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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
  • Kynurenine--Oxoglutarate Transaminase 1 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 Disease and Metabolism. GO annotations related to this gene include protein homodimerization activity and transaminase 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

Start:
128,832,942 bp from pter
End:
128,882,494 bp from pter
Size:
49,553 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

Other Protein References for CCBL1 Gene

Antibody Products

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

No data available for DME Specific Peptides for CCBL1 Gene

Domains for CCBL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16773

UniProtKB/Swiss-Prot:

KAT1_HUMAN :
  • Q16773
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:0016829 lyase activity --
genes like me logo Genes that share ontologies with CCBL1: view

Phenotypes for CCBL1 Gene

GenomeRNAi human phenotypes for CCBL1:
genes like me logo Genes that share phenotypes with CCBL1: view

Animal Model Products

CRISPR 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 Targeting 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
peroxisome 1

Gene Ontology (GO) - Cellular Components for CCBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CCBL1: view

Pathways 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: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 --
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with CCBL1: view

Compounds for CCBL1 Gene

(7) HMDB Compounds for CCBL1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Keto-glutaramic acid
  • 2-keto-glutaramate
18465-19-5
Kynurenic acid
  • 4-hydroxy-2-Quinolinecarboxylic acid
492-27-3
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9
L-Kynurenine
  • (S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate
343-65-7
L-Phenylalanine
  • (-)-beta-Phenylalanine
63-91-2

(6) Drugbank Compounds for CCBL1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1H-INDOL-3-YLACETIC ACID
target
D-Phenylalanine
673-06-3 target
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate
N'-Pyridoxyl-Lysine-5'-Monophosphate
target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(29) Novoseek inferred chemical compound relationships for CCBL1 Gene

Compound -log(P) Hits PubMed IDs
s-(1,1,2,2-tetrafluoroethyl)-l-cysteine 94.2 7
fluoromethyl 2,2-difluoro-1-(trifluoromethyl)vinyl ether 93.2 1
s-(1,2-dichlorovinyl)-l-cysteine 91 2
dcvg 89.7 1
tetrafluoroethylene 88.6 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with CCBL1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CCBL1 35
  • 99.05 (n)
  • 98.58 (a)
CCBL1 36
  • 81 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia CCBL1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccbl1 35
  • 82.21 (n)
  • 79.11 (a)
chicken
(Gallus gallus)
Aves CCBL1 35
  • 67.06 (n)
  • 64.29 (a)
CCBL1 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23940 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccbl1 35
  • 64.99 (n)
  • 61.96 (a)
Str.5700 35
zebrafish
(Danio rerio)
Actinopterygii ccbl1 36
  • 57 (a)
OneToOne
wufd11f02 35
fruit fly
(Drosophila melanogaster)
Insecta CG6950 36
  • 43 (a)
OneToMany
CG6950 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea nkat-1 36
  • 36 (a)
ManyToMany
nkat-3 36
  • 37 (a)
ManyToMany
F28H6.3 37
  • 39 (a)
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

Selected 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

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

MalaCards: The human disease database. (1) Diseases for CCBL1 Gene including...

Search for CCBL1 Gene in MalaCards »

(2) Novoseek inferred disease relationships for CCBL1 Gene

Disease -log(P) Hits PubMed IDs
toxicity renal 37.7 2
carcinoma renal cell 5.17 1
genes like me logo Genes that share disorders with CCBL1: view

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

Publications for CCBL1 Gene

  1. Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. (PMID: 7883047) Perry S. … Goldfarb P. (FEBS Lett. 1995) 2 3 4 23
  2. Crystal structure of human kynurenine aminotransferase I. (PMID: 15364907) Rossi F. … Rizzi M. (J. Biol. Chem. 2004) 3 4 23
  3. Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K. (PMID: 19338303) Han Q. … Li J. (J. Med. Chem. 2009) 3 4 23
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CCBL1 Gene

Sources for CCBL1 Gene

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