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mutLBSgeneDB |
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| Gene summary for MICU1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MICU1 |
| Gene name | mitochondrial calcium uptake 1 | |
| Synonyms | CALC|CBARA1|EFHA3|MPXPS | |
| Cytomap | UCSC genome browser: 10q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001195518.1, NM_001195519.1,NM_006077.3, | |
| Description | ara CALCatopy-related autoantigen CALCcalcium uptake protein 1, mitochondrialcalcium-binding atopy-related autoantigen 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605084 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107745 | ||
| HPRD : 05471 | ||
| Vega : OTTHUMG00000018437 | ||
| Protein | UniProt: Q9BPX6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MICU1 | |
| BioGPS: 10367 | ||
| Pathway | NCI Pathway Interaction Database: MICU1 | |
| KEGG: MICU1 | ||
| REACTOME: MICU1 | ||
| Pathway Commons: MICU1 | ||
| Context | iHOP: MICU1 | |
| ligand binding site mutation search in PubMed: MICU1 | ||
| UCL Cancer Institute: MICU1 | ||
| 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:0006851 | mitochondrial calcium ion transport | 24560927 | GO:0051260 | protein homooligomerization | 24514027 | GO:0051561 | positive regulation of mitochondrial calcium ion concentration | 24560927 | GO:0070509 | calcium ion import | 20693986 |
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| Ligand binding site mutations for MICU1 |
| 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 | E432 | F433L | KIRC | 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 MICU1 |
| 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 | E432 | F433L | -1.1761282 |
| (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 MICU1 from PDB |
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| Differential gene expression and gene-gene network for MICU1 |
| 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 MICU1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0026650 | Movement Disorders | 1 | Biomarker |
| umls:C0026848 | Muscular Diseases | 1 | Biomarker |
| umls:C0004782 | Basal Ganglia Diseases | 1 | Biomarker |
| umls:C0023186 | Learning Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MICU1 |
| 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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| 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 MICU1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4nsd | A | E432 | CA | CALCIUM(2+) | 4nsd | B | E432 |
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| Conservation information for LBS of MICU1 |
| Multiple alignments for Q9BPX6 in multiple species |
| LBS | AA sequence | # species | Species | D231 | AFKMFDLNGDG | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | D231 | AFKIFDVDGNG | 1 | Caenorhabditis elegans | D231 | AFRMFDLNGDG | 1 | Drosophila melanogaster | D235 | FDLNGDGEVDM | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | D235 | FDVDGNGALDK | 1 | Caenorhabditis elegans | D235 | FDLNGDGDVDC | 1 | Drosophila melanogaster | D235 | FDLNGDGEVDL | 1 | Danio rerio | D421 | VFALFDCDGNG | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | D421 | VITLFDDNLDG | 1 | Caenorhabditis elegans | D421 | VFTIFDENNDN | 1 | Drosophila melanogaster | D423 | ALFDCDGNGEL | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | D423 | TLFDDNLDGKL | 1 | Caenorhabditis elegans | D423 | TIFDENNDNQL | 1 | Drosophila melanogaster | E237 | LNGDGEVDMEE | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | E237 | VDGNGALDKEE | 1 | Caenorhabditis elegans | E237 | LNGDGDVDCEE | 1 | Drosophila melanogaster | E237 | LNGDGEVDLEE | 1 | Danio rerio | E242 | EVDMEEFEQVQ | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | E242 | ALDKEEFTKVQ | 1 | Caenorhabditis elegans | E242 | DVDCEEFEMVA | 1 | Drosophila melanogaster | E242 | EVDLEEFEQVQ | 1 | Danio rerio | E427 | CDGNGELSNKE | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | E427 | DNLDGKLSHEE | 1 | Caenorhabditis elegans | E427 | ENNDNQLSNKE | 1 | Drosophila melanogaster | E432 | ELSNKEFVSIM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E432 | ELSNKEFIAIM | 2 | Danio rerio, Xenopus tropicalis | E432 | KLSHEEMVAVM | 1 | Caenorhabditis elegans | E432 | QLSNKEFISVM | 1 | Drosophila melanogaster | L428 | DGNGELSNKEF | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | L428 | NLDGKLSHEEM | 1 | Caenorhabditis elegans | L428 | NNDNQLSNKEF | 1 | Drosophila melanogaster | N233 | KMFDLNGDGEV | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | N233 | KIFDVDGNGAL | 1 | Caenorhabditis elegans | N233 | RMFDLNGDGDV | 1 | Drosophila melanogaster | N425 | FDCDGNGELSN | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | N425 | FDDNLDGKLSH | 1 | Caenorhabditis elegans | N425 | FDENNDNQLSN | 1 | Drosophila melanogaster | V238 | NGDGEVDMEEF | 5 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | V238 | DGNGALDKEEF | 1 | Caenorhabditis elegans | V238 | NGDGDVDCEEF | 1 | Drosophila melanogaster | V238 | NGDGEVDLEEF | 1 | Danio rerio |
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