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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCBL1 Gene

protein-coding   GIFtS: 64
GCID: GC09M131595

Cysteine Conjugate-Beta Lyase, Cytoplasmic

(Previous names: cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase...)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cysteine Conjugate-Beta Lyase, Cytoplasmic1 2     KATI2 3
Glutamine Transaminase K1 2 3     KAT12
Cysteine Conjugate-Beta Lyase; Cytoplasmic (Glutamine Transaminase K,
Kyneurenine Aminotransferase)1 2
     Beta-Lysase, Kidney2
Kyneurenine Aminotransferase1 2     Glutamine-Phenylpyruvate Aminotransferase2
Cysteine-S-Conjugate Beta-Lyase2 3     Kynurenine--Oxoglutarate Transaminase 12
Glutamine--Phenylpyruvate Transaminase2 3     EC 2.6.1.643
Kynurenine Aminotransferase I2 3     EC 2.6.1.73
Kynurenine--Oxoglutarate Transaminase I2 3     EC 4.4.1.133
GTK2 3     

External Ids:    HGNC: 15641   Entrez Gene: 8832   Ensembl: ENSG000001710977   OMIM: 6005475   UniProtKB: Q167733   

Export aliases for CCBL1 gene to outside databases

Previous GC identifers: GC09M122709 GC09M123241 GC09M125048 GC09M126971 GC09M128674 GC09M130635 GC09M101204


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and phenylketonuria, and among its related super-pathways are Metabolic pathways and Metabolism of xenobiotics by cytochrome P450. GO annotations related to this gene include transaminase activity and protein homodimerization activity. An important paralog of this gene is CCBL2.

UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
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

Gene Wiki entry for CCBL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCBL1 gene promoter:
         COUP-TF1   AML1a   MAZR   COUP   HNF-4alpha2   AP-4   HNF-4alpha1   Arnt   COUP-TF   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCBL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCBL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCBL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

CCBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCBL1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M131595:  view genomic region     (about GC identifiers)

Start:
131,595,221 bp from pter      End:
131,644,773 bp from pter
Size:
49,553 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773 (See protein sequence)
Recommended Name: Kynurenine--oxoglutarate transaminase 1  
Size: 422 amino acids; 47875 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: Cytoplasm
6 PDB 3D structures from and Proteopedia for CCBL1:
1W7L (3D)        1W7M (3D)        1W7N (3D)        3FVS (3D)        3FVU (3D)        3FVX (3D)    
Secondary accessions: Q5T275 Q8N191
Alternative splicing: 3 isoforms:  Q16773-1   Q16773-2   Q16773-3   

Explore the universe of human proteins at neXtProt for CCBL1: NX_Q16773

Explore proteomics data for CCBL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16773

  • CCBL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCBL1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001116143.1  NP_001116144.1  NP_004050.3  

    ENSEMBL proteins: 
     ENSP00000302227   ENSP00000317342   ENSP00000390377   ENSP00000412402   ENSP00000392354  
     ENSP00000399415  
    Reactome Protein details: Q16773
    Human Recombinant Protein Products for CCBL1: 
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    Novus Biologicals CCBL1 Proteins
    Novus Biologicals CCBL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    CCBL1 for ontologies           About GeneDecksing



    CCBL1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Cysteine:2-oxoglutarate aminotransferase 
    Hydrogen sulphide synthesis

    4 InterPro protein domains:
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q16773

    ProtoNet protein and cluster: Q16773

    1 Blocks protein domain: IPB004839 Aminotransferase

    UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    CCBL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAT1_HUMAN, Q16773
    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
    Catalytic activity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
    Catalytic activity: L-glutamine + phenylpyruvate = 2-oxoglutaramate + L-phenylalanine
    Catalytic activity: RS-CH(2)-CH(NH(3)(+))COO(-) + H(2)O = RSH + NH(3) + pyruvate
    Enzyme regulation: Inhibited by tryptophan, indole-3-pyruvic acid, 3-indolepropionic acid, DL-indole-3-lactic
    acid, indole-3-acetic acid (IAC) and Tris

         Genatlas biochemistry entry for CCBL1:
    cysteine conjugate-beta lyase,cytoplasmic,kynurenine aminotransferase

         Enzyme Numbers (IUBMB): EC 4.4.1.131 EC 2.6.1.641 EC 2.6.1.71

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008483transaminase activity TAS7883047
    GO:0016212kynurenine-oxoglutarate transaminase activity IDA19338303
    GO:0016829lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    CCBL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CCBL1:
     Increased cell number in S 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCBL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCBL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCBL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCBL1 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCBL1:
    hsa-miR-486-3p
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CCBL1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Drug metabolism - cytochrome P450
    Chemical carcinogenesis0.77
    3tyrosine degradation I
    Phenylalanine and tyrosine catabolism0.56
    4Tryptophan metabolism
    Tryptophan metabolism0.46
    5tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    Tryptophan catabolism0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/7        Reactome Pathways for CCBL1 (see all 7)
        Tryptophan catabolism
    Phenylalanine and tyrosine catabolism
    Metabolism
    Abnormal metabolism in phenylketonuria
    Amino acid synthesis and interconversion (transamination)


    4         Kegg Pathways  (Kegg details for CCBL1):
        Tryptophan metabolism
    Selenocompound metabolism
    Metabolic pathways
    Chemical carcinogenesis

    UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
    Pathway: Amino-acid degradation; L-kynurenine degradation; kynurenate from L-kynurenine: step 1/2


    CCBL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/23 Interacting proteins for CCBL1 (Q167733 ENSP000003022274) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERCC3P194473, ENSP000002853984I2D: score=1 STRING: ENSP00000285398
    COX10Q128873, ENSP000002616434I2D: score=1 STRING: ENSP00000261643
    ISYNA1Q9NPH23I2D: score=4 
    SEPT7Q161813I2D: score=4 
    HSP90AA1P079003I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006569tryptophan catabolic process TAS--
    GO:0006575cellular modified amino acid metabolic process TAS7883047
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0009058biosynthetic process ----

    CCBL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CCBL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CCBL1 (KAT1)

    7 HMDB Compounds for CCBL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Keto-glutaramic acid2-keto-glutaramate (see all 3)18465-19-5--
    Kynurenic acid4-hydroxy-2-Quinolinecarboxylic acid (see all 13)492-27-3--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    L-Kynurenine(S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate (see all 15)343-65-7--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    Phenylpyruvic acid2-Oxo-3-phenylpropanoate (see all 16)156-06-9--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    6 DrugBank Compounds for CCBL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12167474 12850267 16846239 12798391 16463021
    D-Phenylalanine-- 673-06-3target--17139284 17016423
    N'-Pyridoxyl-Lysine-5'-Monophosphate-- --target--17139284 17016423
    Pyridoxamine-5'-Phosphate-- --target--17139284 17016423
    1H-INDOL-3-YLACETIC ACID-- --target--10592235
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17112493

    10/29 Novoseek inferred chemical compound relationships for CCBL1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-(1,1,2,2-tetrafluoroethyl)-l-cysteine 94.2 9 10535746 (3), 12167474 (1), 12700887 (1), 12022883 (1) (see all 5)
    fluoromethyl 2,2-difluoro-1-(trifluoromethyl)vinyl ether 93.2 1 9523802 (1)
    s-(1,2-dichlorovinyl)-l-cysteine 91 2 10696794 (1), 12859250 (1)
    dcvg 89.7 1 8975632 (1)
    tetrafluoroethylene 88.6 1 15554237 (1)
    kynurenine 86.1 36 8350986 (5), 16008534 (1), 15880762 (1), 17112493 (1) (see all 13)
    hcbd 84.3 1 15554237 (1)
    kynurenic acid 83.1 12 15880762 (1), 17112493 (1), 17364732 (1), 10226937 (1) (see all 7)
    aminooxyacetic acid 78.9 1 10696794 (1)
    cysteine 73.7 49 7883047 (5), 2139845 (2), 8968194 (2), 9523802 (2) (see all 34)

    Search CenterWatch for drugs/clinical trials and news about CCBL1 / KAT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for CCBL1 gene (3 alternative transcripts): 
    NM_001122671.1  NM_001122672.1  NM_004059.4  

    Unigene Cluster for CCBL1:

    Cysteine conjugate-beta lyase, cytoplasmic
    Hs.495250  [show with all ESTs]
    Unigene Representative Sequence: AK094505
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462722(uc004bwi.3) ENST00000302586(uc004bwh.3 uc010myn.3 uc004bwj.3)
    ENST00000320665 ENST00000483599(uc004bwg.3) ENST00000466418 ENST00000451800
    ENST00000416084 ENST00000474824 ENST00000427720 ENST00000436267(uc011mbl.2)


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    Additional mRNA sequence: 

    AK094505.1 AK291178.1 AK297995.1 AK314427.1 BC033685.1 X82224.1 

    12 DOTS entries:

    DT.100782734  DT.100782727  DT.100782730  DT.95155580  DT.121146448  DT.86856182  DT.95083635  DT.100770096 
    DT.40232862  DT.40304711  DT.86846929  DT.91676190 

    24/294 AceView cDNA sequences (see all 294):

    BM692880 AA557314 AW592713 CR619510 BC046133 BI755163 BM759782 AA336405 
    CR606096 BU730236 CR623306 BU622726 W74137 CA430474 CB243913 AW297031 
    CD370333 CR606465 BM759799 BM759913 AU123740 CR616507 CB215391 BC010579 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CCBL1 (see all 8)    About this scheme

    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:                                -     -     -                 -     -                                   -                                                   

    ExUns: 18c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CCBL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCBL1 expression in normal human tissues (normalized intensities)      CCBL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCTGCTA
    CCBL1 Expression
    About this image


    CCBL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             limb/hindlimb   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi

    See CCBL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCBL1

    SOURCE GeneReport for Unigene cluster: Hs.495250
        SABiosciences Expression via Pathway-Focused PCR Array including CCBL1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCBL1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccbl11 , 5 cysteine conjugate-beta lyase 11, 5 84.16(n)1
    81.95(a)1
      2 (21.31 cM)5
    702661  NM_172404.21  NP_765992.21 
     301851245 
    chicken
    (Gallus gallus)
    Aves CCBL11 cysteine conjugate-beta lyase, cytoplasmic 67.06(n)
    64.05(a)
      417202  XM_415485.3  XP_415485.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239402 Xenopus laevis transcribed sequence with weak similarity more 77.02(n)    BX851552.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd11f022 Danio rerio cDNA clone MGC63644 IMAGE5605137, complete more 71.81(n)    BC055182.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69503 kynurenine-oxoglutarate
    aminotransferase
    47(a)   86F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea F28H6.33 Aminotransferases class-I 39(a)   X(14173325-14175295)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BNA3(YJL060W)4 Kynurenine aminotransferase, catalyzes formation of more   --   10(323386-324720) 853386  NP_012475.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g04847001 hypothetical protein 46.9(n)
    39.62(a)
      4348936  NM_001071425.1  NP_001064890.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCBL1 gene
    CCBL22  TAT2  
    1 SIMAP similar gene for CCBL1 using alignment to 8 protein entries:     KAT1_HUMAN (see all proteins):
    CCBL2

    CCBL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1156 SNPs in CCBL1 are shown (see all 1156)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424413751,2
    --131594945(+) CGAGGC/TGAGCA 3 -- ds50010--------
    rs1806836951,2
    --131594979(+) AGTCCA/GGCCCA 3 -- ds50010--------
    rs1468531001,2
    C--131595018(+) AAAACA/TCAAAA 3 -- ds50010--------
    rs29979041,2
    C,F,A,H--131595035(-) CACCAT/CGCCCG 3 -- ds50015Minor allele frequency- C:0.30NA 10
    rs1446814671,2
    C--131595177(+) TCAAA-/AACAAC
    AACAACAAC
    AACAA
    3 -- ds50010--------
    rs570737471,2
    C--131595217(+) AACAA-/CAA/CAACA
    A
    /CAACAACAA
    AGATT
    9 -- cds11NA 2
    rs1849496111,2
    --131595252(+) CCTTGA/GGTGCT 3 -- ds50010--------
    rs1467103491,2
    --131595279(+) CTATGC/TGACTA 3 -- ds50010--------
    rs1902466041,2
    --131595386(+) GAAGCC/TGTCAA 3 -- ds50010--------
    rs109881341,2
    C,F,H--131595407(+) AATAAC/TTTAAA 3 -- ut3119Minor allele frequency- T:0.38NS EA NA MN WA 2526

    HapMap Linkage Disequilibrium report for CCBL1 (131595221 - 131644773 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CCBL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1079251CNV Deletion17803354
    nsv6724CNV Insertion18451855
    nsv893901CNV Loss21882294
    dgv8297n71CNV Loss21882294
    dgv8296n71CNV Loss21882294
    nsv893902CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600547    OMIM disorders: --

    10 diseases for CCBL1:    About MalaCards
    schizophrenia    phenylketonuria    cataract    multiple sclerosis
    ischemia    tuberculosis    cerebritis    alzheimer's disease
    prostatitis    neuronitis


    CCBL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for CCBL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    toxicity renal 37.7 2 12750429 (1), 11772127 (1)
    carcinoma renal cell 5.17 1 7767899 (1)


    Export disorders for CCBL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CCBL1 gene, integrated from 9 sources (see all 89):
    (articles sorted by number of sources associating them with CCBL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. (PubMed id 7883047)1, 2, 3, 9 Perry S....Goldfarb P. (1995)
    2. Crystal structure of human kynurenine aminotransferase I. (PubMed id 15364907)1, 2, 9 Rossi F....Rizzi M. (2004)
    3. Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K. (PubMed id 19338303)1, 2, 9 Han Q.... Li J. (2009)
    4. Cysteine S-conjugate beta-lyases. (PubMed id 16463021)1, 7 Cooper A.J. and Pinto J.T. (2006)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase. (PubMed id 18342615)1, 9 Cooper A.J....Spencer J.P. (2008)
    8. Toxic, halogenated cysteine S-conjugates and targeting of mitochondrial enzymes of energy metabolism. (PubMed id 12167474)7, 9 Cooper A.J....Anders M.W. (2002)
    9. Cysteine conjugate beta-lyase-dependent biotransformation of the cysteine S-conjugates of the sevoflurane degradation product compound A in human, nonhuman primate, and rat kidney cytosol and mitochondria. (PubMed id 8968194)1, 9 Iyer R.A. and Anders M.W. (1996)
    10. Purification and characterization of human kidney cytosolic cysteine conjugate beta-lyase activity. (PubMed id 2139845)1, 9 Lash L.H....Anders M.W. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 883 HGNC: 1564 AceView: CCBL1andC9orf114 Ensembl:ENSG00000171097 euGenes: HUgn883
    ECgene: CCBL1 Kegg: 883 H-InvDB: CCBL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCBL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CCBL1 gene:
    Search GeneIP for patents involving CCBL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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