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Slc7a9
Gene Detail
 Symbol
Name
ID
Slc7a9
solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
MGI:1353656
Synonyms bo, + amino acid transporter, bo, +AT, CSNU3
Feature Type protein coding gene
Genetic Map
Chromosome 7
21.37 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:35449037-35466036 bp, + strand
From VEGA annotation of GRCm38

  17000 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56668  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: amino acid transporter
Gene Tree: Slc7a9

Human
homologs
Human Homolog SLC7A9, solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
NCBI Gene ID 11136
neXtProt AC  NX_P82251
Human Synonyms  BAT1, CSNU3
Human Chr (Location)  19q13.1; chr19:32830511-32869777 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC7A9
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(3) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria.
 
Human Diseases Modeled Using Mouse Slc7a9 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Slc7a9 interacts with 93 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process amino acid transmembrane transport, amino acid transport, ...
Component brush border membrane, integral component of membrane, ...
Function amino acid transmembrane transporter activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (72)    Tissues (65)    Images (12)
Theiler Stages: 23, 26, 28
Assay TypeResults
RNA in situ 72
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(8) cDNA(8)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031618 (Evidence)
Ensembl Gene ModelENSMUSG00000030492 (Evidence)
Entrez Gene30962 (Evidence)
DFCITC1582925
DoTSDT.110982174, DT.40177938, DT.91446987, DT.94181068
NIA Mouse Gene IndexU007969
Consensus CDS ProjectCCDS21150.1
International Mouse Knockout Project StatusSlc7a9
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031618 VEGA Gene Model | MGI Sequence Detail 17000 C57BL/6J ±  kb
transcript OTTMUST00000078323 VEGA | MGI Sequence Detail 1940 Not Applicable 
polypeptide OTTMUSP00000041638 VEGA | MGI Sequence Detail 487 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(14) UniProt(3)
Polymorphisms SNPs within 2kb(139 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002293 Amino acid/polyamine transporter I
Protein Ontology PR:000015206 B(0,+)-type amino acid transporter 1
References (Earliest) J:58992 Pfeiffer R, et al., Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell. 1999 Dec;10(12):4135-47
(Latest) J:204580 Giacopo AD, et al., Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice. Am J Physiol Renal Physiol. 2013 Dec;305(12):F1645-55
All references(32)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory