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CTRB1 Gene

protein-coding   GIFtS: 60
GCID: GC16P075252

Chymotrypsinogen B1


(Previous symbol: CTRB)
  See CTRB1-related diseases
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
Chymotrypsinogen B11 2
CTRB1 2 3
EC 3.4.21.13 8
Chymotrypsinogen B2
EC 3.4.218

External Ids:    HGNC: 25211   Entrez Gene: 15042   Ensembl: ENSG000001689257   OMIM: 1188905   UniProtKB: P175383   

Export aliases for CTRB1 gene to outside databases

Previous GC identifers: GC16M066168 GC16P076213 GC16P074991 GC16P075032 GC16P075003 GC16P073810 GC16P061006


(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 CTRB1 Gene:
The protein encoded by this gene is one of a family of serine proteases that is secreted into the gastrointestinal
tract as an inactive precursor, which is activated by proteolytic cleavage with trypsin. (provided by RefSeq, Oct
2011)

GeneCards Summary for CTRB1 Gene:
CTRB1 (chymotrypsinogen B1) is a protein-coding gene. Diseases associated with CTRB1 include hepatoerythropoietic porphyria, and methylmalonic aciduria and homocystinuria type cblg. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CELA1.




(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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTRB1 gene promoter:
         NF-1   GATA-3   Tal-1beta   SREBP-1b   GATA-2   GATA-1   PPAR-gamma1   SREBP-1a   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTRB1 promoter sequence
   Search Chromatin IP Primers for CTRB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTRB1


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

Entrez Gene cytogenetic band: 16q23.1   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q23.1

CTRB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTRB1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P075252:  view genomic region     (about GC identifiers)

Start:
75,252,884 bp from pter      End:
75,258,822 bp from pter
Size:
5,939 bases      Orientation:
plus 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: CTRB1_HUMAN, P17538 (See protein sequence)
Recommended Name: Chymotrypsinogen B precursor  
Size: 263 amino acids; 27870 Da

Explore the universe of human proteins at neXtProt for CTRB1: NX_P17538

Explore proteomics data for CTRB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTRB1 (P17538) (see all 10)
     SGGPLVC  GDSGGPL  FCGGSLI  WPWQVSL 


    See CTRB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001897.4  
    ENSEMBL proteins: 
     ENSP00000354294   ENSP00000463301  
    Reactome Protein details: P17538

    CTRB1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for CTRB1
    OriGene Protein Over-expression Lysate for CTRB1
    OriGene MassSpec for CTRB1
    OriGene Custom Protein Services for CTRB1
    GenScript Custom Purified and Recombinant Proteins Services for CTRB1
    Novus Biologicals CTRB1 Proteins
    Novus Biologicals CTRB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTRB1

     
    Search eBioscience for Proteins for CTRB1 

    CTRB1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    OriGene Custom Antibody Services for CTRB1
    Novus Biologicals CTRB1 Antibodies
    Abcam antibodies for CTRB1
    Cloud-Clone Corp. Antibodies for CTRB1
    Search ThermoFisher Antibodies for CTRB1
    LSBio Antibodies in human, mouse, rat for CTRB1

    CTRB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CTRB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CTRB1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CTRB1
    Cloud-Clone Corp. CLIAs for CTRB1
    Search eBioscience for ELISAs for CTRB1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P17538

    ProtoNet protein and cluster: P17538

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: CTRB1_HUMAN, P17538
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with CTRB1           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: CTRB1_HUMAN, P17538
    Catalytic activity: Preferential cleavage: Tyr- -Xaa, Trp- -Xaa, Phe- -Xaa, Leu- -Xaa

         Genatlas biochemistry entry for CTRB1:
    chymotrypsinogen B1

         Enzyme Numbers (IUBMB): EC 3.4.21.11 2 EC 3.4.212

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS2917002
         
    Find genes that share ontologies with CTRB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTRB1:
     Decreased Hepatitis C virus re 

         1 MGI phenotypic allele for Ctrb1 (no phenotypes)

    Find genes that share phenotypes with CTRB1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CTRB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CTRB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTRB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTRB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTRB1:
    hsa-mir-335-5p (MIRT017949)

    Block miRNA regulation of human, mouse, rat CTRB1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CTRB1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CTRB1
    Predesigned siRNA for gene silencing in human, mouse, rat CTRB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTRB1

    Clone
    Products:
         
    OriGene clones in human, mouse for CTRB1 (see all 5)
    OriGene ORF clones in mouse, rat for CTRB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTRB1 (NM_001906)
    Sino Biological Human cDNA Clone for CTRB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTRB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTRB1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CTRB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CTRB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTRB1


    (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
    CTRB1_HUMAN, P17538: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--

    Find genes that share ontologies with CTRB1           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 CTRB1 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    3Metabolism
    Metabolism0.38
    4Matrix Metalloproteinases
    Activation of Matrix Metalloproteinases0.37
    5Protein digestion and absorption
    Protein digestion and absorption


    Find genes that share SuperPaths with CTRB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for CTRB1
        Cobalamin (Cbl, vitamin B12) transport and metabolism
    Activation of Matrix Metalloproteinases


    2 Kegg Pathways  (Kegg details for CTRB1):
        Pancreatic secretion
    Protein digestion and absorption

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTRB1
    Interactions:

        Search GeneGlobe Interaction Network for CTRB1

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

    Selected Interacting proteins for CTRB1 (P175383 ENSP000003542944) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673I2D: score=1 
    RIPK1Q135463I2D: score=1 
    LYPD3ENSP000002443334STRING: ENSP00000244333
    SERPINA1ENSP000003480684STRING: ENSP00000348068
    SERPINF2ENSP000003218534STRING: ENSP00000321853
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0007586digestion IEA--
    GO:0009235cobalamin metabolic process TAS--

    Find genes that share ontologies with CTRB1           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 CTRB1

    Selected DrugBank Compounds for CTRB1 (see all 16)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phenylethane Boronic Acid-- 34420-17-2target--17139284 17016423 10592235
    Phosphorylisopropane-- --target--17139284 17016423 10592235
    (2S) N-ACETYL-L-ALANYL-ALPHAL-PHENYLALANYL-CHLOROETHYLKETONE-- --target--10592235
    1,1,1-TRIFLUORO-3-((N-ACETYL)-L-LEUCYLAMIDO)-4-PHENYL-BUTAN-2-ONE(N-ACETYL-L-LEUCYL-L-PHENYLALANYL TRIFLUOROMETHYL KETONE)-- --target--10592235
    1,1,1-TRIFLUORO-3-ACETAMIDO-4-PHENYL BUTAN-2-ONE(N-ACETYL-L-PHENYLALANYL TRIFLUOROMETHYL KETONE)-- --target--10592235
    2,4-Dihydroxy-Trans Cinnamic Acid-- 614-86-8target--10592235
    2-ACETYLAMINO-4-METHYL-PENTANOIC ACID (1-FORMYL-2-PHENYL-ETHYL)-AMIDE-- --target--10592235
    3-(4-DIETHYLAMINO-2-HYDROXY-PHENYL)-2-METHYL-PROPIONIC ACID-- --target--10592235
    AprotininBayer A 128 (see all 5)9087-70-1target--15277296
    D-1-(4-CHLOROPHENYL)-2-(ACETAMIDO)ETHANE BORONIC ACID-- --target--10592235



    (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 CTRB1 gene: 
    NM_001906.4  

    Unigene Cluster for CTRB1:

    Chymotrypsinogen B1
    Hs.610926  [show with all ESTs]
    Unigene Representative Sequence: AK124403
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361017(uc002fds.3) ENST00000495583
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CTRB1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CTRB1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CTRB1
    Predesigned siRNA for gene silencing in human, mouse, rat CTRB1
    Clone
    Products:
         
    OriGene clones in human, mouse for CTRB1 (see all 5)
    OriGene ORF clones in mouse, rat for CTRB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTRB1 (NM_001906)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTRB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTRB1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CTRB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CTRB1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CTRB1
      QuantiTect SYBR Green Assays in human, mouse, rat CTRB1
      QuantiFast Probe-based Assays in human, mouse, rat CTRB1

    Additional mRNA sequence: 

    AK124403.1 BC005385.1 BT007356.1 M24400.1 

    17 DOTS entries:

    DT.99939380  DT.92421819  DT.450700  DT.120666788  DT.120666798  DT.120699706  DT.95356652  DT.100820247 
    DT.100820254  DT.120666789  DT.120699694  DT.100820255  DT.120666783  DT.120666805  DT.120699689  DT.120699704 
    DT.40221398 

    Selected AceView cDNA sequences (see all 154):

    BM918560 BM505105 AA366236 BQ477380 AA366672 BU948857 BI962823 BM273014 
    BP340253 AW583692 AA367430 BU785147 BM918884 BM352958 BI769990 AA366241 
    AA367006 BM127922 AA363464 AA366633 BQ631995 BM353952 AA366481 AA366898 

    GeneLoc Exon Structure


    (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)
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    CTRB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CTRB1 Expression
    About this image


    CTRB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CTRB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTRB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.610926
        Custom PCR Arrays for CTRB1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CTRB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CTRB1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CTRB1
    QuantiTect SYBR Green Assays in human, mouse, rat CTRB1
    QuantiFast Probe-based Assays in human, mouse, rat CTRB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTRB1

    (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 animals.

    Orthologs for CTRB1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctrb15 chymotrypsinogen B1   --   8 (57.98 cM) 111686510 
    chicken
    (Gallus gallus)
    Aves --
    Gallus gallus chymotrypsinogen 2-like (LOC431235),...
    70(a)
    1 → many
    11(1959124-1960900)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    46(a)
    many ↔ many
    GL343969.1(7108-9741)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644172 Chymotrypsinogen 2 70.96(n)    BC056849.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb61f072 Danio rerio chymotrypsinogen 2, mRNA (cDNA clone MGC66266 more 74.98(n)    BC055574.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118363
    CG317281
    serine-type endopeptidase3
    CG317281
    40(a)
    (best of 6)3
    51.72(n)1
    40.95(a)1
      96B203
    347311  NM_165031.31  NP_723797.31 


    ENSEMBL Gene Tree for CTRB1 (if available)
    TreeFam Gene Tree for CTRB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CTRB1 gene
    CELA12  CELA3A2  CTRL2  CELA2B2  CTRC2  CELA2A2  CTRB22  CELA3B2  
    Selected SIMAP similar genes for CTRB1 using alignment to 2 protein entries:     CTRB1_HUMAN (see all proteins) (see all similar genes):
    CTRB2    CTRL    FLJ00366    CELA2B    PRSS1    TMPRSS3
    TMPRSS5    CELA2A    CTRC    ELA2A    CELA1    CELA3B
    TMPRSS11D    TMPRSS9    serase-1B    HPN    PRSS2    DF

    Find genes that share paralogs with CTRB1           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 CTRB1 (see all 285)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454545731,2
    --75250896(+) TTGGAC/GATCAT 1 -- us2k10--------
    rs1905116691,2
    --75250934(+) CTACTA/GAAAAT 1 -- us2k10--------
    rs1829896951,2
    --75251044(+) GTGAGC/GTGAGG 1 -- us2k10--------
    rs1862105841,2
    --75251059(+) ACCCCC/TGCACT 1 -- us2k10--------
    rs572918211,2
    C--75251098(+) TCTCA-/GGGGAA 1 -- us2k12Minor allele frequency- G:0.25NA CSA 4
    rs99236581,2
    C--75251101(+) CAGGGA/GAAAAA 1 -- us2k1 trp30--------
    rs99236601,2
    C--75251107(+) aaaaaA/Gaaaaa 1 -- us2k1 trp30--------
    rs1922878461,2
    C--75251113(+) AAAAAA/GAAAGG 1 -- us2k10--------
    rs1402584621,2
    C--75251181(+) CTTTAC/TAGTTG 1 -- us2k10--------
    rs8895151,2
    C,F,O,H--75251299(+) CACTGC/TGTCTT 1 -- us2k128Minor allele frequency- T:0.06NA EA NS WA CSA 2305

    HapMap Linkage Disequilibrium report for CTRB1 (75252884 - 75258822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CTRB1 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668023CNV Deletion23128226
    nsv523405CNV Loss19592680
    dgv2912n71CNV Loss21882294
    nsv906911CNV Loss21882294
    nsv482198CNV Gain20164927
    nsv833282CNV Gain+Loss17160897
    nsv516504CNV Gain+Loss19592680
    esv2504659OTHER Inversion19546169
    dgv20n50OTHER Inversion21212237
    dgv51n16OTHER Inversion17901297

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118890    OMIM disorders: --

    5 diseases for CTRB1:    
    About MalaCards
    hepatoerythropoietic porphyria    methylmalonic aciduria and homocystinuria type cblg    methylmalonic aciduria and homocystinuria type cble    intrinsic factor deficiency
    methylmalonic aciduria and homocystinuria type cblc

    1 disease from the University of Copenhagen DISEASES database for CTRB1:
    Hepatoerythropoietic porphyria

    Find genes that share disorders with CTRB1           About GenesLikeMe

    Genetic Association Database (GAD): CTRB1
    Human Genome Epidemiology (HuGE) Navigator: CTRB1 (1 document)

    Export disorders for CTRB1 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 CTRB1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with CTRB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and nucleotide sequence of human pancreatic prechymotrypsinogen cDNA. (PubMed id 2917002)1, 2, 3 Tomita N.... Matsubara K. (Biochem. Biophys. Res. Commun. 1989)
    2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    3. 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)
    4. Genomic cloning and partial characterization of human chymotrypsinogen gene. (PubMed id 8186414)1, 3 Hou D.X....Soeda E. (Jpn. J. Hum. Genet. 1993)
    5. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)
    6. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (Nat Rev Drug Discov 2006)
    7. Structural analysis and tissue localization of human C4.4A: a protein homologue of the urokinase receptor. (PubMed id 15012588)1 Hansen L.V.... Ploug M. (Biochem. Eng. J. 2004)
    8. Perioperative systemic haemostatic agents. (PubMed id 15277296)7 Mahdy A.M. and Webster N.R. (Br J Anaesth 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 1504 HGNC: 2521 AceView: CTRB1 Ensembl:ENSG00000168925 euGenes: HUgn1504
    ECgene: CTRB1 Kegg: 1504 H-InvDB: CTRB1

    (According to HUGE)
    About This Section

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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 CTRB1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Chymotrypsin

    (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 CTRB1 gene:
    Search GeneIP for patents involving CTRB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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