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mutLBSgeneDB |
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| Gene summary for MIEF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MIEF1 |
| Gene name | mitochondrial elongation factor 1 | |
| Synonyms | HSU79252|MID51|SMCR7L|dJ1104E15.3 | |
| Cytomap | UCSC genome browser: 22q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_019008.4, | |
| Description | SMCR7-like proteinSmith-Magenis syndrome chromosome region, candidate 7-likemitochondrial dynamic protein MID51mitochondrial dynamic protein of 51 kDamitochondrial dynamics protein MID51mitochondrial dynamics protein of 51 kDasmith-Magenis syndrome | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 615497 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100335 | ||
| HPRD : 13371 | ||
| Vega : OTTHUMG00000151105 | ||
| Protein | UniProt: Q9NQG6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MIEF1 | |
| BioGPS: 54471 | ||
| Pathway | NCI Pathway Interaction Database: MIEF1 | |
| KEGG: MIEF1 | ||
| REACTOME: MIEF1 | ||
| Pathway Commons: MIEF1 | ||
| Context | iHOP: MIEF1 | |
| ligand binding site mutation search in PubMed: MIEF1 | ||
| UCL Cancer Institute: MIEF1 | ||
| 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:0090141 | positive regulation of mitochondrial fission | 23283981 | GO:0090314 | positive regulation of protein targeting to membrane | 23283981 | GO:0090314 | positive regulation of protein targeting to membrane | 23921378 |
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| Ligand binding site mutations for MIEF1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K368 | I370T | BRCA | 1 | S340 | R338W | STAD | 1 | R342,S340 | L341M | 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 MIEF1 |
| 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 | K368 | I370T | -1.9610438 | S340 | R338W | -0.75375364 | S340 | L341M | -0.71955913 | R342 | L341M | -0.71955913 |
| (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 MIEF1 from PDB |
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| Differential gene expression and gene-gene network for MIEF1 |
| 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 MIEF1 |
| 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 MIEF1 |
| 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 MIEF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 4nxu | A | S340 R342 K368 | ADP | ADP | 4nxu | B | S340 R342 K368 | ADP | ADP | 4nxu | C | S340 R342 K368 | ADP | ADP | 4nxu | D | S340 R342 K368 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4nxv | A | S340 R342 K368 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4nxv | B | S340 R342 K368 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4nxv | C | S340 R342 K368 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4nxv | D | S340 R342 K368 | ADP | ADP | 4nxw | A | S340 R342 K368 | GDP | GUANOSINE-5'-DIPHOSPHATE | 4nxx | A | S340 R342 K368 |
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| Conservation information for LBS of MIEF1 |
| Multiple alignments for Q9NQG6 in multiple species |
| LBS | AA sequence | # species | Species | A382 | LGHLTASQLTN | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | A382 | LARLNASQLTN | 1 | Danio rerio | D311 | KHLVIDFLPSV | 2 | Rattus norvegicus, Mus musculus | D311 | KHLFIDFLPSV | 1 | Homo sapiens | D311 | RRLYVDFLPLL | 1 | Danio rerio | G188 | DMYLSGSLYDD | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | G188 | EMYLSGSLYDD | 1 | Danio rerio | H201 | VVTADHIQLIV | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | H201 | VVTADHAQLMV | 1 | Danio rerio | I205 | DHIQLIVPLVL | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | I205 | DHAQLMVPLIL | 1 | Danio rerio | K326 | V-LVARPHRLA | 2 | Rattus norvegicus, Mus musculus | K326 | V-LVAKPHRLA | 1 | Homo sapiens | K326 | VSLIAKPHRLA | 1 | Danio rerio | K368 | CLKILKAICKS | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | K368 | CLKILKAVCKL | 1 | Danio rerio | L313 | LVIDFLPSVTL | 2 | Rattus norvegicus, Mus musculus | L313 | LFIDFLPSVTL | 1 | Homo sapiens | L313 | LYVDFLPLLVM | 1 | Danio rerio | P343 | RLSLRPAETAR | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | P343 | RQSFRVAETAK | 1 | Danio rerio | Q203 | TADHIQLIVPL | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | Q203 | TADHAQLMVPL | 1 | Danio rerio | R342 | WRLSLRPAETA | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | R342 | WRQSFRVAETA | 1 | Danio rerio | S187 | RDMYLSGSLYD | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S187 | REMYLSGSLYD | 1 | Danio rerio | S189 | MYLSGSLYDDL | 4 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus | S340 | NLWRLSLRPAE | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S340 | NLWRQSFRVAE | 1 | Danio rerio | V324 | DTV-LVARPHR | 2 | Rattus norvegicus, Mus musculus | V324 | DTV-LVAKPHR | 1 | Homo sapiens | V324 | DGVSLIAKPHR | 1 | Danio rerio |
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