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Slc3a1 Gene Detail
Summary
  • Symbol
    Slc3a1
  • Name
    solute carrier family 3, member 1
  • Synonyms
    D2H, NTAA
  • Feature Type
    protein coding gene
  • IDs
    MGI:1195264
    NCBI Gene: 20532
Location & Maps
more
  • Sequence Map
    Chr17:85028347-85064241 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35895 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SLC3A1, solute carrier family 3 (amino acid transporter heavy chain), member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC3A1, solute carrier family 3 (amino acid transporter heavy chain), member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATR1, CSNU1, D2H, NBAT, RBAT
  • Links
    NCBI Gene ID: 6519
    neXtProt AC: NX_Q07837

  • Chr Location
    2p16.3; chr2:44275458-44320824 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc3a1 mouse models; 1 with human SLC3A1 associations

Human Disease Mouse Models
       Cystinuria   OMIM: 220100 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 1 allele in 2 genetic backgrounds
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Targeted
    5
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    84 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015137 neutral and basic amino acid transport protein rBAT
  • InterPro Domains
    IPR013781 Glycoside hydrolase, catalytic domain
    IPR015902 Glycoside hydrolase, family 13
    IPR017853 Glycoside hydrolase superfamily
    IPR006047 Glycosyl hydrolase, family 13, catalytic domain
    IPR006589 Glycosyl hydrolase, family 13, subfamily, catalytic domain
Molecular
Reagents
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  • All nucleic 11
    cDNA 10
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 36
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 6
    Phenotypes 6
  • 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

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
02/02/2016
MGI 6.02
The Jackson Laboratory