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CCBL1 (cysteine conjugate-beta lyase, cytoplasmic)

Identity

Other aliasGTK
KAT1
KATI
HGNC (Hugo) CCBL1
LocusID (NCBI) 883
Atlas_Id 54192
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 131595392 and ends at 131644354 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABL1 (9q34.12) / CCBL1 (9q34.11)C9orf114 (9q34.11) / CCBL1 (9q34.11)CCBL1 (9q34.11) / CCBL1 (9q34.11)
LRRC8A (9q34.11) / CCBL1 (9q34.11)ABL1 9q34.12 / CCBL1 9q34.11LRRC8A 9q34.11 / CCBL1 9q34.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CCBL1   1564
Cards
Entrez_Gene (NCBI)CCBL1  883  cysteine conjugate-beta lyase, cytoplasmic
AliasesGTK; KAT1; KATI
GeneCards (Weizmann)CCBL1
Ensembl hg19 (Hinxton)ENSG00000171097 [Gene_View]  chr9:131595392-131644354 [Contig_View]  CCBL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171097 [Gene_View]  chr9:131595392-131644354 [Contig_View]  CCBL1 [Vega]
ICGC DataPortalENSG00000171097
TCGA cBioPortalCCBL1
AceView (NCBI)CCBL1
Genatlas (Paris)CCBL1
WikiGenes883
SOURCE (Princeton)CCBL1
Genetics Home Reference (NIH)CCBL1
Genomic and cartography
GoldenPath hg19 (UCSC)CCBL1  -     chr9:131595392-131644354 -  9q34.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCBL1  -     9q34.11   [Description]    (hg38-Dec_2013)
EnsemblCCBL1 - 9q34.11 [CytoView hg19]  CCBL1 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBICCBL1 [Mapview hg19]  CCBL1 [Mapview hg38]
OMIM600547   
Gene and transcription
Genbank (Entrez)AK094505 AK291178 AK297995 AK314427 AU123740
RefSeq transcript (Entrez)NM_001122671 NM_001122672 NM_001287390 NM_004059
RefSeq genomic (Entrez)NC_000009 NC_018920 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)CCBL1
Cluster EST : UnigeneHs.495250 [ NCBI ]
CGAP (NCI)Hs.495250
Alternative Splicing GalleryENSG00000171097
Gene ExpressionCCBL1 [ NCBI-GEO ]   CCBL1 [ EBI - ARRAY_EXPRESS ]   CCBL1 [ SEEK ]   CCBL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CCBL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)883
GTEX Portal (Tissue expression)CCBL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16773   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16773  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16773
Splice isoforms : SwissVarQ16773
Catalytic activity : Enzyme2.6.1.7 [ Enzyme-Expasy ]   2.6.1.72.6.1.7 [ IntEnz-EBI ]   2.6.1.7 [ BRENDA ]   2.6.1.7 [ KEGG ]   
PhosPhoSitePlusQ16773
Domains : Interpro (EBI)Aminotransferase_I/II    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2   
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)   
Domain families : Pfam (NCBI)pfam00155   
Conserved Domain (NCBI)CCBL1
DMDM Disease mutations883
Blocks (Seattle)CCBL1
PDB (SRS)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
PDB (PDBSum)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
PDB (IMB)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
PDB (RSDB)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
Structural Biology KnowledgeBase1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
SCOP (Structural Classification of Proteins)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
CATH (Classification of proteins structures)1W7L    1W7M    1W7N    3FVS    3FVU    3FVX    4WLH    4WLJ    4WP0   
SuperfamilyQ16773
Human Protein AtlasENSG00000171097
Peptide AtlasQ16773
HPRD02769
IPIIPI01014100   IPI00181795   IPI00410254   IPI00002523   IPI00640577   IPI00513967   
Protein Interaction databases
DIP (DOE-UCLA)Q16773
IntAct (EBI)Q16773
FunCoupENSG00000171097
BioGRIDCCBL1
STRING (EMBL)CCBL1
ZODIACCCBL1
Ontologies - Pathways
QuickGOQ16773
Ontology : AmiGOprotein binding  nucleoplasm  cytoplasm  cytosol  L-phenylalanine catabolic process  tryptophan catabolic process  cellular modified amino acid metabolic process  transaminase activity  cellular amino acid biosynthetic process  kynurenine-oxoglutarate transaminase activity  kynurenine-oxoglutarate transaminase activity  pyridoxal phosphate binding  protein homodimerization activity  L-phenylalanine:pyruvate aminotransferase activity  glutamine-phenylpyruvate transaminase activity  cysteine-S-conjugate beta-lyase activity  L-glutamine:pyruvate aminotransferase activity  kynurenine metabolic process  L-kynurenine catabolic process  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytoplasm  cytosol  L-phenylalanine catabolic process  tryptophan catabolic process  cellular modified amino acid metabolic process  transaminase activity  cellular amino acid biosynthetic process  kynurenine-oxoglutarate transaminase activity  kynurenine-oxoglutarate transaminase activity  pyridoxal phosphate binding  protein homodimerization activity  L-phenylalanine:pyruvate aminotransferase activity  glutamine-phenylpyruvate transaminase activity  cysteine-S-conjugate beta-lyase activity  L-glutamine:pyruvate aminotransferase activity  kynurenine metabolic process  L-kynurenine catabolic process  
Pathways : KEGGTryptophan metabolism    Selenocompound metabolism    Chemical carcinogenesis   
NDEx NetworkCCBL1
Atlas of Cancer Signalling NetworkCCBL1
Wikipedia pathwaysCCBL1
Orthology - Evolution
OrthoDB883
GeneTree (enSembl)ENSG00000171097
Phylogenetic Trees/Animal Genes : TreeFamCCBL1
HOVERGENQ16773
HOGENOMQ16773
Homologs : HomoloGeneCCBL1
Homology/Alignments : Family Browser (UCSC)CCBL1
Gene fusions - Rearrangements
Fusion : MitelmanABL1/CCBL1 [9q34.12/9q34.11]  [t(9;9)(q34;q34)]  
Fusion : MitelmanC9orf114/CCBL1 [9q34.11/9q34.11]  [t(9;9)(q34;q34)]  
Fusion : MitelmanLRRC8A/CCBL1 [9q34.11/9q34.11]  [t(9;9)(q34;q34)]  
Fusion: TCGAABL1 9q34.12 CCBL1 9q34.11 LUSC
Fusion: TCGALRRC8A 9q34.11 CCBL1 9q34.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCBL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCBL1
dbVarCCBL1
ClinVarCCBL1
1000_GenomesCCBL1 
Exome Variant ServerCCBL1
ExAC (Exome Aggregation Consortium)CCBL1 (select the gene name)
Genetic variants : HAPMAP883
Genomic Variants (DGV)CCBL1 [DGVbeta]
DECIPHER (Syndromes)9:131595392-131644354  ENSG00000171097
CONAN: Copy Number AnalysisCCBL1 
Mutations
ICGC Data PortalCCBL1 
TCGA Data PortalCCBL1 
Broad Tumor PortalCCBL1
OASIS PortalCCBL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCBL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCBL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CCBL1
DgiDB (Drug Gene Interaction Database)CCBL1
DoCM (Curated mutations)CCBL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCBL1 (select a term)
intoGenCCBL1
Cancer3DCCBL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600547   
Orphanet
MedgenCCBL1
Genetic Testing Registry CCBL1
NextProtQ16773 [Medical]
TSGene883
GENETestsCCBL1
Huge Navigator CCBL1 [HugePedia]
snp3D : Map Gene to Disease883
BioCentury BCIQCCBL1
ClinGenCCBL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD883
Chemical/Pharm GKB GenePA26138
Clinical trialCCBL1
Miscellaneous
canSAR (ICR)CCBL1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCBL1
EVEXCCBL1
GoPubMedCCBL1
iHOPCCBL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:58:54 CET 2017

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