Gene
gfpt1
- ID
- ZDB-GENE-070423-1
- Name
- glutamine--fructose-6-phosphate transaminase 1
- Symbol
- gfpt1 Nomenclature History
- Previous Names
- 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
-
- 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 Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| j23e1 | Allele with one point mutation | Exon 3 | Premature Stop | ENU | |
| sa21389 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34504 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| z110 | Allele with one point mutation | Exon 11 | Missense | ENU |
1 - 4 of 4
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 12 | Alliance | Myasthenia, congenital, 12, with tubular aggregates | 610542 |
1 - 1 of 1
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 |
1 - 5 of 8 Show all
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 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | ZFOS-1058E7 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194557 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:194569 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001034981 (1) | 2079 nt | ||
| Genomic | GenBank:CU929036 (2) | 35076 nt | ||
| Polypeptide | UniProtKB:Q3S344 (1) | 682 aa |
| Species | Symbol | Chromosome | Accession # | Evidence |
|---|---|---|---|---|
| Human | GFPT1 | 2 | Amino acid sequence comparison (1) |
- Zhang, Y., Wang, Y., Yao, X., Wang, C., Chen, F., Liu, D., Shao, M., Xu, Z. (2020) Rbm24a Is Necessary for Hair Cell Development Through Regulating mRNA Stability in Zebrafish. Frontiers in cell and developmental biology. 8:604026
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- DeRossi, C., Shtraizent, N., Nayar, S., Sachidanandam, R., Katz, L.S., Prince, A., Koh, A.P., Vincek, A., Hadas, Y., Hoshida, Y., Scott, D.K., Eliyahu, E., Freeze, H.H., Sadler, K.C., Chu, J. (2017) MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect. eLIFE. 6
- Hugo, S.E., Schlegel, A. (2017) A genetic screen for zebrafish mutants with hepatic steatosis identifies a locus required for larval growth. Journal of anatomy. 230(3):407-413
- Hugo, S.E., Schlegel, A. (2017) A genetic model to study increased hexosamine biosynthetic flux. Endocrinology. 158(8):2420-2426
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Senderek, J., Müller, J.S., Dusl, M., Strom, T.M., Guergueltcheva, V., Diepolder, I., Laval, S.H., Maxwell, S., Cossins, J., Krause, S., Muelas, N., Vilchez, J.J., Colomer, J., Mallebrera, C.J., Nascimento, A., Nafissi, S., Kariminejad, A., Nilipour, Y., Bozorgmehr, B., Najmabadi, H., Rodolico, C., Sieb, J.P., Steinlein, O.K., Schlotter, B., Schoser, B., Kirschner, J., Herrmann, R., Voit, T., Oldfors, A., Lindbergh, C., Urtizberea, A., von der Hagen, M., Hübner, A., Palace, J., Bushby, K., Straub, V., Beeson, D., Abicht, A., and Lochmüller, H. (2011) Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. American journal of human genetics. 88(2):162-172
- Wood, A.J., Müller, J.S., Jepson, C.D., Laval, S.H., Lochmüller, H., Bushby, K., Barresi, R., and Straub, V. (2011) Abnormal Vascular Development in Zebrafish Models for Fukutin and FKRP Deficiency. Human molecular genetics. 20(24):4879-90
- Hultman, K.A., and Johnson, S.L. (2010) Differential contribution of direct-developing and stem cell-derived melanocytes to the zebrafish larval pigment pattern. Developmental Biology. 337(2):425-431
- Yang, C.T., Hindes, A.E., Hultman, K.A., and Johnson, S.L. (2007) Mutations in gfpt1 and skiv2l2 Cause Distinct Stage-Specific Defects in Larval Melanocyte Regeneration in Zebrafish. PLoS Genetics. 3(6):e88
1 - 10 of 11
Show