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mutLBSgeneDB |
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| Gene summary for GFPT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GFPT1 |
| Gene name | glutamine--fructose-6-phosphate transaminase 1 | |
| Synonyms | CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG | |
| Cytomap | UCSC genome browser: 2p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001244710.1, NM_002056.3, | |
| Description | D-fructose-6-phosphate amidotransferase 1glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1glutamine:fructose-6-phosphate amidotransferase 1hexosephosphate aminotransferas | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 138292 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198380 | ||
| HPRD : 00702 | ||
| Vega : OTTHUMG00000152666 | ||
| Protein | UniProt: Q06210 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GFPT1 | |
| BioGPS: 2673 | ||
| Pathway | NCI Pathway Interaction Database: GFPT1 | |
| KEGG: GFPT1 | ||
| REACTOME: GFPT1 | ||
| Pathway Commons: GFPT1 | ||
| Context | iHOP: GFPT1 | |
| ligand binding site mutation search in PubMed: GFPT1 | ||
| UCL Cancer Institute: GFPT1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for GFPT1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S395 | S395R | LUAD | 1 | K694 | K694T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for GFPT1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | K694 | K694T | -1.3268804 | S395 | S395R | -0.21679219 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for GFPT1 from PDB |
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| Differential gene expression and gene-gene network for GFPT1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GFPT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 2 | Biomarker, GeneticVariation |
| umls:C3552335 | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GFPT1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GFPT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | F6R | FRUCTOSE -6-PHOSPHATE | 2v4m | A | S395 | F6R | FRUCTOSE -6-PHOSPHATE | 2v4m | B | S395 | F6R | FRUCTOSE -6-PHOSPHATE | 2v4m | C | S395 | F6R | FRUCTOSE -6-PHOSPHATE | 2v4m | D | S395 |
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| Conservation information for LBS of GFPT1 |
| Multiple alignments for Q06210 in multiple species |
| LBS | AA sequence | # species | Species | A491 | PEIGVASTKAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A693 | FPRNLAKSVTV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C392 | LILIACGTSYH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E579 | ALKIKEITYMH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G393 | ILIACGTSYHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K576 | LEGALKIKEIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K694 | PRNLAKSVTVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q440 | CFFISQSGETA | 2 | Mus musculus, Rattus norvegicus | Q440 | CFFLSQSGETA | 1 | Homo sapiens | S395 | IACGTSYHAGV | 2 | Homo sapiens, Mus musculus | S395 | IACGTSYHAGM | 1 | Rattus norvegicus | S439 | VCFFISQSGET | 2 | Mus musculus, Rattus norvegicus | S439 | VCFFLSQSGET | 1 | Homo sapiens | S441 | FFISQSGETAD | 2 | Mus musculus, Rattus norvegicus | S441 | FFLSQSGETAD | 1 | Homo sapiens | S492 | EIGVASTKAYT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T394 | LIACGTSYHAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T444 | SQSGETADTLM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V490 | GPEIGVASTKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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