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mutLBSgeneDB |
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| Gene summary for MAN1B1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MAN1B1 |
| Gene name | mannosidase, alpha, class 1B, member 1 | |
| Synonyms | ERMAN1|MANA-ER|MRT15 | |
| Cytomap | UCSC genome browser: 9q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016219.4, NR_045720.1,NR_045721.1, | |
| Description | ER alpha 1,2-mannosidaseMan9GlcNAc2-specific processing alpha-mannosidaseendoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidaseendoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 604346 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000177239 | ||
| HPRD : 05068 | ||
| Vega : OTTHUMG00000020978 | ||
| Protein | UniProt: Q9UKM7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MAN1B1 | |
| BioGPS: 11253 | ||
| Pathway | NCI Pathway Interaction Database: MAN1B1 | |
| KEGG: MAN1B1 | ||
| REACTOME: MAN1B1 | ||
| Pathway Commons: MAN1B1 | ||
| Context | iHOP: MAN1B1 | |
| ligand binding site mutation search in PubMed: MAN1B1 | ||
| UCL Cancer Institute: MAN1B1 | ||
| 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 MAN1B1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F329 | E330Q | BRCA | 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 MAN1B1 |
| 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 | F329 | E330Q | -1.559192 |
| (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 MAN1B1 from PDB |
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| Differential gene expression and gene-gene network for MAN1B1 |
| 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 MAN1B1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3714756 | Intellectual Disability | 2 | Biomarker |
| umls:C3280127 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MAN1B1 |
| 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 | DB01955 | 1,4-Butanediol | Small molecule |  |
| Experimental | DB02422 | Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside | Small molecule |  |
| Experimental | DB02742 | Kifunensine | Small molecule |  |
| Experimental | DB03206 | Duvoglustat | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MAN1B1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SMD | METHYL-2-DEOXY-2-S-(ALPHA-D-MANNOPYRANOSYL)-2-THIO-ALPHA-D-MANNOPYRANOSIDE | 1x9d | A | F329 |
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| Conservation information for LBS of MAN1B1 |
| Multiple alignments for Q9UKM7 in multiple species |
| LBS | AA sequence | # species | Species | A396 | SDSTVAEVTSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A396 | GASSTAEVASV | 1 | Arabidopsis thaliana | D463 | LGARADSYYEY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D463 | LGSRGDSYYEY | 1 | Arabidopsis thaliana | E397 | DSTVAEVTSIQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E397 | ASSTAEVASVQ | 1 | Arabidopsis thaliana | E599 | NLLRPETVESL | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | E663 | SFFVGETLKYL | 2 | Mus musculus, Rattus norvegicus | E663 | SFFLGETLKYL | 1 | Homo sapiens | E663 | TFFLGETLKYL | 1 | Arabidopsis thaliana | E689 | CVFNTEAHPLP | 2 | Mus musculus, Rattus norvegicus | E689 | YVFNTEAHPLP | 1 | Homo sapiens | E689 | FVFNTEAHPLP | 1 | Arabidopsis thaliana | F329 | VDVNLFESTIR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F329 | GQVNLFETTIR | 1 | Arabidopsis thaliana | F659 | DKMESFFVGET | 2 | Mus musculus, Rattus norvegicus | F659 | DKMESFFLGET | 1 | Homo sapiens | F659 | DKMETFFLGET | 1 | Arabidopsis thaliana | I333 | LFESTIRILGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I333 | LFETTIRVLGG | 1 | Arabidopsis thaliana | L525 | AKMDHLVCFLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L525 | PKMDHLVCFLP | 1 | Arabidopsis thaliana | P598 | HNLLRPETVES | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | R334 | FESTIRILGGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R334 | FETTIRVLGGL | 1 | Arabidopsis thaliana | R461 | FTLGARADSYY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R461 | -RLGSRGDSYY | 1 | Arabidopsis thaliana | R597 | RHNLLRPETVE | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | T688 | AYVFNTEAHPL | 1 | Homo sapiens | T688 | KFVFNTEAHPL | 1 | Arabidopsis thaliana | T688 | SCVFNTEAHPL | 1 | Mus musculus | T688 | TCVFNTEAHPL | 1 | Rattus norvegicus |
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