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GFPT1 (glutamine--fructose-6-phosphate transaminase 1)

Identity

Alias_namesGFPT
glutamine-fructose-6-phosphate transaminase 1
Alias_symbol (synonym)GFAT
GFA
GFAT1
Other aliasCMS12
CMSTA1
GFAT 1
GFAT1m
GFPT1L
MSLG
HGNC (Hugo) GFPT1
LocusID (NCBI) 2673
Atlas_Id 63758
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 69546901 and ends at 69614386 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GFPT1 (2p13.3) / EIF2S3 (Xp22.11)GFPT1 (2p13.3) / NFU1 (2p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GFPT1   4241
LRG (Locus Reference Genomic)LRG_787
Cards
Entrez_Gene (NCBI)GFPT1  2673  glutamine--fructose-6-phosphate transaminase 1
AliasesCMS12; CMSTA1; GFA; GFAT; 
GFAT; GFAT1; GFAT1m; GFPT; GFPT1L; MSLG
GeneCards (Weizmann)GFPT1
Ensembl hg19 (Hinxton)ENSG00000198380 [Gene_View]  chr2:69546901-69614386 [Contig_View]  GFPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198380 [Gene_View]  chr2:69546901-69614386 [Contig_View]  GFPT1 [Vega]
ICGC DataPortalENSG00000198380
TCGA cBioPortalGFPT1
AceView (NCBI)GFPT1
Genatlas (Paris)GFPT1
WikiGenes2673
SOURCE (Princeton)GFPT1
Genetics Home Reference (NIH)GFPT1
Genomic and cartography
GoldenPath hg19 (UCSC)GFPT1  -     chr2:69546901-69614386 -  2p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GFPT1  -     2p13.3   [Description]    (hg38-Dec_2013)
EnsemblGFPT1 - 2p13.3 [CytoView hg19]  GFPT1 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIGFPT1 [Mapview hg19]  GFPT1 [Mapview hg38]
OMIM138292   608931   610542   
Gene and transcription
Genbank (Entrez)AF131846 AF334737 AF445027 AW079566 BC045641
RefSeq transcript (Entrez)NM_001244710 NM_002056
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_029542 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)GFPT1
Cluster EST : UnigeneHs.580300 [ NCBI ]
CGAP (NCI)Hs.580300
Alternative Splicing GalleryENSG00000198380
Gene ExpressionGFPT1 [ NCBI-GEO ]   GFPT1 [ EBI - ARRAY_EXPRESS ]   GFPT1 [ SEEK ]   GFPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GFPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2673
GTEX Portal (Tissue expression)GFPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06210   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06210  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06210
Splice isoforms : SwissVarQ06210
Catalytic activity : Enzyme2.6.1.16 [ Enzyme-Expasy ]   2.6.1.162.6.1.16 [ IntEnz-EBI ]   2.6.1.16 [ BRENDA ]   2.6.1.16 [ KEGG ]   
PhosPhoSitePlusQ06210
Domaine pattern : Prosite (Expaxy)GATASE_TYPE_2 (PS51278)    SIS (PS51464)   
Domains : Interpro (EBI)GATase_2_dom    GATase_dom    GlmS_trans    Ntn_hydrolases_N    SIS   
Domain families : Pfam (Sanger)GATase_2 (PF00310)    SIS (PF01380)   
Domain families : Pfam (NCBI)pfam00310    pfam01380   
Conserved Domain (NCBI)GFPT1
DMDM Disease mutations2673
Blocks (Seattle)GFPT1
PDB (SRS)2V4M    2ZJ3    2ZJ4   
PDB (PDBSum)2V4M    2ZJ3    2ZJ4   
PDB (IMB)2V4M    2ZJ3    2ZJ4   
PDB (RSDB)2V4M    2ZJ3    2ZJ4   
Structural Biology KnowledgeBase2V4M    2ZJ3    2ZJ4   
SCOP (Structural Classification of Proteins)2V4M    2ZJ3    2ZJ4   
CATH (Classification of proteins structures)2V4M    2ZJ3    2ZJ4   
SuperfamilyQ06210
Human Protein AtlasENSG00000198380
Peptide AtlasQ06210
HPRD00702
IPIIPI00217952   IPI00299506   IPI00103778   
Protein Interaction databases
DIP (DOE-UCLA)Q06210
IntAct (EBI)Q06210
FunCoupENSG00000198380
BioGRIDGFPT1
STRING (EMBL)GFPT1
ZODIACGFPT1
Ontologies - Pathways
QuickGOQ06210
Ontology : AmiGOglutamine-fructose-6-phosphate transaminase (isomerizing) activity  cytosol  fructose 6-phosphate metabolic process  glucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  energy reserve metabolic process  dolichol-linked oligosaccharide biosynthetic process  glutamine metabolic process  response to sucrose  amino acid binding  protein N-linked glycosylation via asparagine  carbohydrate binding  endoplasmic reticulum unfolded protein response  cellular response to insulin stimulus  circadian regulation of gene expression  IRE1-mediated unfolded protein response  post-translational protein modification  cellular protein metabolic process  negative regulation of glycogen biosynthetic process  protein homotetramerization  extracellular exosome  
Ontology : EGO-EBIglutamine-fructose-6-phosphate transaminase (isomerizing) activity  cytosol  fructose 6-phosphate metabolic process  glucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  energy reserve metabolic process  dolichol-linked oligosaccharide biosynthetic process  glutamine metabolic process  response to sucrose  amino acid binding  protein N-linked glycosylation via asparagine  carbohydrate binding  endoplasmic reticulum unfolded protein response  cellular response to insulin stimulus  circadian regulation of gene expression  IRE1-mediated unfolded protein response  post-translational protein modification  cellular protein metabolic process  negative regulation of glycogen biosynthetic process  protein homotetramerization  extracellular exosome  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkGFPT1
Atlas of Cancer Signalling NetworkGFPT1
Wikipedia pathwaysGFPT1
Orthology - Evolution
OrthoDB2673
GeneTree (enSembl)ENSG00000198380
Phylogenetic Trees/Animal Genes : TreeFamGFPT1
HOVERGENQ06210
HOGENOMQ06210
Homologs : HomoloGeneGFPT1
Homology/Alignments : Family Browser (UCSC)GFPT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGFPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GFPT1
dbVarGFPT1
ClinVarGFPT1
1000_GenomesGFPT1 
Exome Variant ServerGFPT1
ExAC (Exome Aggregation Consortium)GFPT1 (select the gene name)
Genetic variants : HAPMAP2673
Genomic Variants (DGV)GFPT1 [DGVbeta]
DECIPHER (Syndromes)2:69546901-69614386  ENSG00000198380
CONAN: Copy Number AnalysisGFPT1 
Mutations
ICGC Data PortalGFPT1 
TCGA Data PortalGFPT1 
Broad Tumor PortalGFPT1
OASIS PortalGFPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGFPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGFPT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GFPT1
DgiDB (Drug Gene Interaction Database)GFPT1
DoCM (Curated mutations)GFPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GFPT1 (select a term)
intoGenGFPT1
Cancer3DGFPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138292    608931    610542   
Orphanet22137   
MedgenGFPT1
Genetic Testing Registry GFPT1
NextProtQ06210 [Medical]
TSGene2673
GENETestsGFPT1
Huge Navigator GFPT1 [HugePedia]
snp3D : Map Gene to Disease2673
BioCentury BCIQGFPT1
ClinGenGFPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2673
Chemical/Pharm GKB GenePA28651
Clinical trialGFPT1
Miscellaneous
canSAR (ICR)GFPT1 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGFPT1
EVEXGFPT1
GoPubMedGFPT1
iHOPGFPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:06:00 CET 2017

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