GFPT1 - glutamine--fructose-6-phosphate transaminase 1 Gene

Also Known as GFA; GFAT; GFPT; MSLG; CMS12; GFAT1; CMSTA1; GFAT 1; GFAT1m; GFPT1L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2673

About GFPT1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,319,780-69,387,227 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in thyroid (RPKM 39.4), colon (RPKM 28.0) and 25 other tissues.

Summary

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]

GFPT1 Products (2)

mRNA	Protein	Name
NM_001244710.2	NP_001231639.1	glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 1
NM_002056.4	NP_002047.2	glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IDA IDA: Inferred from direct assay	35229715	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in UDP-N-acetylglucosamine biosynthetic process	IDA IDA: Inferred from direct assay	35229715	GOA
involved in UDP-N-acetylglucosamine biosynthetic process	IMP IMP: Inferred from mutant phenotype	26887390	GOA
involved in fructose 6-phosphate metabolic process	IDA IDA: Inferred from direct assay	35229715	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GFPT1 Protein Structure

GATase_2

SIS

0
200
400
600
699 a.a.

Protein Preferred Names	Protein Names
glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	D-fructose-6-phosphate amidotransferase 1

Recombinant GFPT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76359	GFPT1 Protein, Human	Q06210-1/AAA58502.1 (Q332-E699)	≥ 95%, as determined by reducing SDS-PAGE.

GFPT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83167	GFPT1 Antibody (YA2912)	WB, IHC-P, IP	Human
HY-P83167A	GFPT1 Antibody (YA2912)(PBS only)	WB, IHC-P, IP	Human
HY-P84494	GFPT1 Antibody (YA4191)	WB, ICC/IF, FC, ELISA	Human, Rat, Monkey
HY-P84494A	GFPT1 Antibody (YA4191)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Rat, Monkey

Related Diseases

Diseases	Alias
Myasthenic Syndrome, Congenital, 12	Congenital Myasthenic Syndrome 12 CMS12 Myasthenic Syndrome, Congenital, With Tubular Aggregates 1 Cmsta1 Myasthenia, Congenital, 12, With Tubular Aggregates Congenital Myasthenia 12 With Tubular Aggregates Limb-Girdle Myasthenia With Tubular Aggregates Myasthenia, Congenital, With Tubular Aggregates 1 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Congenital Myasthenic Syndromes With Glycosylation Defect
Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
Hereditary Spastic Paraplegia 72	Autosomal Spastic Paraplegia Type 72 Spg72 Spastic Paraplegia 72, Autosomal Recessive
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Diabetes Mellitus	Diabetes
Myasthenic Syndrome, Congenital, 21, Presynaptic	Congenital Myasthenic Syndrome 21 CMS21 Congenital Myasthenic Syndrome 21, Presynaptic
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05384	GFPT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19005	Gfpt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25494	Gfpt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GFPT1	VGNC	VGNC:29330
Macaca mulatta	GFPT1	VGNC	VGNC:72915
Canis familiaris	GFPT1	VGNC	VGNC:41187
Felis catus	GFPT1	VGNC	VGNC:62527
Rattus norvegicus	GFPT1	RGD	RGD:1549703
Mus musculus	GFPT1	MGD	MGI:95698
Others	GFPT1	NCBI