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Gene Detail
solute carrier family 3, member 1
Synonyms D2H, NTAA
Feature Type protein coding gene
Genetic Map
Chromosome 17
55.17 cM
Detailed Genetic Map ± 1 cM

Mapping data(3)
Sequence Map
Chr17:85028347-85064241 bp, + strand
From NCBI annotation of GRCm38

  35895 bp   ±  kb flank

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Mouse Genome Browser
HomoloGene:37289  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: alpha-glucosidase
Gene Tree: Slc3a1

Human Homolog SLC3A1, solute carrier family 3 (amino acid transporter heavy chain), member 1
NCBI Gene ID 6519
neXtProt AC  NX_Q07837
Human Synonyms  ATR1, CSNU1, D2H, NBAT, RBAT
Human Chr (Location)  2p16.3; chr2:44275458-44320824 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC3A1
alleles, and
All mutations/alleles(6) : Chemically induced (ENU)(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I.
Human Diseases Modeled Using Mouse Slc3a1 (1)    Alleles Annotated to Human Diseases(1)   
Slc3a1 interacts with 35 markers (Mir96, Mir130a, Mir130b, ...)
Gene Ontology
All GO classifications: (16 annotations)
Process amino acid transport, carbohydrate metabolic process, ...
Component brush border membrane, extracellular vesicular exosome, ...
Function catalytic activity, cation binding, ...
External Resources: FuncBase
Literature Summary: (5 records)
Data Summary: Results (474)    Tissues (324)    Images (15)
Theiler Stages: 17, 21, 22, 23, 26, 28
Assay TypeResults
RNA in situ 474
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(3)
Other database
Ensembl Gene ModelENSMUSG00000024131 (Evidence)
Entrez Gene20532 (Evidence)
Consensus CDS ProjectCCDS37711.1
International Mouse Knockout Project StatusSlc3a1
Representative SequencesLengthStrain/SpeciesFlank
genomic 20532 NCBI Gene Model | MGI Sequence Detail 35895 C57BL/6J ±  kb
transcript NM_009205 RefSeq | MGI Sequence Detail 2307 C57BL/6 
polypeptide Q91WV7 UniProt | EBI | MGI Sequence Detail 685 Not Applicable 

For the selected sequences
All sequences(16) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(84 from dbSNP Build 137)
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR015902 Glycoside hydrolase, family 13
InterPro IPR017853 Glycoside hydrolase, superfamily
InterPro IPR006047 Glycosyl hydrolase, family 13, catalytic domain
InterPro IPR006589 Glycosyl hydrolase, family 13, subfamily, catalytic domain
Protein Ontology PR:000015137 neutral and basic amino acid transport protein rBAT
Graphical View of Protein Domain Structure
References (Earliest) J:4747 Lee WS, et al., Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 1993 May;91(5):1959-63
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(36)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory