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Slc2a1 Gene Detail
Summary
  • Symbol
    Slc2a1
  • Name
    solute carrier family 2 (facilitated glucose transporter), member 1
  • Synonyms
    Glut1, Glut-1, M100200, Rgsc200
  • Feature Type
    protein coding gene
  • IDs
    MGI:95755
    NCBI Gene: 20525
  • Gene Overview
    MyGene.info: SLC2A1
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:119108745-119137330 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4,
  • Mapping Data
    30 experiments
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95755
 protein coding gene Chr4:119108711-119137983 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028687
 protein coding gene Chr4:120287583-120317096 (+)
A/J MGP_AJ_G0028647
 protein coding gene Chr4:115562526-115591790 (+)
AKR/J MGP_AKRJ_G0028600
 protein coding gene Chr4:118071842-118101102 (+)
BALB/cJ MGP_BALBcJ_G0028670
 protein coding gene Chr4:116177356-116207483 (+)
C3H/HeJ MGP_C3HHeJ_G0028385
 protein coding gene Chr4:119635843-119665081 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029111
 protein coding gene Chr4:124860054-124889326 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026388
 protein coding gene Chr4:109662542-109692197 (+)
CAST/EiJ MGP_CASTEiJ_G0027816
 protein coding gene Chr4:116951653-116980957 (+)
CBA/J MGP_CBAJ_G0028352
 protein coding gene Chr4:128223263-128252477 (+)
DBA/2J MGP_DBA2J_G0028499
 protein coding gene Chr4:116153103-116182383 (+)
FVB/NJ MGP_FVBNJ_G0028465
 protein coding gene Chr4:114665564-114695069 (+)
LP/J MGP_LPJ_G0028599
 protein coding gene Chr4:120395931-120425146 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028493
 protein coding gene Chr4:133103225-133132508 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029148
 protein coding gene Chr4:119146156-119175407 (+)
PWK/PhJ MGP_PWKPhJ_G0027539
 protein coding gene Chr4:113072834-113102262 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027365
 protein coding gene Chr4:115560296-115594299 (+)
WSB/EiJ MGP_WSBEiJ_G0027896
 protein coding gene Chr4:119144548-119173785 (+)



Homology
more
  • Human Ortholog
    SLC2A1, solute carrier family 2 member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC2A1, solute carrier family 2 member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT1, GLUT-1, GLUT1DS, HTLVR, PED, SDCHCN
  • Links
    NCBI Gene ID: 6513
    neXtProt AC: NX_P11166
    UniProt: P11166

  • Chr Location
    1p34.2; chr1:42925375-42959176 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    3 with human SLC2A1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    20 phenotypes from multigenic genotypes
    1 images
    55 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.
Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    63
  • GO References
    16
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 population 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
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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
    1151
  • Tissues
    140
  • cDNA Data
    310
  • Literature Summary
    112
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20525 NCBI Gene Model | MGI Sequence Detail 28586 C57BL/6J ±  kb
    transcript NM_011400 RefSeq | MGI Sequence Detail 2573 C57BL/6  
    polypeptide P17809 UniProt | EBI | MGI Sequence Detail 492 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000015058 solute carrier family 2, facilitated glucose transporter member 1
      (term hierarchy)
    • InterPro Domains
      IPR002439 Glucose transporter, type 1 (GLUT1)
      IPR005828 Major facilitator, sugar transporter-like
      IPR020846 Major facilitator superfamily domain
      IPR036259 MFS transporter superfamily
      IPR003663 Sugar/inositol transporter
      IPR005829 Sugar transporter, conserved site
    Molecular
    Reagents
    less
    • All nucleic 331
      Genomic 3
      cDNA 313
      Primer pair 13
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10155, MGD-MRK-10159, MGI:3811854
    References
    more
    • Summaries
      All 293
      Developmental Gene Expression 112
      Gene Ontology 16
      Phenotypes 55
    • Earliest
      J:16692 Kaestner KH, et al., Sequence, tissue distribution, and differential expression of mRNA for a putative insulin-responsive glucose transporter in mouse 3T3-L1 adipocytes [published erratum appears in Proc Natl Acad Sci U S A 1989 Jul;86(13):4937]. Proc Natl Acad Sci U S A. 1989 May;86(9):3150-4
    • Latest
      J:294228 Kalailingam P, et al., Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome. J Clin Invest. 2020 Aug 3;130(8):4081-4093
    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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    10/13/2020
    MGI 6.16     		The Jackson Laboratory