mutLBSgeneDB |
Gene summary for MMAA |
Gene summary |
Basic gene Info. | Gene symbol | MMAA |
Gene name | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Synonyms | cblA | |
Cytomap | UCSC genome browser: 4q31.21 | |
Type of gene | protein-coding | |
RefGenes | NM_172250.2, | |
Description | methylmalonic aciduria type A protein, mitochondrial | |
Modification date | 20141219 | |
dbXrefs | MIM : 607481 | |
HGNC : HGNC | ||
Ensembl : ENSG00000151611 | ||
HPRD : 07394 | ||
Vega : OTTHUMG00000161369 | ||
Protein | UniProt: Q8IVH4 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MMAA | |
BioGPS: 166785 | ||
Pathway | NCI Pathway Interaction Database: MMAA | |
KEGG: MMAA | ||
REACTOME: MMAA | ||
Pathway Commons: MMAA | ||
Context | iHOP: MMAA | |
ligand binding site mutation search in PubMed: MMAA | ||
UCL Cancer Institute: MMAA | ||
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 MMAA |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | S328 | R326C | COAD | 3 | D292 | D294N | 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 MMAA |
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 |
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 | D292 | D294N | -1.4618115 | S328 | R326C | -0.60698451 |
(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 MMAA from PDB |
PDB ID | PDB title | PDB structure | 2WWW | Crystal Structure of Methylmalonic Acidemia Type A Protein |
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Differential gene expression and gene-gene network for MMAA |
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 MMAA |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1855109 | Methylmalonic aciduria cblA type | 3 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for MMAA |
Gene-centered drug-gene interaction network |
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 |
Ligands binding to mutated ligand binding site of MMAA go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 2www | A | D292 S328 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2www | B | D292 S328 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2www | C | D292 S328 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2www | D | D292 S328 |
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Conservation information for LBS of MMAA |
Multiple alignments for Q8IVH4 in multiple species |
LBS | AA sequence | # species | Species | A154 | SGPPGAGKSTF | 2 | Homo sapiens, Mus musculus | A154 | SGSPGVGKSSF | 1 | Caenorhabditis elegans | A329 | VIRISARSGEG | 2 | Homo sapiens, Mus musculus | A329 | VMRSSIMDKES | 1 | Caenorhabditis elegans | D292 | AVTKSDGDLIV | 1 | Homo sapiens | D292 | VVTKDDGDLKA | 1 | Caenorhabditis elegans | D292 | VITKSDGDLIV | 1 | Mus musculus | G153 | LSGPPGAGKST | 2 | Homo sapiens, Mus musculus | G153 | ISGSPGVGKSS | 1 | Caenorhabditis elegans | G155 | GPPGAGKSTFI | 2 | Homo sapiens, Mus musculus | G155 | GSPGVGKSSFI | 1 | Caenorhabditis elegans | K156 | PPGAGKSTFIE | 2 | Homo sapiens, Mus musculus | K156 | SPGVGKSSFIE | 1 | Caenorhabditis elegans | K290 | LVAVTKSDGDL | 1 | Homo sapiens | K290 | LLVVTKDDGDL | 1 | Caenorhabditis elegans | K290 | LVVITKSDGDL | 1 | Mus musculus | R330 | IRISARSGEGI | 2 | Homo sapiens, Mus musculus | R330 | MRSSIMDKESV | 1 | Caenorhabditis elegans | S157 | PGAGKSTFIEY | 1 | Homo sapiens | S157 | PGVGKSSFIEA | 1 | Caenorhabditis elegans | S157 | PGAGKSTFIEC | 1 | Mus musculus | S328 | KVIRISARSGE | 2 | Homo sapiens, Mus musculus | S328 | KVMRSSIMDKE | 1 | Caenorhabditis elegans | T158 | GAGKSTFIEYF | 1 | Homo sapiens | T158 | GVGKSSFIEAL | 1 | Caenorhabditis elegans | T158 | GAGKSTFIECF | 1 | Mus musculus |
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