|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for KHK |
 Gene summary |
| Basic gene Info. | Gene symbol | KHK |
| Gene name | ketohexokinase (fructokinase) | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2p23.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000221.2, NM_006488.2, | |
| Description | hepatic fructokinaseketohexokinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 614058 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138030 | ||
| HPRD : 11774 | ||
| Vega : OTTHUMG00000097077 | ||
| Protein | UniProt: P50053 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KHK | |
| BioGPS: 3795 | ||
| Pathway | NCI Pathway Interaction Database: KHK | |
| KEGG: KHK | ||
| REACTOME: KHK | ||
| Pathway Commons: KHK | ||
| Context | iHOP: KHK | |
| ligand binding site mutation search in PubMed: KHK | ||
| UCL Cancer Institute: KHK | ||
| 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 | GO:0046835 | carbohydrate phosphorylation | 22371574 |
| Top |
| Ligand binding site mutations for KHK |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A230 | A232S | HNSC | 1 | G40 | Q38R | KIRC | 1 | A230 | A232S | LUSC | 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. |
| Top |
| Protein structure related information for KHK |
| 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 |
 |
| 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 | A230 | A232S | -1.2237501 | G40 | Q38R | -0.93223242 |
| (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 KHK from PDB |
| Top |
| Differential gene expression and gene-gene network for KHK |
| 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) |
| Top |
| Top |
| Phenotype information for KHK |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268160 | Fructosuria | 3 | Biomarker, GeneticVariation |
| umls:C1416630 | FRUCTOSURIA, ESSENTIAL | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for KHK |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of KHK go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | TR3 | N-[3-(METHYLSULFANYL)-1-PHENYL-1H-INDAZOL-6-YL]PIPERIDINE-4-CARBOXAMIDE | 3nc9 | A | A230 | XNB | N~8~-(CYCLOPROPYLMETHYL)-N~4~-[2-(METHYLSULFANYL)PHENYL]-2-(PIPERAZIN-1-YL)PYRIMIDO[5,4-D]PYRIMIDINE-4,8-DIAMINE | 3q92 | A | A230 | XNN | N~8~-(CYCLOPROPYLMETHYL)-2-(2,6-DIAZASPIRO[3.3]HEPT-2-YL)-N~4~-[2-(METHYLSULFANYL)PHENYL]PYRIMIDO[5,4-D]PYRIMIDINE-4,8-DIAMINE | 3qai | A | A230 | FRU | FRUCTOSE | 2hw1 | A | G40 | FRU | FRUCTOSE | 3nbv | A | G40 |
| Top |
| Conservation information for LBS of KHK |
| Multiple alignments for P50053 in multiple species |
| LBS | AA sequence | # species | Species | A224 | AVLVCAWAEEG | 1 | Homo sapiens | A224 | ATLVCAWAEEG | 1 | Mus musculus | A224 | ATLICAWAEEG | 1 | Rattus norvegicus | A226 | LVCAWAEEGAD | 2 | Homo sapiens, Mus musculus | A226 | LICAWAEEGAD | 1 | Rattus norvegicus | A230 | WAEEGADALGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A244 | LLHSDAFPPPR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A256 | VDTLGAGDTFN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A285 | FGCQVAGKKCG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C282 | ALRFGCQVAGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C289 | VAGKKCGLQGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D15 | GLVVLDIINVV | 2 | Mus musculus, Rattus norvegicus | D15 | GLVVLDVISLV | 1 | Homo sapiens | D258 | TLGAGDTFNAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E227 | VCAWAEEGADA | 2 | Homo sapiens, Mus musculus | E227 | ICAWAEEGADA | 1 | Rattus norvegicus | F245 | LHSDAFPPPRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F260 | GAGDTFNASVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G229 | AWAEEGADALG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G255 | VVDTLGAGDTF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G257 | DTLGAGDTFNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G286 | GCQVAGKKCGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G40 | QRWQRGGNASN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G41 | RWQRGGNASNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K193 | VVFVSKDVAKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L112 | SRTIILYDTNL | 2 | Mus musculus, Rattus norvegicus | L112 | NRTIVLHDTSL | 1 | Homo sapiens | L254 | RVVDTLGAGDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N107 | NNSNGSRTIIL | 2 | Mus musculus, Rattus norvegicus | N107 | NNSNGNRTIVL | 1 | Homo sapiens | N42 | WQRGGNASNSC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N45 | GGNASNSCTVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P246 | HSDAFPPPRVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P247 | SDAFPPPRVVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R108 | NSNGSRTIILY | 2 | Mus musculus, Rattus norvegicus | R108 | NSNGNRTIVLH | 1 | Homo sapiens | T253 | PRVVDTLGAGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V13 | CVGLVVLDIIN | 2 | Mus musculus, Rattus norvegicus | V13 | CVGLVVLDVIS | 1 | Homo sapiens | V250 | FPPPRVVDTLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |