mutLBSgeneDB |
Gene summary for MCAT |
Gene summary |
Basic gene Info. | Gene symbol | MCAT |
Gene name | malonyl CoA:ACP acyltransferase (mitochondrial) | |
Synonyms | FASN2C|MCT|MT|NET62|fabD | |
Cytomap | UCSC genome browser: 22q13.31 | |
Type of gene | protein-coding | |
RefGenes | NM_014507.3, NM_173467.4,NR_046423.1, | |
Description | [Acyl-carrier-protein] malonyltransferasemalonyl-CoA-acyl carrier protein transacylase, mitochondrialmalonyl-CoA:acyl carrier protein transacylase, mitochondrialmitochondrial malonyl CoA:ACP acyltransferasemitochondrial malonyltransferase | |
Modification date | 20141207 | |
dbXrefs | MIM : 614479 | |
HGNC : HGNC | ||
Ensembl : ENSG00000100294 | ||
HPRD : 14786 | ||
Vega : OTTHUMG00000150704 | ||
Protein | UniProt: Q8IVS2 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MCAT | |
BioGPS: 27349 | ||
Pathway | NCI Pathway Interaction Database: MCAT | |
KEGG: MCAT | ||
REACTOME: MCAT | ||
Pathway Commons: MCAT | ||
Context | iHOP: MCAT | |
ligand binding site mutation search in PubMed: MCAT | ||
UCL Cancer Institute: MCAT | ||
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:0006633 | fatty acid biosynthetic process | 12882974 | GO:0008152 | metabolic process | 12882974 |
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Ligand binding site mutations for MCAT |
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 | Y230 | S228C | LUSC | 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 MCAT |
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 | Y230 | S228C | -0.20922811 |
(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 MCAT from PDB |
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Differential gene expression and gene-gene network for MCAT |
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 MCAT |
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 MCAT |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB07344 | 3,6,9,12,15-PENTAOXAHEPTADECAN-1-OL | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of MCAT go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of MCAT |
Multiple alignments for Q8IVS2 in multiple species |
LBS | AA sequence | # species | Species | E327 | SPVKWEQTMHA | 1 | Homo sapiens | E327 | SPVKWEQTMHS | 1 | Mus musculus | E327 | RPVKWEQTLHE | 1 | Drosophila melanogaster | H331 | WEQTMHAIYER | 1 | Homo sapiens | H331 | WEQTMHSIYER | 1 | Mus musculus | H331 | WEQTLHEMYER | 1 | Drosophila melanogaster | Q328 | PVKWEQTMHAI | 1 | Homo sapiens | Q328 | PVKWEQTMHSI | 1 | Mus musculus | Q328 | PVKWEQTLHEM | 1 | Drosophila melanogaster | Y230 | CEVSNYLFPDC | 1 | Homo sapiens | Y230 | CQVSNYLFPDC | 1 | Mus musculus | Y230 | CGIANYMYPHC | 1 | Drosophila melanogaster |
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