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mutLBSgeneDB |
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| Gene summary for CRAT |
 Gene summary |
| Basic gene Info. | Gene symbol | CRAT |
| Gene name | carnitine O-acetyltransferase | |
| Synonyms | CAT1 | |
| Cytomap | UCSC genome browser: 9q34.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000755.3, NM_001257363.1,NM_004003.2,NM_144782.1, | |
| Description | CATcarnitine acetylasecarnitine acetyltransferase | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 600184 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000095321 | ||
| HPRD : 08971 | ||
| Vega : OTTHUMG00000147343 | ||
| Protein | UniProt: P43155 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRAT | |
| BioGPS: 1384 | ||
| Pathway | NCI Pathway Interaction Database: CRAT | |
| KEGG: CRAT | ||
| REACTOME: CRAT | ||
| Pathway Commons: CRAT | ||
| Context | iHOP: CRAT | |
| ligand binding site mutation search in PubMed: CRAT | ||
| UCL Cancer Institute: CRAT | ||
| 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:0019254 | carnitine metabolic process, CoA-linked | 15099582 |
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| Ligand binding site mutations for CRAT |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W102 | L103F | BRCA | 1 | F566 | M564V | COAD | 1 | T465 | T465A | LUAD | 1 | V569 | V569M | SKCM | 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 CRAT |
| 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 | W102 | L103F | -1.2058653 | T465 | T465A | -1.0583511 | F566 | M564V | -0.65088322 | V569 | V569M | -0.60382607 |
| (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 CRAT from PDB |
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| Differential gene expression and gene-gene network for CRAT |
| 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 CRAT |
| 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 CRAT |
| 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 | DB00583 | L-Carnitine | Small molecule |  |
| Nutraceutical | DB01992 | Coenzyme A | Small molecule |  |
| Experimental | DB02648 | (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CRAT 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 CRAT |
| Multiple alignments for P43155 in multiple species |
| LBS | AA sequence | # species | Species | E347 | EHAAAEGPPIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E347 | EHSKMDGTPTL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F566 | DCVMFFGPVVP | 2 | Homo sapiens, Mus musculus | F566 | FDGYGWSQVND | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F566 | DCVMSFGPVVP | 1 | Rattus norvegicus | H343 | GMVYEHAAAEG | 2 | Mus musculus, Rattus norvegicus | H343 | GLVYEHAAAEG | 1 | Homo sapiens | H343 | GFLAEHSKMDG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S454 | CATYESASLRM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S454 | LPTYEAASTRK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S552 | MHFNLSTSQVP | 2 | Mus musculus, Rattus norvegicus | S552 | MHFHLSTSQVP | 1 | Homo sapiens | S552 | STWLISTSQLS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T465 | FHLGRTDTIRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T465 | YFKGRTETGRS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T553 | HFNLSTSQVPA | 2 | Mus musculus, Rattus norvegicus | T553 | HFHLSTSQVPA | 1 | Homo sapiens | T553 | TWLISTSQLSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V569 | MFFGPVVPDGY | 2 | Homo sapiens, Mus musculus | V569 | YGWSQVNDNGF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V569 | MSFGPVVPDGY | 1 | Rattus norvegicus | W102 | WLSEWWLKTAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W102 | WMAKFWDEQSY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y452 | QACATYESASL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y452 | RQLPTYEAAST | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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