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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
  • Gene Overview
    MyGene.info: SLC3A1
  • Alliance
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
  • Genetic Map
    Chromosome 17, 55.17 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC3A1, solute carrier family 3 member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC3A1, solute carrier family 3 member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATR1, CSNU1, D2H, NBAT, RBAT
  • Links
    NCBI Gene ID: 6519
    neXtProt AC: NX_Q07837
    UniProt: Q07837

  • Chr Location
    2p21; chr2:44275458-44320824 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      82 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 6
      Phenotypes 9
    • 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:229937 Nagamori S, et al., Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):775-80

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory