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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
  • Gene Overview
    MyGene.info: GFPT1
Location & Maps
more
  • Sequence Map
    Chr6:87042846-87092197 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      49352 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 37.81 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    GFPT1, glutamine--fructose-6-phosphate transaminase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GFPT1, glutamine--fructose-6-phosphate transaminase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMS12, CMSTA1, GFA, GFAT, GFAT1, GFAT 1, GFAT1m, GFPT, GFPT1L, MSLG
  • Links
    NCBI Gene ID: 2673
    neXtProt AC: NX_Q06210

  • Chr Location
    2p13; chr2:69319769-69387254 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human GFPT1 associations

Human Disease Mouse Models
       Myasthenic Syndrome, Congenital, 12; CMS12   OMIM: 610542
Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency; CMS4C   OMIM: 608931
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    9 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
    11
  • Gene trapped
    6
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Gfpt1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022939 VEGA Gene Model | MGI Sequence Detail 49352 C57BL/6J ±  kb
transcript OTTMUST00000055170 VEGA | MGI Sequence Detail 2286 Not Applicable  
polypeptide OTTMUSP00000026385 VEGA | MGI Sequence Detail 697 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    324 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007946 glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
  • EC
  • InterPro Domains
    IPR005855 Glucosamine-fructose-6-phosphate aminotransferase, isomerising
    IPR017932 Glutamine amidotransferase type 2 domain
    IPR029055 Nucleophile aminohydrolases, N-terminal
    IPR001347 Sugar isomerase (SIS)
Molecular
Reagents
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  • All nucleic 154
    Genomic 3
    cDNA 147
    Primer pair 3
    Other 1

    Microarray probesets 9
Other
Accession IDs
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MGD-MRK-10056, MGI:1889798, MGI:1919428, MGI:2141417
References
more
  • Summaries
    All 51
    Developmental Gene Expression 4
    Gene Ontology 6
    Phenotypes 9
  • 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:198047 Li MD, et al., O-GlcNAc signaling entrains the circadian clock by inhibiting BMAL1/CLOCK ubiquitination. Cell Metab. 2013 Feb 5;17(2):303-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory