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mutLBSgeneDB |
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| Gene summary for CCBL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CCBL1 |
| Gene name | cysteine conjugate-beta lyase, cytoplasmic | |
| Synonyms | GTK|KAT1|KATI | |
| Cytomap | UCSC genome browser: 9q34.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001122671.1, NM_001122672.1,NM_001287390.1,NM_004059.4,NR_109829.1, | |
| Description | beta-lysase, kidneycysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)cysteine-S-conjugate beta-lyaseglutamine transaminase Kglutamine--phenylpyruvate transaminaseglutamine-phenylpyruvate aminotransfera | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 600547 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000171097 | ||
| HPRD : 02769 | ||
| Vega : OTTHUMG00000020767 | ||
| Protein | UniProt: Q16773 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CCBL1 | |
| BioGPS: 883 | ||
| Pathway | NCI Pathway Interaction Database: CCBL1 | |
| KEGG: CCBL1 | ||
| REACTOME: CCBL1 | ||
| Pathway Commons: CCBL1 | ||
| Context | iHOP: CCBL1 | |
| ligand binding site mutation search in PubMed: CCBL1 | ||
| UCL Cancer Institute: CCBL1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0070189 | kynurenine metabolic process | 19338303 |
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| Ligand binding site mutations for CCBL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M59 | D57Y | COAD | 1 | P90 | P90S | SKCM | 1 | Y69 | G68S | SKCM | 1 | G36 | P38S | SKCM | 1 | P90 | L91P | 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 CCBL1 |
| 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 | P90 | L91P | -1.4878903 | Y69 | G68S | -1.368386 | P90 | P90S | -1.3412983 | G36 | P38S | -1.3141397 | M59 | D57Y | -0.6647397 |
| (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 CCBL1 from PDB |
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| Differential gene expression and gene-gene network for CCBL1 |
| 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 CCBL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0022665 | Kidney Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CCBL1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Experimental | DB02142 | Pyridoxamine-5'-Phosphate | Small molecule |  |
| Experimental | DB02556 | D-Phenylalanine | Small molecule |  |
| Experimental | DB04083 | N'-Pyridoxyl-Lysine-5'-Monophosphate | Small molecule |  |
| Experimental | DB07950 | 1H-INDOL-3-YLACETIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CCBL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | DPN | D-PHENYLALANINE RESIDUE | 1w7m | A | G36 | IAC | INDOLE-3-ACETIC ACID | 3fvu | A | G36 | IAC | INDOLE-3-ACETIC ACID | 3fvu | B | G36 | GOL | GLYCEROL | 3fvu | B | M59 Y69 | GOL | GLYCEROL | 3fvu | A | P90 |
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| Conservation information for LBS of CCBL1 |
| Multiple alignments for Q16773 in multiple species |
| LBS | AA sequence | # species | Species |
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