ontology for SLC7A9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC7A9 Gene

MGI Knock Outs for SLC7A9:

Animal Model Products

CRISPR Products

miRNA for SLC7A9 Gene

miRTarBase miRNAs that target SLC7A9

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC7A9 Gene

Localization for SLC7A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A9 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC7A9 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC7A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10471498
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IDA,IEA 16609684
genes like me logo Genes that share ontologies with SLC7A9: view

Pathways & Interactions for SLC7A9 Gene

genes like me logo Genes that share pathways with SLC7A9: view

Gene Ontology (GO) - Biological Process for SLC7A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006461 protein complex assembly TAS 10799513
GO:0006810 transport IEA --
GO:0006865 amino acid transport TAS --
GO:0015804 neutral amino acid transport IMP 16609684
genes like me logo Genes that share ontologies with SLC7A9: view

No data available for SIGNOR curated interactions for SLC7A9 Gene

Drugs & Compounds for SLC7A9 Gene

(1) Drugs for SLC7A9 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cystine Approved Nutra Target 0

(2) Additional Compounds for SLC7A9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC7A9: view

Transcripts for SLC7A9 Gene

Unigene Clusters for SLC7A9 Gene

Solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A9 Gene

No ASD Table

Relevant External Links for SLC7A9 Gene

GeneLoc Exon Structure for
SLC7A9
ECgene alternative splicing isoforms for
SLC7A9

Expression for SLC7A9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC7A9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A9 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x29.9), Kidney - Cortex (x6.6), and Liver (x5.0).

Protein differential expression in normal tissues from HIPED for SLC7A9 Gene

This gene is overexpressed in Liver (59.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC7A9 Gene



Protein tissue co-expression partners for SLC7A9 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC7A9 Gene:

SLC7A9

SOURCE GeneReport for Unigene cluster for SLC7A9 Gene:

Hs.743345

mRNA Expression by UniProt/SwissProt for SLC7A9 Gene:

P82251-BAT1_HUMAN
Tissue specificity: Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.

Evidence on tissue expression from TISSUES for SLC7A9 Gene

  • Kidney(4.6)
  • Intestine(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A9 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urethra
  • urinary bladder
General:
  • blood
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with SLC7A9: view

Primer Products

Orthologs for SLC7A9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC7A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC7A9 34 35
  • 98.84 (n)
dog
(Canis familiaris)
Mammalia SLC7A9 34 35
  • 85.97 (n)
cow
(Bos Taurus)
Mammalia SLC7A9 34 35
  • 85.22 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC7A9 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A9 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a9 34 16 35
  • 83.44 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a9 34
  • 83.44 (n)
chicken
(Gallus gallus)
Aves SLC7A9 34 35
  • 71.18 (n)
lizard
(Anolis carolinensis)
Reptilia SLC7A9 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a9 34
  • 70.36 (n)
zebrafish
(Danio rerio)
Actinopterygii slc7a9 34 35
  • 67.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9413 36 34 35
  • 57.12 (n)
JhI-21 36
  • 46 (a)
CG6070 36
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001870 34
  • 56.49 (n)
worm
(Caenorhabditis elegans)
Secernentea F27C8.1 36
  • 42 (a)
F07C3.7 36
  • 38 (a)
T11F9.4 36
  • 34 (a)
F54D12.3 36
  • 33 (a)
Y53H1C.1 36
  • 33 (a)
T13A10.10 36
  • 32 (a)
C55C2.5a 36
  • 30 (a)
C55C2.5b 36
  • 30 (a)
aat-7 35
  • 30 (a)
ManyToMany
aat-8 35
  • 30 (a)
ManyToMany
aat-4 35
  • 29 (a)
ManyToMany
aat-6 35
  • 28 (a)
ManyToMany
aat-9 35
  • 27 (a)
ManyToMany
aat-5 35
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MUP1 35 37
  • 21 (a)
ManyToMany
MUP3 35
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
CSA.638 35
  • 47 (a)
OneToMany
CSA.1308 35
  • 38 (a)
OneToMany
Species where no ortholog for SLC7A9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC7A9 Gene

ENSEMBL:
Gene Tree for SLC7A9 (if available)
TreeFam:
Gene Tree for SLC7A9 (if available)

Paralogs for SLC7A9 Gene

Paralogs for SLC7A9 Gene

(9) SIMAP similar genes for SLC7A9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC7A9: view

Variants for SLC7A9 Gene

Sequence variations from dbSNP and Humsavar for SLC7A9 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121908479 Pathogenic, Cystinuria (CSNU) [MIM:220100] 32,862,557(-) TGAGC(A/G)TGCGG intron-variant, reference, missense
rs121908480 Pathogenic, Cystinuria (CSNU) [MIM:220100] 32,864,261(-) CCTAC(A/G)GGCCC reference, missense, utr-variant-5-prime
rs121908482 Pathogenic, Cystinuria (CSNU) [MIM:220100] 32,862,482(-) TCAGC(A/G)GGCTG intron-variant, reference, missense
rs121908483 Pathogenic, Cystinuria (CSNU) [MIM:220100] 32,859,939(-) TCATC(A/G)GGATC reference, missense
rs121908484 Pathogenic, Cystinuria (CSNU) [MIM:220100] 32,843,932(-) CGGGC(C/T)GGGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC7A9 Gene

Variant ID Type Subtype PubMed ID
esv3644178 CNV loss 21293372
esv3644179 CNV loss 21293372
nsv1060014 CNV gain 25217958
nsv1062926 CNV loss 25217958
nsv516922 CNV loss 19592680

Variation tolerance for SLC7A9 Gene

Residual Variation Intolerance Score: 49.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.78; 89.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A9 Gene

Human Gene Mutation Database (HGMD)
SLC7A9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A9 Gene

Disorders for SLC7A9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC7A9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystinuria
  • csnu
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
aminoaciduria
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BAT1_HUMAN
  • Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269 PubMed:10471498, ECO:0000269 PubMed:11157794, ECO:0000269 PubMed:12234283, ECO:0000269 PubMed:12371955, ECO:0000269 PubMed:12820697, ECO:0000269 PubMed:15635077, ECO:0000269 PubMed:16138908, ECO:0000269 PubMed:16609684, ECO:0000269 PubMed:18752446, ECO:0000269 PubMed:19782624}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC7A9

Genetic Association Database (GAD)
SLC7A9
Human Genome Epidemiology (HuGE) Navigator
SLC7A9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A9
genes like me logo Genes that share disorders with SLC7A9: view

No data available for Genatlas for SLC7A9 Gene

Publications for SLC7A9 Gene

  1. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. (PMID: 19782624) Bisceglia L. … Zelante L. (Mol. Genet. Metab. 2010) 3 4 22 46 64
  2. A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. (PMID: 16609684) Shigeta Y. … Endou H. (Kidney Int. 2006) 3 4 22 46 64
  3. Mutation analysis of SLC7A9 in cystinuria patients in Sweden. (PMID: 12820697) Harnevik L. … Soderkvist P. (Genet. Test. 2003) 3 4 22 46 64
  4. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. (PMID: 10471498) Feliubadalo L. … Palacin M. (Nat. Genet. 1999) 2 3 4 22 64
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 22 46 64

Products for SLC7A9 Gene

Sources for SLC7A9 Gene

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