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

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

Homo sapiens

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

Gene ID: 2673 | Gene type: protein coding

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

GFPT1 Protein Structure

GATase_2

GATase_2: Glutamine amidotransferases class-II (2 - 63)

GATase_2

GATase_2: Glutamine amidotransferases class-II (82 - 214)

SIS

SIS: SIS domain (381 - 509)

SIS

SIS: SIS domain (552 - 681)

  • 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%

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

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