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This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008] See more...
Aliases for GFPT1 Gene
Aliases for GFPT1 Gene
- Glutamine--Fructose-6-Phosphate Transaminase 1 2 3 5
- Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 1 3 4
- Glutamine:Fructose-6-Phosphate Amidotransferase 1 3 4
- D-Fructose-6-Phosphate Amidotransferase 1 3 4
- Hexosephosphate Aminotransferase 1 3 4
- EC 2.6.1.16 4 54
- GFAT 1 3 4
- GFAT1 3 4
- GFPT 3 4
External Ids for GFPT1 Gene
- HGNC: 4241
- Entrez Gene: 2673
- Ensembl: ENSG00000198380
- OMIM: 138292
- UniProtKB: Q06210
Previous HGNC Symbols for GFPT1 Gene
- GFPT
Previous GeneCards Identifiers for GFPT1 Gene
- GC02P069621
- GC02P069787
- GC02M069510
- GC02M069526
- GC02M069464
- GC02M069546
Summaries for GFPT1 Gene
-
This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
GeneCards Summary for GFPT1 Gene
GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1) is a Protein Coding gene. Diseases associated with GFPT1 include Myasthenic Syndrome, Congenital, 12 and Congenital Myasthenic Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glutamine-fructose-6-phosphate transaminase (isomerizing) activity. An important paralog of this gene is GFPT2.
UniProtKB/Swiss-Prot Summary for GFPT1 Gene
-
Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
Additional gene information for GFPT1 Gene
- Monarch Initiative
- Search for GFPT1 at DataMed
- Search for GFPT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFPT1 Gene
Genomics for GFPT1 Gene
GeneHancer (GH) Regulatory Elements for GFPT1 Gene
Promoters and enhancers for GFPT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GFPT1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GFPT1 gene promoter:
-
- AhR
- Arnt
- Egr-2
- Egr-4
- PPAR-alpha
- SREBP-1a
- SREBP-1b
- SREBP-1c
- SRF (504 AA)
- YY1
Genomic Locations for GFPT1 Gene
Genomic Locations for GFPT1 Gene
- chr2:69,319,769-69,387,254
- (GRCh38/hg38)
- Size:
- 67,486 bases
- Orientation:
- Minus strand
- chr2:69,546,905-69,614,382
- (GRCh37/hg19)
- Size:
- 67,478 bases
- Orientation:
- Minus strand
Genomic View for GFPT1 Gene
Genes around GFPT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p13.3 by HGNC
- 2p13.3 by Entrez Gene
- 2p13.3 by Ensembl
GFPT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GFPT1 Gene
Proteins for GFPT1 Gene
-
Protein details for GFPT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q06210-GFPT1_HUMAN
- Recommended name:
- Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
- Protein Accession:
- Q06210
- Q53QE6
- Q9BXF8
Protein attributes for GFPT1 Gene
- Size:
- 699 amino acids
- Molecular mass:
- 78806 Da
- Quaternary structure:
-
- Homotetramer (Probable), may also exist as homodimers.
Protein Expression for GFPT1 Gene
Selected DME Specific Peptides for GFPT1 Gene
- Q06210:
-
- AGPEIGVA
- FESETDTETIAKL
- TRRGSPLLIGVRS
- KEIFEQP
- IEHTNRV
- RGYDSAG
- FASDASA
- AKCQNALQQV
- HTRWATHG
- LSVIPLQ
- GELKHGPLAL
- QSGETAD
- EGALKIKE
- TLVERVIQQLEGAFALVFKS
- EYRGYDS
- EIGVASTK
- VNSHPQRSDK
- VIHNGIITNYKDL
- QTLQMELQQIMKGNFS
- GKVKALDE
- GTSYHAG
- CGVHINAGPEI
- GRGYHYAT
Post-translational modifications for GFPT1 Gene
Other Protein References for GFPT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ GFPT1 Antibody
- Creative Diagnostics Anti-GFPT1 (aa 525-681) polyclonal antibody and Anti-GFPT1 (N-terminal) polyclonal antibody
-
Creative Biolabs
- Rabbit Anti-GFPT1 Recombinant Antibody (CBLG1-1040)
- Rabbit Anti-GFPT1 Recombinant Antibody (11C1035D12F4)
- Mouse Anti-GFPT1 (AA 536-681) Recombinant Antibody (CBFYH-2971)
- Hi-Affi™ Recombinant Rabbit Anti-GFPT1 Monoclonal Antibody (DS1429AB)
- Mouse Anti-GFPT1 Recombinant Antibody (1F1B9)
- Mouse Anti-GFPT1 Recombinant Antibody (1F1A4)
- Rabbit Anti-GFPT1 Recombinant Antibody (D12F4)
- Rabbit Anti-GFPT1 Recombinant Antibody (CBLG1-1041)
- Novus Biologicals Antibodies for GFPT1
- Invitrogen Antibodies for GFPT1 (AFLGC-GFPT1)
- antibodies-online: Show 23 available GFPT1 Antibodies ranked by validation data
- Compare Top GFPT1 Antibodies
-
Recommended
- 12 IF (p) Antibodies (anti-mouse)
- 12 WB Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 33 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GFPT1
- Sino Biological Antibodies for GFPT1
Protein Products
- Creative Biomart Recombinant Human GFPT1 and Recombinant Human GFPT1, None tagged
-
OriGene Purified Proteins for GFPT1
- Search Origene for MassSpec and Protein Over-expression Lysates for GFPT1
- Origene Custom Protein Services for GFPT1
- Sino Biological Recombinant Proteins for GFPT1
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for GFPT1
Assay Products
- Aviva Systems Biology GFPT1 ELISA Kit (Human) (OKEH02952)
- antibodies-online: Show 6 available GFPT1 Elisa Kits ranked by validation data
- Compare Top GFPT1 Elisa Kits
-
Quality Products:
Domains & Families for GFPT1 Gene
Gene Families for GFPT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for GFPT1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GFPT1 Gene
- GenScript: Design optimal peptide antigens:
-
- Hexosephosphate aminotransferase 1 (GFPT1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GFPT1 Gene
Function for GFPT1 Gene
Molecular function for GFPT1 Gene
- UniProtKB/Swiss-Prot Function:
- Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=D-fructose 6-phosphate + L-glutamine = D-glucosamine 6-phosphate + L-glutamate; Xref=Rhea:RHEA:13237, ChEBI:CHEBI:29985, ChEBI:CHEBI:58359, ChEBI:CHEBI:58725, ChEBI:CHEBI:61527; EC=2.6.1.16; Evidence=. ;.
- GENATLAS Biochemistry:
- glutamine
Enzyme Numbers (IUBMB) for GFPT1 Gene
Phenotypes From GWAS Catalog for GFPT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004360 | glutamine-fructose-6-phosphate transaminase (isomerizing) activity | IBA | 21873635 |
| GO:0008483 | transaminase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0097367 | carbohydrate derivative binding | IEA | -- |
Phenotypes for GFPT1 Gene
- MGI mutant phenotypes for GFPT1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GFPT1:
Animal Models for GFPT1 Gene
- MGI Knock Outs for GFPT1:
-
- Gfpt1 Gfpt1<tm1b(EUCOMM)Wtsi>
Animal Model Products
-
Taconic Biosciences Mouse Models for GFPT1
CRISPR Products
-
OriGene CRISPR knockouts for GFPT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GFPT1
- genomics-online: gRNA clones - Search results for available GFPT1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for GFPT1 - Select products 50% OFF >
- * GFPT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GFPT1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for GFPT1
miRNA for GFPT1 Gene
- miRTarBase miRNAs that target GFPT1
-
- hsa-mir-16-5p (MIRT001464)
- hsa-mir-590-3p (MIRT016186)
- hsa-mir-335-5p (MIRT017993)
- hsa-mir-34a-5p (MIRT025445)
- hsa-mir-302c-5p (MIRT089320)
- hsa-mir-888-3p (MIRT120065)
- hsa-mir-4768-5p (MIRT207103)
- hsa-mir-6833-3p (MIRT207108)
- hsa-mir-1180-5p (MIRT389316)
- hsa-mir-7114-3p (MIRT389317)
- hsa-mir-485-5p (MIRT440576)
- hsa-mir-3529-3p (MIRT540299)
- hsa-mir-3065-5p (MIRT540300)
- hsa-mir-4420 (MIRT540301)
- hsa-mir-181b-3p (MIRT540302)
- hsa-mir-181b-2-3p (MIRT540303)
- hsa-mir-302d-5p (MIRT540304)
- hsa-mir-2277-3p (MIRT540305)
- hsa-mir-302b-5p (MIRT540306)
- hsa-mir-4526 (MIRT540307)
- hsa-mir-3660 (MIRT540308)
- hsa-mir-383-3p (MIRT540309)
- hsa-mir-1304-3p (MIRT540310)
- hsa-mir-3680-5p (MIRT540311)
- hsa-mir-34b-3p (MIRT540312)
- hsa-mir-2113 (MIRT548086)
- hsa-mir-4477b (MIRT548087)
- hsa-mir-218-5p (MIRT548088)
- hsa-mir-3912-5p (MIRT548089)
- hsa-mir-6864-3p (MIRT548090)
- hsa-mir-3672 (MIRT548091)
- hsa-mir-4452 (MIRT548092)
- hsa-mir-183-3p (MIRT548093)
- hsa-mir-769-5p (MIRT548094)
- hsa-mir-4786-5p (MIRT548095)
- hsa-mir-4461 (MIRT548096)
- hsa-mir-3163 (MIRT548097)
- hsa-mir-646 (MIRT548098)
- hsa-mir-541-5p (MIRT548099)
- hsa-mir-561-3p (MIRT548100)
- hsa-mir-548at-5p (MIRT548101)
- hsa-mir-4282 (MIRT548102)
- hsa-mir-330-3p (MIRT548103)
- hsa-mir-19b-3p (MIRT548104)
- hsa-mir-19a-3p (MIRT548105)
- hsa-mir-4644 (MIRT570673)
- hsa-mir-4306 (MIRT570674)
- hsa-mir-185-5p (MIRT570675)
- hsa-mir-4463 (MIRT570676)
- hsa-mir-7161-5p (MIRT570677)
- hsa-mir-548u (MIRT570678)
- hsa-mir-6873-3p (MIRT657879)
- hsa-mir-1229-3p (MIRT657880)
- hsa-mir-452-3p (MIRT657881)
- hsa-mir-6862-3p (MIRT657882)
- hsa-mir-6784-3p (MIRT657883)
- hsa-mir-6511b-3p (MIRT657884)
- hsa-mir-6511a-3p (MIRT657885)
- hsa-mir-1281 (MIRT657886)
- hsa-mir-3620-3p (MIRT657887)
- hsa-mir-6865-3p (MIRT657888)
- hsa-mir-141-5p (MIRT657889)
- hsa-mir-4762-3p (MIRT703306)
- hsa-mir-4303 (MIRT703307)
- hsa-mir-5689 (MIRT703308)
- hsa-mir-27b-5p (MIRT703309)
- hsa-mir-6751-3p (MIRT703310)
- hsa-mir-1199-5p (MIRT703311)
- hsa-mir-5586-3p (MIRT703312)
- hsa-mir-6782-3p (MIRT703313)
- hsa-mir-140-3p (MIRT703314)
- hsa-mir-122-5p (MIRT783149)
- hsa-mir-129-5p (MIRT783496)
- hsa-mir-3135b (MIRT784613)
- hsa-mir-3194-3p (MIRT784787)
- hsa-mir-3652 (MIRT785007)
- hsa-mir-4280 (MIRT785574)
- hsa-mir-431-5p (MIRT785726)
- hsa-mir-4430 (MIRT785835)
- hsa-mir-4755-3p (MIRT786621)
- hsa-mir-5007-5p (MIRT786948)
- hsa-mir-504-3p (MIRT787015)
- hsa-mir-5691 (MIRT787759)
- hsa-mir-6805-3p (MIRT788838)
- hsa-mir-8055 (MIRT789677)
- hsa-mir-924 (MIRT789938)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for GFPT1
- Browse OriGene Inhibitory RNA Products For GFPT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT1
- genomics-online: shRNA clones - Search results for available GFPT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GFPT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GFPT1
- genomics-online: cdna clones - Search results for available GFPT1 gene related products
- orf clones - Search results for available GFPT1 gene related products
- Applied Biological Materials (abm): Clones for GFPT1 - Select products 50% OFF >
- * GFPT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GFPT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for GFPT1
No data available for Transcription Factor Targets and HOMER Transcription for GFPT1 Gene
Localization for GFPT1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| cytoskeleton | 2 |
| nucleus | 2 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| mitochondrion | 0 |
- Nucleoli (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 20458337 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GFPT1 Gene
Pathways & Interactions for GFPT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amino sugar and nucleotide sugar metabolism | ||
| 2 | Unfolded Protein Response (UPR) | ||
| 3 | Synthesis of substrates in N-glycan biosythesis | ||
| 4 | Metabolism of proteins | ||
| 5 | Glucose / Energy Metabolism | ||
Pathways by source for GFPT1 Gene
2 BioSystems pathways for GFPT1 Gene
4 KEGG pathways for GFPT1 Gene
1 Cell Signaling Technology pathway for GFPT1 Gene
UniProtKB/Swiss-Prot Q06210-GFPT1_HUMAN
- Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.
Interacting Proteins for GFPT1 Gene
GPS-Prot Interaction Network for GFPT1
SIGNOR curated interactions for GFPT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006002 | fructose 6-phosphate metabolic process | TAS,IBA | 21873635 |
| GO:0006047 | UDP-N-acetylglucosamine metabolic process | IBA | 21873635 |
| GO:0006048 | UDP-N-acetylglucosamine biosynthetic process | TAS | -- |
| GO:0006112 | energy reserve metabolic process | TAS | 1460020 |
| GO:0006487 | protein N-linked glycosylation | IBA | 21873635 |
Drugs & Compounds for GFPT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 70 | ||
| Glutamic acid | Approved | Nutra | Full agonist, Agonist | 281 | ||
| L-Glutamine | Approved, Investigational | Nutra | Full agonist, Agonist | 0 | ||
| glucosamine 6-phosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fructose 6-phosphate |
|
643-13-0 |
|
Drug Products
- Creative Biomart Recombinant Human GFPT1 and Recombinant Human GFPT1, None tagged
Transcripts for GFPT1 Gene
mRNA/cDNA for GFPT1 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (332) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361060 8632 bps (ENST00000361060.5)
- ENST00000493759 524 bps (ENST00000493759.2)
- ENST00000494201 625 bps (ENST00000494201.1)
- ENST00000357308 8703 bps (ENST00000357308.8)
CRISPR Products
-
OriGene CRISPR knockouts for GFPT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GFPT1
- genomics-online: gRNA clones - Search results for available GFPT1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for GFPT1 - Select products 50% OFF >
- * GFPT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GFPT1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for GFPT1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for GFPT1
- Browse OriGene Inhibitory RNA Products For GFPT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT1
- genomics-online: shRNA clones - Search results for available GFPT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GFPT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GFPT1
- genomics-online: cdna clones - Search results for available GFPT1 gene related products
- orf clones - Search results for available GFPT1 gene related products
- Applied Biological Materials (abm): Clones for GFPT1 - Select products 50% OFF >
- * GFPT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GFPT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for GFPT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
-
Colon (Gastrointestinal Tract)
This gene is overexpressed in Salivary gland (9.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GFPT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of GFPT1 Gene:
GFPT1SOURCE GeneReport for Unigene cluster for GFPT1 Gene:
Hs.580300mRNA Expression by UniProt/SwissProt for GFPT1 Gene:
Q06210-GFPT1_HUMAN
Tissue specificity:
Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle.
Evidence on tissue expression from TISSUES for GFPT1 Gene
- Liver(4.6)
- Nervous system(3.9)
- Intestine(3.7)
- Blood(2.9)
- Muscle(2.8)
- Heart(2.7)
- Gall bladder(2.6)
- Stomach(2.6)
- Kidney(2.5)
- Pancreas(2.5)
- Lung(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GFPT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- head
- neck
Thorax:
- lung
- rib
- rib cage
Abdomen:
- kidney
Pelvis:
- pelvis
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for GFPT1
-
OriGene qPCR primer pairs and template standards for GFPT1
- genomics-online: primer clones - Search results for available GFPT1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for GFPT1 Gene
Orthologs for GFPT1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GFPT1 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GFPT1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GFPT1 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GFPT1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GFPT1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gfpt1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gfpt1 32 |
|
||
| chicken (Gallus gallus) |
Aves | GFPT1 33 32 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gfpt1 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | gfpt1-prov 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CU929036.1 33 |
|
OneToMany | |
| gfpt1 33 32 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Gfat2 33 34 |
|
ManyToMany | |
| Gfat1 33 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | F22B3.4 33 34 |
|
ManyToMany | |
| F07A11.2 33 |
|
ManyToMany | |||
| F07A11.2b 34 |
|
|
|||
| F07A11.2a 34 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GFA1 33 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os.18609 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
| Cin.2377 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2377 32 |
|
- Species where no ortholog for GFPT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for GFPT1 Gene
- ENSEMBL:
- Gene Tree for GFPT1 (if available)
- TreeFam:
- Gene Tree for GFPT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GFPT1: view image
Paralogs for GFPT1 Gene
Variants for GFPT1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1011196447 | pathogenic, Congenital myasthenic syndrome 12 | 69,354,314(-) | T/C | intron_variant, splice_acceptor_variant | |
| rs10185336 | benign, Congenital Myasthenic Syndrome, Recessive | 69,323,520(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs10198150 | benign, Congenital Myasthenic Syndrome, Recessive | 69,323,879(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs10198171 | benign, Congenital Myasthenic Syndrome, Recessive | 69,323,920(-) | T/A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1024585946 | Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542] | 69,329,693(-) | G/A | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2720174 | CNV | deletion | 23290073 |
| esv33940 | CNV | loss | 17666407 |
| esv3591182 | CNV | loss | 21293372 |
| nsv1116383 | CNV | deletion | 24896259 |
| nsv834252 | CNV | loss | 17160897 |
| nsv979015 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.91;
18.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GFPT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFPT1 Gene
Disorders for GFPT1 Gene
(9) MalaCards diseases for GFPT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myasthenic syndrome, congenital, 12 |
|
|
| congenital myasthenic syndrome |
|
|
| congenital myasthenic syndromes with glycosylation defect |
|
|
| myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
|
|
| heart sarcoma |
|
|
Search GFPT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GFPT1_HUMAN- Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. {ECO:0000269 PubMed:21310273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GFPT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GFPT1 Gene
Publications for GFPT1 Gene
- Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase. (PMID: 1460020) McKnight GL … O'Hara PJ (The Journal of biological chemistry 1992) 2 3 4 23 56
- Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes. (PMID: 19059404) Nakaishi Y … Komatsu M (FEBS letters 2009) 3 4 23 56
- Effect of +36T>C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations. (PMID: 17024311) Kunika K … Itakura M (Journal of human genetics 2006) 3 23 43 56
- The -913 G/A glutamine:fructose-6-phosphate aminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects. (PMID: 15613432) Weigert C … Schleicher ED (The Journal of clinical endocrinology and metabolism 2005) 3 23 43 56
- Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy. (PMID: 14988277) Ng DP … Krolewski AS (Diabetes 2004) 3 23 43 56
ExternalLinks
Products for GFPT1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
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- Search Origene for MassSpec and Protein Over-expression Lysates for GFPT1
- Origene Custom Protein Services for GFPT1
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- Sino Biological Human cDNA Clone for GFPT1
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- Novus Biologicals proteins and lysates for GFPT1
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- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- Invitrogen Antibodies for GFPT1 (AFLGC-GFPT1)
- antibodies-online: Show 23 available GFPT1 Antibodies ranked by validation data
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- 12 IF (p) Antibodies (anti-mouse)
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- 2 IHC Antibodies (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 33 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 2 RIA Antibodies (anti-human)
- 1 FACS Antibody (anti-human)
- antibodies-online: Show 6 available GFPT1 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 10 available GFPT1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for GFPT1
- Search Santa Cruz Biotechnology (SCBT) for GFPT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GFPT1
- Horizon Cell Lines for GFPT1
- genomics-online: cdna clones - Search results for available GFPT1 gene related products
- orf clones - Search results for available GFPT1 gene related products
- genomics-online: gRNA clones - Search results for available GFPT1 gene related products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GFPT1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT1
Sources for GFPT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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- (66) OCA
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- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
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