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Aliases for CCBL1 Gene

Aliases for CCBL1 Gene

  • Cysteine Conjugate-Beta Lyase, Cytoplasmic 2 3
  • Glutamine Transaminase K 2 3 4
  • Cysteine Conjugate-Beta Lyase; Cytoplasmic (Glutamine Transaminase K, Kyneurenine Aminotransferase) 2 3
  • Kynurenine--Oxoglutarate Transaminase I 3 4
  • Glutamine--Phenylpyruvate Transaminase 3 4
  • Cysteine-S-Conjugate Beta-Lyase 3 4
  • Kynurenine Aminotransferase I 3 4
  • Kyneurenine Aminotransferase 2 3
  • KATI 3 4
  • GTK 3 4
  • Glutamine-Phenylpyruvate Aminotransferase 3
  • Beta-Lysase, Kidney 3
  • EC 4.4.1.13 4
  • EC 2.6.1.64 4
  • EC 2.6.1.7 4
  • KAT1 3

External Ids for CCBL1 Gene

Previous GeneCards Identifiers for CCBL1 Gene

  • GC09M122709
  • GC09M123241
  • GC09M125048
  • GC09M126971
  • GC09M128674
  • GC09M130635
  • GC09M131595
  • GC09M101204

Summaries for CCBL1 Gene

Entrez Gene Summary for CCBL1 Gene

  • 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]

GeneCards Summary for CCBL1 Gene

CCBL1 (Cysteine Conjugate-Beta Lyase, Cytoplasmic) is a Protein Coding gene. Diseases associated with CCBL1 include schizophrenia. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include protein homodimerization activity and lyase activity. An important paralog of this gene is TAT.

UniProtKB/Swiss-Prot for CCBL1 Gene

  • Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond.

Gene Wiki entry for CCBL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCBL1 Gene

Genomics for CCBL1 Gene

Regulatory Elements for CCBL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCBL1 Gene

Chromosome:
9
Start:
128,832,942 bp from pter
End:
128,882,513 bp from pter
Size:
49,572 bases
Orientation:
Minus strand

Genomic View for CCBL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCBL1 Gene

Proteins for CCBL1 Gene

  • Protein details for CCBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16773-KAT1_HUMAN
    Recommended name:
    Kynurenine--oxoglutarate transaminase 1
    Protein Accession:
    Q16773
    Secondary Accessions:
    • Q5T275
    • Q8N191

    Protein attributes for CCBL1 Gene

    Size:
    422 amino acids
    Molecular mass:
    47875 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CCBL1 Gene

    Alternative splice isoforms for CCBL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCBL1 Gene

Proteomics data for CCBL1 Gene at MOPED

Post-translational modifications for CCBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for CCBL1 (Cysteine Conjugate beta-Lyase/CCBL1)

No data available for DME Specific Peptides for CCBL1 Gene

Domains & Families for CCBL1 Gene

Gene Families for CCBL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16773

UniProtKB/Swiss-Prot:

KAT1_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with CCBL1: view

Function for CCBL1 Gene

Molecular function for CCBL1 Gene

GENATLAS Biochemistry:
cysteine conjugate-beta lyase,cytoplasmic,kynurenine aminotransferase
UniProtKB/Swiss-Prot CatalyticActivity:
L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamine + phenylpyruvate = 2-oxoglutaramate + L-phenylalanine.
UniProtKB/Swiss-Prot CatalyticActivity:
An L-cysteine-S-conjugate + H(2)O = RSH + NH(3) + pyruvate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by tryptophan, indole-3-pyruvic acid, 3-indolepropionic acid, DL-indole-3-lactic acid, indole-3-acetic acid (IAC) and Tris.
UniProtKB/Swiss-Prot Function:
Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond.

Enzyme Numbers (IUBMB) for CCBL1 Gene

Gene Ontology (GO) - Molecular Function for CCBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 25416956
GO:0008483 transaminase activity TAS 7883047
GO:0016212 kynurenine-oxoglutarate transaminase activity IDA 19338303
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with CCBL1: view
genes like me logo Genes that share phenotypes with CCBL1: view

Animal Model Products

miRNA for CCBL1 Gene

miRTarBase miRNAs that target CCBL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCBL1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CCBL1 Gene

Localization for CCBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCBL1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCBL1 Gene COMPARTMENTS Subcellular localization image for CCBL1 gene
Compartment Confidence
cytosol 4
nucleus 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CCBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCBL1: view

Pathways & Interactions for CCBL1 Gene

genes like me logo Genes that share pathways with CCBL1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q16773-KAT1_HUMAN

  • Pathway: Amino-acid degradation; L-kynurenine degradation; kynurenate from L-kynurenine: step 1/2

Gene Ontology (GO) - Biological Process for CCBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006569 tryptophan catabolic process TAS --
GO:0006575 cellular modified amino acid metabolic process TAS 7883047
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with CCBL1: view

No data available for SIGNOR curated interactions for CCBL1 Gene

Drugs & Compounds for CCBL1 Gene

(23) Drugs for CCBL1 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
L-Methionine Approved Nutra 0
L-Phenylalanine Approved Nutra 0
Pyruvic acid Approved Nutra 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437

(28) Additional Compounds for CCBL1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Keto-glutaramic acid
  • 2-Keto-glutaramate
  • 2-Oxoglutaramate
  • alpha-Ketoglutaramate
18465-19-5
2-Oxo-4-methylthiobutanoic acid
  • 2-Keto-4-methylthiobutyrate
  • 2-Keto-4-methylthiobutyric acid
  • 2-Ketomethiobutyrate
  • 2-Oxo-4-methylthiobutanoate
  • 2-Oxo-4-methylthiobutanoic acid
583-92-6
4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid
  • 4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoate
  • 4-(2-Amino-3-hydroxyphenyl)-2,4-dioxobutanoic acid
4-(2-Aminophenyl)-2,4-dioxobutanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoate
  • 4-(2-Aminophenyl)-2,4-dioxo-butanoic acid
  • 4-(2-Aminophenyl)-2,4-dioxobutanoate
  • 4-(2-Aminophenyl)-2,4-dioxobutanoic acid
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with CCBL1: view

Transcripts for CCBL1 Gene

Unigene Clusters for CCBL1 Gene

Cysteine conjugate-beta lyase, cytoplasmic:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCBL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCBL1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - -

ExUns: 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CCBL1 Gene

GeneLoc Exon Structure for
CCBL1
ECgene alternative splicing isoforms for
CCBL1

Expression for CCBL1 Gene

mRNA expression in normal human tissues for CCBL1 Gene

Protein differential expression in normal tissues from HIPED for CCBL1 Gene

This gene is overexpressed in Frontal cortex (10.2), Uterus (7.5), and Spinal cord (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCBL1 Gene



SOURCE GeneReport for Unigene cluster for CCBL1 Gene Hs.495250

genes like me logo Genes that share expression patterns with CCBL1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CCBL1 Gene

Orthologs for CCBL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCBL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCBL1 35
  • 87.52 (n)
  • 86.73 (a)
CCBL1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCBL1 35
  • 86.48 (n)
  • 84.43 (a)
CCBL1 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccbl1 35
  • 84.16 (n)
  • 81.95 (a)
Ccbl1 16
Ccbl1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCBL1 35
  • 99.05 (n)
  • 98.58 (a)
CCBL1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccbl1 35
  • 82.21 (n)
  • 79.11 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CCBL1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCBL1 35
  • 67.06 (n)
  • 64.29 (a)
CCBL1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccbl1 35
  • 64.99 (n)
  • 61.96 (a)
Str.5700 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23940 35
zebrafish
(Danio rerio)
Actinopterygii wufd11f02 35
ccbl1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6950 37
  • 47 (a)
CG6950 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F28H6.3 37
  • 39 (a)
nkat-1 36
  • 36 (a)
ManyToMany
nkat-3 36
  • 37 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL170C 35
  • 48.39 (n)
  • 36.56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 36
  • 31 (a)
OneToMany
BNA3 38
rice
(Oryza sativa)
Liliopsida Os10g0484700 35
  • 46.9 (n)
  • 39.89 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9098 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
ManyToMany
CSA.3659 36
  • 44 (a)
ManyToMany
Species with no ortholog for CCBL1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCBL1 Gene

ENSEMBL:
Gene Tree for CCBL1 (if available)
TreeFam:
Gene Tree for CCBL1 (if available)

Paralogs for CCBL1 Gene

Paralogs for CCBL1 Gene

(1) SIMAP similar genes for CCBL1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CCBL1: view

Variants for CCBL1 Gene

Sequence variations from dbSNP and Humsavar for CCBL1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1615 -- 128,844,980(+) TATCT(A/G)ACTCT intron-variant
rs941960 -- 128,878,753(-) TTTGT(C/G)TCACT intron-variant
rs1885638 -- 128,854,293(-) aaatg(C/T)taaaa intron-variant
rs2018156 -- 128,854,445(-) aacac(A/G)agcaa intron-variant
rs2181259 -- 128,877,588(-) CTGGT(C/G)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCBL1 Gene

Variant ID Type Subtype PubMed ID
nsv893901 CNV Loss 21882294
nsv893902 CNV Gain 21882294
dgv8296n71 CNV Loss 21882294
dgv8297n71 CNV Loss 21882294
nsv6724 CNV Insertion 18451855
esv1079251 CNV Deletion 17803354

Variation tolerance for CCBL1 Gene

Residual Variation Intolerance Score: 90.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCBL1 Gene

HapMap Linkage Disequilibrium report
CCBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCBL1 Gene

Disorders for CCBL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCBL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
- elite association
Search CCBL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CCBL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCBL1
genes like me logo Genes that share disorders with CCBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCBL1 Gene

Publications for CCBL1 Gene

  1. Determination of kynurenic acid in human serum and its correlation with the concentration of certain amino acids. (PMID: 17112493) Fukushima T. … Toyo'oka T. (Clin. Chim. Acta 2007) 23 25 26 67
  2. Toxic, halogenated cysteine S-conjugates and targeting of mitochondrial enzymes of energy metabolism. (PMID: 12167474) Cooper A.J. … Anders M.W. (Biochem. Pharmacol. 2002) 23 25 67
  3. Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. (PMID: 7883047) Perry S. … Goldfarb P. (FEBS Lett. 1995) 2 23 67
  4. Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K. (PMID: 19338303) Han Q. … Li J. (J. Med. Chem. 2009) 23 67
  5. Alpha-keto acid metabolites of naturally occurring organoselenium compounds as inhibitors of histone deacetylase in human prostate cancer cells. (PMID: 19584079) Lee J.I. … Pinto J.T. (Cancer Prev Res (Phila) 2009) 23 67

Products for CCBL1 Gene

Sources for CCBL1 Gene

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