Slc3a1
Gene Detail

Symbol Name ID

Slc3a1 solute carrier family 3, member 1 MGI:1195264

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

Mouse Genome Browser

Vertebrate homology

HomoloGene:37289  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: alpha-glucosidase
Gene Tree: Slc3a1

Human homologs

Human Homolog		SLC3A1, solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
NCBI Gene ID		6519
neXtProt AC		NX_Q07837
Human Synonyms		ATR1, CSNU1, D2H, NBAT, RBAT
Human Chr (Location)		2p16.3; chr2:44502597-44547963 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC3A1

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	amino acid transport
Component	integral to plasma membrane, mitochondrial inner membrane, ...
Function	protein heterodimerization activity

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (411)    Tissues (289)    Images (13)
Theiler Stages: 17, 21, 22, 23, 28

Assay Type	Results
RNA in situ	411

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000024131 (Evidence)
Entrez Gene	20532 (Evidence)
Consensus CDS Project	CCDS37711.1
International Mouse Knockout Project Status	Slc3a1

Sequences

Length	Strain/Species
genomic	20532	NCBI Gene Model | MGI Sequence Detail	35895	C57BL/6J
transcript	NM_009205	RefSeq | MGI Sequence Detail	2307	C57BL/6
polypeptide	NP_033231	RefSeq | MGI Sequence Detail	685	C57BL/6

All sequences(16) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(20 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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

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(31)