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mutLBSgeneDB |
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| Gene summary for MMACHC |
 Gene summary |
| Basic gene Info. | Gene symbol | MMACHC |
| Gene name | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
| Synonyms | cblC | |
| Cytomap | UCSC genome browser: 1p34.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015506.2, | |
| Description | methylmalonic aciduria and homocystinuria type C protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 609831 | |
| HGNC : HGNC | ||
| HPRD : 18585 | ||
| Protein | UniProt: Q9Y4U1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MMACHC | |
| BioGPS: 25974 | ||
| Pathway | NCI Pathway Interaction Database: MMACHC | |
| KEGG: MMACHC | ||
| REACTOME: MMACHC | ||
| Pathway Commons: MMACHC | ||
| Context | iHOP: MMACHC | |
| ligand binding site mutation search in PubMed: MMACHC | ||
| UCL Cancer Institute: MMACHC | ||
| 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 MMACHC |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F196 | E194K | PRAD | 1 | P113 | R112H | STAD | 1 | F196 | N197I | UCEC | 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 MMACHC |
| 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 | P113 | R112H | -1.716089 | F196 | E194K | -0.71881809 | F196 | N197I | -0.13657 |
| (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 MMACHC from PDB |
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| Differential gene expression and gene-gene network for MMACHC |
| 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 MMACHC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1848561 | Methylmalonic acidemia with homocystinuria | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MMACHC |
| 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|nutraceutical | DB00115 | Cyanocobalamin | Small molecule |  |
| Approved | DB00200 | Hydroxocobalamin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MMACHC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COB | METHYLCOBALAMIN | 3sc0 | A | P113 F196 | B12 | COBALAMIN | 3som | A | P113 F196 | B12 | COBALAMIN | 3som | B | P113 F196 | B12 | COBALAMIN | 3som | C | P113 F196 | B12 | COBALAMIN | 3som | D | P113 F196 | B12 | COBALAMIN | 3som | E | P113 F196 | B12 | COBALAMIN | 3som | F | P113 F196 | B12 | COBALAMIN | 3som | G | P113 F196 | B12 | COBALAMIN | 3som | H | P113 F196 | B12 | COBALAMIN | 3som | I | P113 F196 | B12 | COBALAMIN | 3som | J | P113 F196 | B12 | COBALAMIN | 3som | K | P113 F196 | B12 | COBALAMIN | 3som | L | P113 F196 | B12 | COBALAMIN | 3som | M | P113 F196 | B12 | COBALAMIN | 3som | N | P113 F196 | B12 | COBALAMIN | 3som | O | P113 F196 | B12 | COBALAMIN | 3som | P | P113 F196 |
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| Conservation information for LBS of MMACHC |
| Multiple alignments for Q9Y4U1 in multiple species |
| LBS | AA sequence | # species | Species | A117 | RPKILAQTAAH | 2 | Homo sapiens, Mus musculus | A117 | RPKILMQTCGH | 1 | Caenorhabditis elegans | A117 | RPKFLAQTAAH | 1 | Gallus gallus | A159 | FGGWFAIRGVV | 1 | Homo sapiens | A159 | YGGHFAFRSVL | 1 | Caenorhabditis elegans | A159 | YGGWFAIRGLL | 1 | Gallus gallus | A159 | FGGWFAIRGVM | 1 | Mus musculus | C149 | RISGVCIHPRF | 1 | Homo sapiens | C149 | KFIGLSLHPIY | 1 | Caenorhabditis elegans | C149 | KIFGVCIHPKY | 1 | Gallus gallus | C149 | HIAGVCIHPRF | 1 | Mus musculus | C182 | RKPHDCVPTRA | 1 | Homo sapiens | C182 | KEPRPILTASE | 1 | Caenorhabditis elegans | C182 | SAPVDCVSTEE | 1 | Gallus gallus | C182 | RKPPDCVPTRA | 1 | Mus musculus | D104 | IEIIADYEVHP | 1 | Homo sapiens | D104 | FEILHDYSMTP | 1 | Caenorhabditis elegans | D104 | VDVIFDYEILP | 1 | Gallus gallus | D104 | MEVIADYEVHP | 1 | Mus musculus | F196 | ALLEGFNFHWR | 1 | Homo sapiens | F196 | TALEKFNYNWK | 1 | Caenorhabditis elegans | F196 | ELLELFNFHWQ | 1 | Gallus gallus | F196 | TLLEGFNFHWR | 1 | Mus musculus | H122 | AQTAAHVAGAA | 3 | Homo sapiens, Gallus gallus, Mus musculus | H122 | MQTCGHVAGAA | 1 | Caenorhabditis elegans | H180 | PPRKPHDCVPT | 1 | Homo sapiens | H180 | CEKEPRPILTA | 1 | Caenorhabditis elegans | H180 | EQSAPVDCVST | 1 | Gallus gallus | H180 | PPRKPPDCVPT | 1 | Mus musculus | I115 | NRRPKILAQTA | 2 | Homo sapiens, Mus musculus | I115 | QRRPKILMQTC | 1 | Caenorhabditis elegans | I115 | SRRPKFLAQTA | 1 | Gallus gallus | I160 | GGWFAIRGVVL | 1 | Homo sapiens | I160 | GGHFAFRSVLI | 1 | Caenorhabditis elegans | I160 | GGWFAIRGLLL | 1 | Gallus gallus | I160 | GGWFAIRGVML | 1 | Mus musculus | L116 | RRPKILAQTAA | 2 | Homo sapiens, Mus musculus | L116 | RRPKILMQTCG | 1 | Caenorhabditis elegans | L116 | RRPKFLAQTAA | 1 | Gallus gallus | L34 | AWYNELL--PP | 2 | Homo sapiens, Mus musculus | L34 | GSYNEAVGESS | 1 | Caenorhabditis elegans | L34 | GWYNAVL--QP | 1 | Gallus gallus | L35 | WYNELL--PPA | 2 | Homo sapiens, Mus musculus | L35 | SYNEAVGESSP | 1 | Caenorhabditis elegans | L35 | WYNAVL--QPA | 1 | Gallus gallus | P113 | HPNRRPKILAQ | 2 | Homo sapiens, Mus musculus | P113 | TPQRRPKILMQ | 1 | Caenorhabditis elegans | P113 | LPSRRPKFLAQ | 1 | Gallus gallus | P152 | GVCIHPRFGGW | 2 | Homo sapiens, Mus musculus | P152 | GLSLHPIYGGH | 1 | Caenorhabditis elegans | P152 | GVCIHPKYGGW | 1 | Gallus gallus | P36 | ELL--PPAFHL | 2 | Homo sapiens, Mus musculus | P36 | EAVGESSPFAL | 1 | Caenorhabditis elegans | P36 | AVL--QPAFHL | 1 | Gallus gallus | Q118 | PKILAQTAAHV | 2 | Homo sapiens, Mus musculus | Q118 | PKILMQTCGHV | 1 | Caenorhabditis elegans | Q118 | PKFLAQTAAHV | 1 | Gallus gallus | Q131 | AAYYYQRQDVE | 1 | Homo sapiens | Q131 | AAFYYQPCHFQ | 1 | Caenorhabditis elegans | Q131 | AAYYYQRKDVK | 1 | Gallus gallus | Q131 | AAYYYQRQDVD | 1 | Mus musculus | Q133 | YYYQRQDVEAD | 1 | Homo sapiens | Q133 | FYYQPCHFQED | 1 | Caenorhabditis elegans | Q133 | YYYQRKDVKLD | 1 | Gallus gallus | Q133 | YYYQRQDVDAD | 1 | Mus musculus | R144 | --GNQRISGVC | 1 | Homo sapiens | R144 | MGPNLKFIGLS | 1 | Caenorhabditis elegans | R144 | --GEKKIFGVC | 1 | Gallus gallus | R144 | --GTQHIAGVC | 1 | Mus musculus | S146 | GNQRISGVCIH | 1 | Homo sapiens | S146 | PNLKFIGLSLH | 1 | Caenorhabditis elegans | S146 | GEKKIFGVCIH | 1 | Gallus gallus | S146 | GTQHIAGVCIH | 1 | Mus musculus | T119 | KILAQTAAHVA | 2 | Homo sapiens, Mus musculus | T119 | KILMQTCGHVA | 1 | Caenorhabditis elegans | T119 | KFLAQTAAHVA | 1 | Gallus gallus | V148 | QRISGVCIHPR | 1 | Homo sapiens | V148 | LKFIGLSLHPI | 1 | Caenorhabditis elegans | V148 | KKIFGVCIHPK | 1 | Gallus gallus | V148 | QHIAGVCIHPR | 1 | Mus musculus | V209 | TYRDAVTPQER | 1 | Homo sapiens | V209 | GFRDFGNPTRR | 1 | Caenorhabditis elegans | V209 | RYRDIIEVKER | 1 | Gallus gallus | V209 | TYRDAVTPEER | 1 | Mus musculus | W200 | GFNFHWRDWTY | 2 | Homo sapiens, Mus musculus | W200 | KFNYNWKDSGF | 1 | Caenorhabditis elegans | W200 | LFNFHWQDGRY | 1 | Gallus gallus | Y129 | AGAAYYYQRQD | 2 | Homo sapiens, Mus musculus | Y129 | AGAAFYYQPCH | 1 | Caenorhabditis elegans | Y129 | AGAAYYYQRKD | 1 | Gallus gallus | Y205 | WRDWTYRDAVT | 2 | Homo sapiens, Mus musculus | Y205 | WKDSGFRDFGN | 1 | Caenorhabditis elegans | Y205 | WQDGRYRDIIE | 1 | Gallus gallus |
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