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CCBL1 Gene

protein-coding   GIFtS: 64
GCID: GC09M131595

Cysteine Conjugate-Beta Lyase, Cytoplasmic

(Previous names: cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase...)
  See CCBL1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for CCBL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCBL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001116143.1  NP_001116144.1  NP_001274319.1  NP_004050.3  

    ENSEMBL proteins: 
     ENSP00000302227   ENSP00000317342   ENSP00000390377   ENSP00000412402   ENSP00000392354  
     ENSP00000399415  
    Reactome Protein details: Q16773

    CCBL1 Human Recombinant Protein Products:

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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.

     
    Search eBioscience for Proteins for CCBL1 

    CCBL1 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with CCBL1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with CCBL1           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCBL1
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       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

    miRNA
    Products:
        
    miRTarBase miRNAs that target CCBL1:
    hsa-mir-193b-3p (MIRT041469)

    Block miRNA regulation of human, mouse, rat CCBL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CCBL1:
    hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidCCBL1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CCBL1

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    GenScript: all cDNA clones in your preferred vector (see all 3): CCBL1 (NM_004059)
    Sino Biological Human cDNA Clone for CCBL1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCBL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KAT1_HUMAN, Q16773: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with CCBL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CCBL1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    Phenylalanine and tyrosine catabolism0.00
    tryptophan degradation via kynurenine0.00
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan catabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Chemical carcinogenesis
    Chemical carcinogenesis0.71
    5Selenocompound metabolism
    Selenocompound metabolism


    Find genes that share SuperPaths with CCBL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CCBL1
        tryptophan degradation via kynurenine


    4 Reactome Pathways for CCBL1
        Tryptophan catabolism
    Phenylalanine and tyrosine catabolism
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CCBL1: 

              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CCBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CCBL1 (Q167733 ENSP000003022274) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT7Q161813, ENSP000003819924I2D: score=4 STRING: ENSP00000381992
    ISYNA1Q9NPH23I2D: score=4 
    HSP90AA1P079003I2D: score=2 
    ACOX1Q150673I2D: score=1 
    ATICP319393I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with CCBL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    Find genes that share compounds with CCBL1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCBL1 gene (4 alternative transcripts): 
    NM_001122671.1  NM_001122672.1  NM_001287390.1  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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    hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidCCBL1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): CCBL1 (NM_004059)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCBL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCBL1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCBL1
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      QuantiTect SYBR Green Assays in human, mouse, rat CCBL1
      QuantiFast Probe-based Assays in human, mouse, rat CCBL1

    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 

    Selected AceView cDNA sequences (see all 294):

    BG576340 AW592713 BU616618 BM692880 BX280708 BI755163 CD370333 BX397368 
    BC046133 BU730236 AA557314 BM832951 CR619510 AA187874 CA430474 AA609620 
    BC033685 CR623306 AW297031 CB243913 BQ067568 CR606096 BF526849 CR599269 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CCBL1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Bone (Muscoskeletal System)
             Bone Marrow
    CCBL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCBL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495250
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CCBL1 gene from Selected 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)
    64.29(a)
      417202  XM_004945857.1  XP_004945914.1 
    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 Os10g0484700 46.9(n)
    39.89(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)
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    Paralogs for CCBL1 gene
    CCBL22  TAT2  
    1 SIMAP similar gene for CCBL1 using alignment to 8 protein entries:     KAT1_HUMAN (see all proteins):
    CCBL2

    Find genes that share paralogs with CCBL1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CCBL1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCBL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CCBL1

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

    1 disease for CCBL1:    
    About MalaCards
    schizophrenia


    Find genes that share disorders with CCBL1           About GenesLikeMe

    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)
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    PubMed articles for CCBL1 gene, integrated from 10 sources (see all 90):
    (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. (FEBS Lett. 1995)
    2. Crystal structure of human kynurenine aminotransferase I. (PubMed id 15364907)1, 2, 9 Rossi F.... Rizzi M. (J. Biol. Chem. 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. (J. Med. Chem. 2009)
    4. Cysteine S-conjugate beta-lyases. (PubMed id 16463021)1, 7 Cooper A.J. and Pinto J.T. (Amino Acids 2006)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 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. (Genome Res. 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. (Arch. Biochem. Biophys. 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. (Biochem. Pharmacol. 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. (Anesthesiology 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. (Drug Metab. Dispos. 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 883 HGNC: 1564 AceView: CCBL1andC9orf114 Ensembl:ENSG00000171097 euGenes: HUgn883
    ECgene: CCBL1 Kegg: 883 H-InvDB: CCBL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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