Gene

gfpt1

ID
ZDB-GENE-070423-1
Name
glutamine--fructose-6-phosphate transaminase 1
Symbol
gfpt1 Nomenclature History
Previous Names
  • eartha (1)
  • harvest moon (1)
  • hmn (1)
  • unm_z110
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Involved in several processes, including melanocyte differentiation; skeletal muscle tissue development; and skeletal system development. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 12 and obesity. Is expressed in notochord and polster. Orthologous to human GFPT1 (glutamine--fructose-6-phosphate transaminase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gfpt1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 12 Alliance Myasthenia, congenital, 12, with tubular aggregates 610542
Associated With gfpt1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001347 SIS domain
Domain IPR017932 Glutamine amidotransferase type 2 domain
Domain IPR035466 GlmS/AgaS, SIS domain 1
Domain IPR035490 GlmS/FrlB, SIS domain 2
Domain IPR047084 Glucosamine-fructose-6-phosphate aminotransferase, isomerising, N-terminal domain
Family IPR005855 Glucosamine-fructose-6-phosphate aminotransferase, isomerising
Homologous_superfamily IPR029055 Nucleophile aminohydrolases, N-terminal
Homologous_superfamily IPR046348 SIS domain superfamily
Domain Details Per Protein
Protein Length GlmS/AgaS, SIS domain 1 GlmS/FrlB, SIS domain 2 Glucosamine-fructose-6-phosphate aminotransferase, isomerising Glucosamine-fructose-6-phosphate aminotransferase, isomerising, N-terminal domain Glutamine amidotransferase type 2 domain Nucleophile aminohydrolases, N-terminal SIS domain SIS domain superfamily
UniProtKB:Q3S344 682
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations