Homo sapiens Gene: CCBL1
Summary
InnateDB Gene IDBG-88752.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCBL1
Gene Name cysteine conjugate-beta lyase, cytoplasmic
Synonyms GTK; KAT1; KATI
Species Homo sapiens
Ensembl Gene ENSG00000171097
Encoded Proteins
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase, cytoplasmic
cysteine conjugate-beta lyase, cytoplasmic
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:128832942-128882494
Strand Reverse strand
Band q34.11
Transcripts
ENST00000302586 ENSP00000302227
ENST00000320665 ENSP00000317342
ENST00000436267 ENSP00000399415
ENST00000451800 ENSP00000390377
ENST00000416084 ENSP00000412402
ENST00000427720 ENSP00000392354
ENST00000462722
ENST00000483599
ENST00000466418
ENST00000474824
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0008483 transaminase activity
GO:0016212 kynurenine-oxoglutarate transaminase activity
GO:0016829 lyase activity
GO:0030170 pyridoxal phosphate binding
GO:0036141 L-phenylalanine-oxaloacetate transaminase activity
GO:0042803 protein homodimerization activity
GO:0047312 L-phenylalanine:pyruvate aminotransferase activity
GO:0047316 glutamine-phenylpyruvate transaminase activity
GO:0047804 cysteine-S-conjugate beta-lyase activity
GO:0047945 L-glutamine:pyruvate aminotransferase activity
Biological Process
GO:0006559 L-phenylalanine catabolic process
GO:0006569 tryptophan catabolic process
GO:0006575 cellular modified amino acid metabolic process
GO:0008652 cellular amino acid biosynthetic process
GO:0009058 biosynthetic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0070189 kynurenine metabolic process
GO:0097053 L-kynurenine catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Tryptophan catabolism pathway
Amino acid synthesis and interconversion (transamination) pathway
Phenylalanine and tyrosine catabolism pathway
Abnormal metabolism in phenylketonuria pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Disease pathway
KEGG
Tryptophan metabolism pathway
Selenocompound metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Q5T276
UniProt Splice Variant
Entrez Gene 883
UniGene Hs.495250
RefSeq NM_001122671 NM_001122672 NM_001287390 NM_004059 XM_006717311
HUGO HGNC:1564
OMIM 600547
CCDS CCDS43884 CCDS48038 CCDS75915
HPRD 02769
IMGT
EMBL AL441992 AL672142
GenPept
RNA Seq Atlas 883