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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:85335804-85371664 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 55.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1106 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1195264
 protein coding gene Chr17:85335775-85371669 (+)
129S1/SvImJ ENSMUSG00200023184
 protein coding gene Chr17:80738151-80774070 (+)
A/J ENSMUSG00195028457
 protein coding gene Chr17:82111576-82147495 (+)
AKR/J ENSMUSG00220013488
 protein coding gene Chr17:81068234-81104203 (+)
BALB/cJ ENSMUSG00180024888
 protein coding gene Chr17:81784761-81820635 (+)
C3H/HeJ ENSMUSG00175006564
 protein coding gene Chr17:81049833-81085740 (+)
C57BL/6NJ ENSMUSG00215011801
 protein coding gene Chr17:80778060-80813936 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021929
 protein coding gene Chr17:80625938-80661031 (+)
CAST/EiJ ENSTCUG00005011746
 protein coding gene Chr17:81611241-81647401 (+)
CBA/J ENSMUSG00210019950
 protein coding gene Chr17:80908606-80944509 (+)
DBA/2J ENSMUSG00185019811
 protein coding gene Chr17:83724584-83760453 (+)
FVB/NJ ENSMUSG00205005945
 protein coding gene Chr17:81537535-81573575 (+)
JF1/MsJ ENSUMUG00000011012
 protein coding gene Chr17:83457882-83494189 (+)
LP/J ENSMUSG00230009226
 protein coding gene Chr17:84756559-84792462 (+)
NOD/ShiLtJ ENSMUSG00190009744
 protein coding gene Chr17:80805196-80841206 (+)
NZO/HlLtJ ENSMUSG00225030002
 protein coding gene Chr17:87014198-87050001 (+)
PWK/PhJ ENSLUMG00010004886
 protein coding gene Chr17:80671535-80707578 (+)
SPRET/EiJ ENSMSPG00010007680
 protein coding gene Chr17:81250231-81286345 (+)
WSB/EiJ ENSIUOG00005021084
 protein coding gene Chr17:81729515-81765496 (+)



Homology
more
  • Human Ortholog
    SLC3A1, solute carrier family 3 member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC3A1, solute carrier family 3 member 1
  • Synonyms
    ATR1, CSNU1, D2H, NBAT, RBAT
  • Links
    NCBI Gene ID: 6519
    UniProt: Q07837

  • Chr Location
    2p21; chr2:44275458-44322437 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc3a1 mouse models; 1 with human SLC3A1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 4 alleles in 5 genetic backgrounds
    1 phenotype from multigenic genotypes
    22 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
less
  • All GO Annotations
    32
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1104
  • Tissues
    338
  • cDNA Data
    11
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024131 Ensembl Gene Model | MGI Sequence Detail 35861 C57BL/6J ±  kb
    transcript ENSMUST00000024944 Ensembl | MGI Sequence Detail 2271 Not Applicable  
    polypeptide ENSMUSP00000024944 Ensembl | MGI Sequence Detail 685 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000015137 amino acid transporter heavy chain SLC3A1
      (term hierarchy)
    • InterPro Domains
      IPR017853 Glycoside hydrolase superfamily
      IPR013780 Glycosyl hydrolase, all-beta
      IPR006047 Glycosyl hydrolase family 13, catalytic domain
      IPR045857 Oligo-1,6-glucosidase, domain 2
    • GlyGen
      Q91WV7 6 sites, 14 N-linked glycans (1 site)
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 11
      Phenotypes 22
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory