mutLBSgeneDB |
Gene summary for HK3 |
Gene summary |
Basic gene Info. | Gene symbol | HK3 |
Gene name | hexokinase 3 (white cell) | |
Synonyms | HKIII|HXK3 | |
Cytomap | UCSC genome browser: 5q35.2 | |
Type of gene | protein-coding | |
RefGenes | NM_002115.2, | |
Description | ATP:D-hexose 6-phosphotransferaseHK IIIhexokinase type IIIhexokinase-3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 142570 | |
HGNC : HGNC | ||
Ensembl : ENSG00000160883 | ||
HPRD : 00806 | ||
Vega : OTTHUMG00000130855 | ||
Protein | UniProt: P52790 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HK3 | |
BioGPS: 3101 | ||
Pathway | NCI Pathway Interaction Database: HK3 | |
KEGG: HK3 | ||
REACTOME: HK3 | ||
Pathway Commons: HK3 | ||
Context | iHOP: HK3 | |
ligand binding site mutation search in PubMed: HK3 | ||
UCL Cancer Institute: HK3 | ||
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 | 8717435 |
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Ligand binding site mutations for HK3 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | E714 | M713T | COAD | 1 | E714 | G716D | HNSC | 1 | D867 | D867Y | LUAD | 1 | D222 | D222N | OV | 1 | G545 | G544V | SKCM | 1 | N248 | A249T | UCEC | 1 | T546 | T546M | UCEC | 1 | E748 | F747L | 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 HK3 |
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 | D867 | D867Y | 0.27491011 | E714 | M713T | -0.96302942 | D222 | D222N | -0.64789873 | G545 | G544V | -0.61119811 | T546 | T546M | -0.56357721 | E714 | G716D | -0.4344935 | N248 | A249T | -0.35566583 | E748 | F747L | -0.11607573 |
(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 HK3 from PDB |
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Differential gene expression and gene-gene network for HK3 |
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 HK3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0023895 | Liver Diseases | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HK3 |
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. |
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 HK3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLC | ALPHA-D-GLUCOSE | 3hm8 | A | E714 E748 | GLC | ALPHA-D-GLUCOSE | 3hm8 | B | E714 E748 | GLC | ALPHA-D-GLUCOSE | 3hm8 | C | E714 E748 | GLC | ALPHA-D-GLUCOSE | 3hm8 | D | E714 E748 | BG6 | BETA-D-GLUCOSE 6-PHOSPHATE | 3hm8 | A | G545 T546 D867 | BG6 | BETA-D-GLUCOSE 6-PHOSPHATE | 3hm8 | B | G545 T546 D867 | BG6 | BETA-D-GLUCOSE 6-PHOSPHATE | 3hm8 | C | G545 T546 D867 | BG6 | BETA-D-GLUCOSE 6-PHOSPHATE | 3hm8 | D | G545 T546 D867 |
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Conservation information for LBS of HK3 |
Multiple alignments for P52790 in multiple species |
LBS | AA sequence | # species | Species | D222 | VAMVNDTVGTM | 2 | Mus musculus, Rattus norvegicus | D222 | VAVVNDTVGTM | 1 | Homo sapiens | D542 | DFLALDLGGTN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D867 | VSVGVDGTLYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E714 | MCINMEWGAFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E748 | GKQRFEKMISG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F610 | GFTFSFPCKQL | 2 | Mus musculus, Rattus norvegicus | F610 | GFTFSFPCRQL | 1 | Homo sapiens | G246 | LIVDTGTNACY | 2 | Mus musculus, Rattus norvegicus | G246 | LVVDTGTNACY | 1 | Homo sapiens | G545 | ALDLGGTNFRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G685 | MGLIVGTGTNA | 2 | Mus musculus, Rattus norvegicus | G685 | IGLIVGTGTNA | 1 | Homo sapiens | G868 | SVGVDGTLYKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G902 | LQSEDGSGKGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I683 | CEMGLIVGTGT | 2 | Mus musculus, Rattus norvegicus | I683 | CEIGLIVGTGT | 1 | Homo sapiens | K627 | LLNWTKGFNAS | 2 | Mus musculus, Rattus norvegicus | K627 | LLNWTKGFKAS | 1 | Homo sapiens | N221 | VVAMVNDTVGT | 2 | Mus musculus, Rattus norvegicus | N221 | VVAVVNDTVGT | 1 | Homo sapiens | N248 | VDTGTNACYME | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q304 | LNPGAQRFEKM | 1 | Homo sapiens | Q304 | LTPGAQRFEKM | 1 | Mus musculus | Q304 | LVPGAQRFEKM | 1 | Rattus norvegicus | S609 | LGFTFSFPCKQ | 2 | Mus musculus, Rattus norvegicus | S609 | LGFTFSFPCRQ | 1 | Homo sapiens | S903 | QSEDGSGKGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T223 | AMVNDTVGTMM | 2 | Mus musculus, Rattus norvegicus | T223 | AVVNDTVGTMM | 1 | Homo sapiens | T245 | GLIVDTGTNAC | 2 | Mus musculus, Rattus norvegicus | T245 | GLVVDTGTNAC | 1 | Homo sapiens | T247 | IVDTGTNACYM | 2 | Mus musculus, Rattus norvegicus | T247 | VVDTGTNACYM | 1 | Homo sapiens | T546 | LDLGGTNFRVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T626 | ILLNWTKGFNA | 2 | Mus musculus, Rattus norvegicus | T626 | ILLNWTKGFKA | 1 | Homo sapiens | T869 | VGVDGTLYKLH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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