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mutLBSgeneDB |
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| Gene summary for LMAN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | LMAN1 |
| Gene name | lectin, mannose-binding, 1 | |
| Synonyms | ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58 | |
| Cytomap | UCSC genome browser: 18q21.3-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005570.3, | |
| Description | ER-Golgi intermediate compartment 53 kDa proteinendoplasmic reticulum-golgi intermediate compartment protein 53intracellular mannose specific lectinintracellular mannose-specific lectin MR60protein ERGIC-53 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601567 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000074695 | ||
| HPRD : 03338 | ||
| Vega : OTTHUMG00000132758 | ||
| Protein | UniProt: P49257 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LMAN1 | |
| BioGPS: 3998 | ||
| Pathway | NCI Pathway Interaction Database: LMAN1 | |
| KEGG: LMAN1 | ||
| REACTOME: LMAN1 | ||
| Pathway Commons: LMAN1 | ||
| Context | iHOP: LMAN1 | |
| ligand binding site mutation search in PubMed: LMAN1 | ||
| UCL Cancer Institute: LMAN1 | ||
| 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 LMAN1 |
| 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 | D152 | F150V | COAD | 1 | D152 | D152Y | GBM | 1 | D121 | L123P | SKCM | 1 | N162 | P163S | SKCM | 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 LMAN1 |
| 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 | D121 | L123P | -1.3357416 | N162 | P163S | -1.1830394 | D152 | F150V | -0.69645292 | D152 | D152Y | -0.60200601 |
| (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 LMAN1 from PDB |
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| Differential gene expression and gene-gene network for LMAN1 |
| 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 LMAN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1856883 | Familial Multiple Coagulation Factor Deficiency I | 7 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for LMAN1 |
| 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 |
| Approved|investigational | DB00025 | Antihemophilic Factor (Recombinant) | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LMAN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | A | D121 | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | B | D121 | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | C | D121 | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | D | D121 | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | E | D121 | 2M4 | 2-O-ALPHA-D-MANNOPYRANOSYL-ALPHA-D-MANNOPYRANOSE | 4gkx | F | D121 | MAN | ALPHA-D-MANNOSE | 4gky | A | D121 | CA | CALCIUM(2+) | 3a4u | A | D152 | CA | CALCIUM(2+) | 3lcp | A | D152 | CA | CALCIUM(2+) | 3lcp | B | D152 | CA | CALCIUM(2+) | 4gkx | A | D152 | CA | CALCIUM(2+) | 4gkx | B | D152 | CA | CALCIUM(2+) | 4gkx | C | D152 | CA | CALCIUM(2+) | 4gkx | D | D152 | CA | CALCIUM(2+) | 4gkx | E | D152 | CA | CALCIUM(2+) | 4gkx | F | D152 | CA | CALCIUM(2+) | 4gky | A | D152 | CA | CALCIUM(2+) | 3whu | A | D152 | CA | CALCIUM(2+) | 3wnx | A | D152 | CA | CALCIUM(2+) | 3a4u | A | N162 | CA | CALCIUM(2+) | 3lcp | A | N162 | CA | CALCIUM(2+) | 3lcp | B | N162 | CA | CALCIUM(2+) | 4gkx | A | N162 | CA | CALCIUM(2+) | 4gkx | B | N162 | CA | CALCIUM(2+) | 4gkx | C | N162 | CA | CALCIUM(2+) | 4gkx | D | N162 | CA | CALCIUM(2+) | 4gkx | E | N162 | CA | CALCIUM(2+) | 4gkx | F | N162 | CA | CALCIUM(2+) | 4gky | A | N162 | CA | CALCIUM(2+) | 3whu | A | N162 | CA | CALCIUM(2+) | 3wnx | A | N162 |
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| Conservation information for LBS of LMAN1 |
| Multiple alignments for P49257 in multiple species |
| LBS | AA sequence | # species | Species | A120 | RGRIGADGLAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D121 | GRIGADGLAIW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D152 | VGIFFDSFDND | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D155 | FFDSFDNDGKK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D157 | DSFDNDGKKNN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D181 | YDHQNDGATQA | 2 | Mus musculus, Rattus norvegicus | D181 | YDHQNDGASQA | 1 | Homo sapiens | F154 | IFFDSFDNDGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G251 | ISAATGGLADD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G252 | SAATGGLADDH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H178 | QINYDHQNDGA | 2 | Mus musculus, Rattus norvegicus | H178 | QIHYDHQNDGA | 1 | Homo sapiens | L253 | AATGGLADDHD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N156 | FDSFDNDGKKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N161 | NDGKKNNPAIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N162 | DGKKNNPAIVV | 2 | Mus musculus, Rattus norvegicus | N162 | DGKKNNPAIVI | 1 | Homo sapiens |
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