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 enable glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Acts upstream of or within several processes, including melanocyte differentiation; neuromuscular junction development; and skeletal system development. Is expressed in notochord and polster. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 12 and obesity. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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