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mutLBSgeneDB |
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| Gene summary for GALM |
 Gene summary |
| Basic gene Info. | Gene symbol | GALM |
| Gene name | galactose mutarotase (aldose 1-epimerase) | |
| Synonyms | GLAT|HEL-S-63p|IBD1 | |
| Cytomap | UCSC genome browser: 2p22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_138801.2, | |
| Description | aldose 1-epimeraseepididymis secretory sperm binding protein Li 63pgalactomutarotasegalactose enzyme activator | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 137030 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000143891 | ||
| HPRD : 13559 | ||
| Vega : OTTHUMG00000102077 | ||
| Protein | UniProt: Q96C23 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GALM | |
| BioGPS: 130589 | ||
| Pathway | NCI Pathway Interaction Database: GALM | |
| KEGG: GALM | ||
| REACTOME: GALM | ||
| Pathway Commons: GALM | ||
| Context | iHOP: GALM | |
| ligand binding site mutation search in PubMed: GALM | ||
| UCL Cancer Institute: GALM | ||
| 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:0006006 | glucose metabolic process | 12753898 | GO:0006012 | galactose metabolic process | 12753898 |
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| Ligand binding site mutations for GALM |
| 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 | P70 | Y71C | COAD | 1 | D243 | N245I | KIRC | 1 | E307 | T308A | 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 GALM |
| 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 | E307 | T308A | -1.6851164 | P70 | Y71C | -0.63647357 | D243 | N245I | -0.32146543 |
| (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 GALM from PDB |
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| Differential gene expression and gene-gene network for GALM |
| 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 GALM |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GALM |
| 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 GALM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GAL | BETA-D-GALACTOSE | 1so0 | A | P70 D243 E307 | GAL | BETA-D-GALACTOSE | 1so0 | B | P70 D243 E307 | GAL | BETA-D-GALACTOSE | 1so0 | C | P70 D243 E307 | GAL | BETA-D-GALACTOSE | 1so0 | D | P70 D243 E307 |
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| Conservation information for LBS of GALM |
| Multiple alignments for Q96C23 in multiple species |
| LBS | AA sequence | # species | Species | D243 | HIHGFDHNFCL | 2 | Mus musculus, Rattus norvegicus | D243 | HLNGFDHNFCL | 1 | Homo sapiens | D243 | HVNGFDHNFCL | 1 | Bos taurus | E307 | SGFCLETQNWP | 2 | Homo sapiens, Rattus norvegicus | E307 | SGLCLETQNWP | 1 | Mus musculus | E307 | SGFCLETQSWP | 1 | Bos taurus | H107 | EPNSLHGGVRG | 1 | Homo sapiens | H107 | EPNSLHGGFTG | 1 | Mus musculus | H107 | EPNSLHGGFRG | 1 | Rattus norvegicus | H107 | GPNSLHGGVKG | 1 | Bos taurus | H176 | VNLTNHSYFNL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L106 | KEPNSLHGGVR | 1 | Homo sapiens | L106 | REPNSLHGGFT | 1 | Mus musculus | L106 | REPNSLHGGFR | 1 | Rattus norvegicus | L106 | NGPNSLHGGVK | 1 | Bos taurus | N81 | VGRVANRIAKG | 3 | Mus musculus, Rattus norvegicus, Bos taurus | N81 | IGRVANRIAKG | 1 | Homo sapiens | P70 | YLQKQPYFGAV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q279 | TQPGVQFYTGN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R82 | GRVANRIAKGT | 2 | Homo sapiens, Bos taurus | R82 | GRVANRIAKGR | 2 | Mus musculus, Rattus norvegicus | Y178 | LTNHSYFNLAG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y281 | PGVQFYTGNFL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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