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Gfpt1 Gene Detail
Summary
  • Symbol
    Gfpt1
  • Name
    glutamine fructose-6-phosphate transaminase 1
  • Synonyms
    2810423A18Rik, GFA, GFAT, GFAT1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95698
    NCBI Gene: 14583
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:87019828-87069179 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 37.81 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    324 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95698
 protein coding gene Chr6:87019828-87069189 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030986
 protein coding gene Chr6:88380685-88429728 (+)
A/J MGP_AJ_G0030952
 protein coding gene Chr6:84962113-85011934 (+)
AKR/J MGP_AKRJ_G0030883
 protein coding gene Chr6:87428439-87485493 (+)
BALB/cJ MGP_BALBcJ_G0030965
 protein coding gene Chr6:84972070-85022219 (+)
C3H/HeJ MGP_C3HHeJ_G0030745
 protein coding gene Chr6:97002226-97053290 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031422
 protein coding gene Chr6:90766836-90817293 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028606
 protein coding gene Chr6:83142402-83192108 (+)
CAST/EiJ MGP_CASTEiJ_G0030074
 protein coding gene Chr6:87489318-87541091 (+)
CBA/J MGP_CBAJ_G0030649
 protein coding gene Chr6:94320421-94372895 (+)
DBA/2J MGP_DBA2J_G0030805
 protein coding gene Chr6:84271439-84320363 (+)
FVB/NJ MGP_FVBNJ_G0030758
 protein coding gene Chr6:83453778-83502704 (+)
LP/J MGP_LPJ_G0030882
 protein coding gene Chr6:88399567-88450682 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030791
 protein coding gene Chr6:98428120-98480678 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031449
 protein coding gene Chr6:87260793-87316487 (+)
PWK/PhJ MGP_PWKPhJ_G0029789
 protein coding gene Chr6:83229778-83279517 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029617
 protein coding gene Chr6:86090241-86137991 (+)
WSB/EiJ MGP_WSBEiJ_G0030155
 protein coding gene Chr6:87729419-87785209 (+)



Homology
more
  • Human Ortholog
    GFPT1, glutamine--fructose-6-phosphate transaminase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GFPT1, glutamine--fructose-6-phosphate transaminase 1
  • Synonyms
    CMS12, CMSTA1, GFA, GFAT, GFAT1, GFAT 1, GFAT1m, GFPT, GFPT1L, MSLG
  • Links
    NCBI Gene ID: 2673
    neXtProt AC: NX_Q06210
    UniProt: Q06210

  • Chr Location
    2p13.3; chr2:69319780-69387250 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gfpt1 mouse models; 2 with human GFPT1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 2 alleles in 2 genetic backgrounds
    17 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    8
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
non-membrane-bounded 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
    915
  • Tissues
    190
  • cDNA Data
    145
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029992 Ensembl Gene Model | MGI Sequence Detail 49352 C57BL/6J ±  kb
    transcript ENSMUST00000032057 Ensembl | MGI Sequence Detail 2286 Not Applicable  
    polypeptide ENSMUSP00000032057 Ensembl | MGI Sequence Detail 697 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000007946 glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
      (term hierarchy)
    • EC
      2.6.1.16
    • InterPro Domains
      IPR035466 GlmS/AgaS, SIS domain 1
      IPR035490 GlmS/FrlB, SIS domain 2
      IPR005855 Glucosamine-fructose-6-phosphate aminotransferase, isomerising
      IPR047084 Glucosamine-fructose-6-phosphate aminotransferase, isomerising, N-terminal domain
      IPR017932 Glutamine amidotransferase type 2 domain
      IPR029055 Nucleophile aminohydrolases, N-terminal
      IPR001347 SIS domain
      IPR046348 SIS domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 155
      Genomic 3
      cDNA 148
      Primer pair 3
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-10056, MGI:1889798, MGI:1919428, MGI:2141417
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 8
      Phenotypes 17
    • Earliest
      J:17432 Sayeski PP, et al., The murine glutamine:fructose-6-phosphate amidotransferase-encoding cDNA sequence. Gene. 1994 Mar 25;140(2):289-90
    • Latest
      J:341229 Farshadyeganeh P, et al., Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction. iScience. 2023 Oct 20;26(10):107746
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory