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mutLBSgeneDB |
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| Gene summary for GALK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GALK1 |
| Gene name | galactokinase 1 | |
| Synonyms | GALK|GK1|HEL-S-19 | |
| Cytomap | UCSC genome browser: 17q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000154.1, | |
| Description | epididymis secretory protein Li 19galactokinasegalactose kinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604313 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000108479 | ||
| HPRD : 05057 | ||
| Vega : OTTHUMG00000179832 | ||
| Protein | UniProt: P51570 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GALK1 | |
| BioGPS: 2584 | ||
| Pathway | NCI Pathway Interaction Database: GALK1 | |
| KEGG: GALK1 | ||
| REACTOME: GALK1 | ||
| Pathway Commons: GALK1 | ||
| Context | iHOP: GALK1 | |
| ligand binding site mutation search in PubMed: GALK1 | ||
| UCL Cancer Institute: GALK1 | ||
| 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 GALK1 |
| 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 | Y236 | S234G | STAD | 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 GALK1 |
| 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 | Y236 | S234G | -0.24859598 |
| (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 GALK1 from PDB |
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| Differential gene expression and gene-gene network for GALK1 |
| 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 GALK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0086543 | Cataract | 12 | Biomarker |
| umls:C0268155 | Deficiency of galactokinase | 11 | Biomarker, GeneticVariation |
| umls:C0016952 | Galactosemias | 11 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GALK1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04395 | Phosphoaminophosphonic Acid-Adenylate Ester | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GALK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLA | ALPHA-D-GALACTOSE | 1wuu | A | Y236 | GLA | ALPHA-D-GALACTOSE | 1wuu | B | Y236 | GLA | ALPHA-D-GALACTOSE | 1wuu | C | Y236 | GLA | ALPHA-D-GALACTOSE | 1wuu | D | Y236 |
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| Conservation information for LBS of GALK1 |
| Multiple alignments for P51570 in multiple species |
| LBS | AA sequence | # species | Species | A82 | TTSEDADEPRR | 2 | Bos taurus, Canis lupus familiaris | A82 | TTSEGADEPQR | 1 | Homo sapiens | A82 | SAQFEGEVCFR | 1 | Arabidopsis thaliana | A82 | TTSKDADEPQR | 1 | Mus musculus | C182 | FAGVPCGIMDQ | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | C182 | FAGMPCGIMDQ | 1 | Homo sapiens | C182 | YLGLRNGILDQ | 1 | Arabidopsis thaliana | D186 | PCGIMDQLIAL | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | D186 | PCGIMDQFISL | 1 | Homo sapiens | D186 | RNGILDQSAIL | 1 | Arabidopsis thaliana | D46 | IGEHTDYNQGL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D46 | LGAHIDHQGGT | 1 | Arabidopsis thaliana | D46 | IGEHTDYNRGL | 1 | Bos taurus | E174 | VCQQAEHSFAG | 2 | Homo sapiens, Canis lupus familiaris | E174 | VCQRAEHSFAG | 2 | Mus musculus, Bos taurus | E174 | YDRLIENGYLG | 1 | Arabidopsis thaliana | E43 | VNLIGEHTDYN | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | E43 | ICPLGAHIDHQ | 1 | Arabidopsis thaliana | G136 | SVPL-GGGLSS | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | G136 | SNGLDSSGLSS | 1 | Arabidopsis thaliana | G137 | VPL-GGGLSSS | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | G137 | NGLDSSGLSSS | 1 | Arabidopsis thaliana | G138 | PL-GGGLSSSA | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | G138 | GLDSSGLSSSA | 1 | Arabidopsis thaliana | G183 | AGVPCGIMDQL | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | G183 | AGMPCGIMDQF | 1 | Homo sapiens | G183 | LGLRNGILDQS | 1 | Arabidopsis thaliana | G345 | GSRMTGGGFGG | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | G345 | GARFSGAGFRG | 1 | Arabidopsis thaliana | G346 | SRMTGGGFGGC | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | G346 | ARFSGAGFRGC | 1 | Arabidopsis thaliana | H44 | NLIGEHTDYNQ | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | H44 | CPLGAHIDHQG | 1 | Arabidopsis thaliana | H44 | NLIGEHTDYNR | 1 | Bos taurus | L135 | VSSVPL-GGGL | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | L135 | SGSNGLDSSGL | 1 | Arabidopsis thaliana | L139 | L-GGGLSSSAS | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | L139 | LDSSGLSSSAA | 1 | Arabidopsis thaliana | L145 | SSSASLEVATY | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | L145 | SSSAAVGVAYL | 1 | Arabidopsis thaliana | M185 | VPCGIMDQLIA | 3 | Mus musculus, Bos taurus, Canis lupus familiaris | M185 | MPCGIMDQFIS | 1 | Homo sapiens | M185 | LRNGILDQSAI | 1 | Arabidopsis thaliana | P134 | VVSSVPL-GGG | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | P134 | LSGSNGLDSSG | 1 | Arabidopsis thaliana | R37 | VSAPGRVNLIG | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | R37 | VVAPYRICPLG | 1 | Arabidopsis thaliana | S131 | SAVVVSSVPL- | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | S131 | IGYLSGSNGLD | 1 | Arabidopsis thaliana | S140 | -GGGLSSSASL | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | S140 | DSSGLSSSAAV | 1 | Arabidopsis thaliana | S141 | GGGLSSSASLE | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | S141 | SSGLSSSAAVG | 1 | Arabidopsis thaliana | S142 | GGLSSSASLEV | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | S142 | SGLSSSAAVGV | 1 | Arabidopsis thaliana | S79 | SLLTTSEDADE | 2 | Bos taurus, Canis lupus familiaris | S79 | SLLTTSEGADE | 1 | Homo sapiens | S79 | QLRSAQFEGEV | 1 | Arabidopsis thaliana | S79 | SLLTTSKDADE | 1 | Mus musculus | T77 | LVSLLTTSEDA | 2 | Bos taurus, Canis lupus familiaris | T77 | LVSLLTTSEGA | 1 | Homo sapiens | T77 | QVQLRSAQFEG | 1 | Arabidopsis thaliana | T77 | LVSLLTTSKDA | 1 | Mus musculus | V129 | GFSAVVVSSVP | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | V129 | GIIGYLSGSNG | 1 | Arabidopsis thaliana | W106 | -----WANYVK | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | W106 | KEKSIWGTYAR | 1 | Arabidopsis thaliana | Y109 | --WANYVKGVI | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | Y109 | SIWGTYARGAV | 1 | Arabidopsis thaliana | Y236 | GSSE-YPLRRR | 2 | Bos taurus, Canis lupus familiaris | Y236 | ASSE-YPVRRR | 1 | Homo sapiens | Y236 | TTNPGYNLRVS | 1 | Arabidopsis thaliana | Y236 | GSSE-YPVRRR | 1 | Mus musculus | Y47 | GEHTDYNQGLV | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | Y47 | GAHIDHQGGTV | 1 | Arabidopsis thaliana | Y47 | GEHTDYNRGLV | 1 | Bos taurus |
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