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Slc2a1 Gene Detail
Summary
  • Symbol
    Slc2a1
  • Name
    solute carrier family 2 (facilitated glucose transporter), member 1
  • Synonyms
    Glut1, Glut-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95755
    NCBI Gene: 20525
  • Gene Overview
    MyGene.info: SLC2A1
Location & Maps
more
  • Sequence Map
    Chr4:119108711-119137983 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      29273 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 55.34 cM
  • Mapping Data
    30 experiments
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

  • Chr Location
    1p34.2; chr1:42925375-42959176 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human SLC2A1 associations

Human Disease Mouse Models
       Stomatin-Deficient Cryohydrocytosis with Neurologic Defects; SDCHCN   OMIM: 608885
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    20 phenotypes from multigenic genotypes
    1 images
    38 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.
  • All Mutations and Alleles
    78
  • Chemically induced (other)
    2
  • Gene trapped
    65
  • Radiation induced
    1
  • Targeted
    6
  • Transgenic
    4
  • Genomic Mutations
    4 involving Slc2a1
  • Incidental Mutations
    Mutagenetix , APF
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
    51
  • GO References
    11
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
    468
  • Tissues
    120
  • cDNA Data
    309
  • Literature Summary
    84
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008836 VEGA Gene Model | MGI Sequence Detail 29273 C57BL/6J ±  kb
transcript OTTMUST00000020092 VEGA | MGI Sequence Detail 3260 Not Applicable  
polypeptide OTTMUSP00000009212 VEGA | MGI Sequence Detail 492 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    194 from dbSNP Build 142
  • RFLP
    6
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000015058 solute carrier family 2, facilitated glucose transporter member 1
  • InterPro Domains
    IPR002439 Glucose transporter, type 1 (GLUT1)
    IPR005828 Major facilitator, sugar transporter-like
    IPR020846 Major facilitator superfamily domain
    IPR003663 Sugar/inositol transporter
    IPR005829 Sugar transporter, conserved site
Molecular
Reagents
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  • All nucleic 329
    Genomic 3
    cDNA 312
    Primer pair 12
    Other 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-10155, MGD-MRK-10159
References
more
  • Summaries
    All 200
    Developmental Gene Expression 84
    Gene Ontology 11
    Phenotypes 38
  • 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:231825 Phoenix TN, et al., Medulloblastoma Genotype Dictates Blood Brain Barrier Phenotype. Cancer Cell. 2016 Apr 11;29(4):508-22
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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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory