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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:85028347-85064241 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 55.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    82 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1195264
protein coding gene Chr17:85028347-85064243 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024085
protein coding gene Chr17:88235218-88281498 (+)
A/J MGP_AJ_G0024044
protein coding gene Chr17:85424473-85460985 (+)
AKR/J MGP_AKRJ_G0024013
protein coding gene Chr17:86822262-86867056 (+)
BALB/cJ MGP_BALBcJ_G0024045
protein coding gene Chr17:85273881-85310637 (+)
C3H/HeJ MGP_C3HHeJ_G0023810
protein coding gene Chr17:87687154-87725540 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024490
protein coding gene Chr17:91360806-91401268 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021929
protein coding gene Chr17:80625938-80661031 (+)
CAST/EiJ MGP_CASTEiJ_G0023289
protein coding gene Chr17:88476920-88519135 (+)
CBA/J MGP_CBAJ_G0023784
protein coding gene Chr17:95142088-95189102 (+)
DBA/2J MGP_DBA2J_G0023912
protein coding gene Chr17:83899100-83936605 (+)
FVB/NJ MGP_FVBNJ_G0023878
protein coding gene Chr17:83393945-83431086 (+)
LP/J MGP_LPJ_G0023996
protein coding gene Chr17:89011063-89048482 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023906
protein coding gene Chr17:95175851-95215003 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024535
protein coding gene Chr17:87315627-87355232 (+)
PWK/PhJ MGP_PWKPhJ_G0023034
protein coding gene Chr17:83483642-83521857 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022845
protein coding gene Chr17:84137306-84179700 (+)
WSB/EiJ MGP_WSBEiJ_G0023355
protein coding gene Chr17:88179922-88225665 (+)



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 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
    36 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 8
      Phenotypes 12
    • 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:254803 Zee T, et al., alpha-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. Nat Med. 2017 Mar;23(3):288-290

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory