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CPT1B Gene

protein-coding   GIFtS: 64
GCID: GC22M051008

Carnitine Palmitoyltransferase 1B (Muscle)

  See 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
Carnitine Palmitoyltransferase 1B (Muscle)1 2     MCPT12
Carnitine Palmitoyltransferase I-Like Protein2 3     Carnitine O-Palmitoyltransferase 1, Muscle Isoform2
CPT1-M2 3     Carnitine O-Palmitoyltransferase I, Mitochondrial Muscle Isoform2
CPTI-M2 3     KIAA16703
EC 2.3.1.213 8     Carnitine O-Palmitoyltransferase I, Muscle Isoform3
CPT1M2     Carnitine Palmitoyltransferase 1B3
CPTI2     CPT I3
M-CPT12     EC 2.3.18
MCCPT12     

External Ids:    HGNC: 23291   Entrez Gene: 13752   Ensembl: ENSG000002055607   OMIM: 6019875   UniProtKB: Q925233   

Export aliases for CPT1B gene to outside databases

Previous GC identifers: GC22U990008 GC22M047513 GC22M049140 GC22M049143 GC22M049145 GC22M049299 GC22M049300 GC22M049354 GC22M033899


(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 CPT1B Gene:
The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the
rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme
is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria.
Multiple transcript variants encoding different isoforms have been found for this gene, and read-through
transcripts are expressed from the upstream locus that include exons from this gene. (provided by RefSeq, Jun
2009)

GeneCards Summary for CPT1B Gene:
CPT1B (carnitine palmitoyltransferase 1B (muscle)) is a protein-coding gene. Diseases associated with CPT1B include visceral steatosis, and hypersomnia. GO annotations related to this gene include carnitine O-palmitoyltransferase activity. An important paralog of this gene is CROT.




(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:
NC_000022.11  NC_018933.2  NT_011526.8  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPT1B gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CPT1B promoter sequence
   Search Chromatin IP Primers for CPT1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPT1B


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

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

CPT1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPT1B gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M051008:  view genomic region     (about GC identifiers)

Start:
51,007,290 bp from pter      End:
51,017,899 bp from pter
Size:
10,610 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, 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., 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: CPT1B_HUMAN, Q92523 (See protein sequence)
Recommended Name: Carnitine O-palmitoyltransferase 1, muscle isoform  
Size: 772 amino acids; 87801 Da
Miscellaneous: This protein is produced by a bicistronic gene which also produces the CHKB protein from a
non-overlapping reading frame
Sequence caution: Sequence=BAB33340.1; Type=Erroneous initiation;
Secondary accessions: B7Z4U4 B7Z5T8 E9PCP2 Q13389 Q99655 Q9BY90
Alternative splicing: 4 isoforms:  Q92523-1   Q92523-2   Q92523-3   Q92523-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CPT1B: NX_Q92523

Explore proteomics data for CPT1B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPT1B (Q92523) (see all 19)
     EVLSEPW  VYHKGRF  RWFDKSF  SSSETNA 


    See CPT1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001138606.1  NP_001138607.1  NP_001138608.1  NP_001138609.1  NP_004368.1  NP_689451.1  NP_689452.1  

    ENSEMBL proteins: 
     ENSP00000385486   ENSP00000312189   ENSP00000379011   ENSP00000396408   ENSP00000406316  
     ENSP00000353945   ENSP00000409342   ENSP00000414713   ENSP00000410966  
    Reactome Protein details: Q92523

    CPT1B Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CPT1B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry Q92523

    ProtoNet protein and cluster: Q92523

    1 Blocks protein domain: IPB000542 Acyltransferase ChoActase/COT/CPT

    UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523
    Similarity: Belongs to the carnitine/choline acetyltransferase family


    CPT1B 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CPT1B_HUMAN, Q92523
    Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

         Genatlas biochemistry entry for CPT1B:
    carnitine palmitoyl transferase of the outer mitochondrial membrane 1B,88kDa,malonyl CoA sensitive,muscle
    isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)

         Enzyme Numbers (IUBMB): EC 2.3.1.211 2 EC 2.3.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004095carnitine O-palmitoyltransferase activity IEA--
    GO:0005515protein binding ----
    GO:0016746transferase activity, transferring acyl groups ----
         
    CPT1B for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cpt1b):
     homeostasis/metabolism  mortality/aging 

    CPT1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cpt1btm1You for CPT1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPT1B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPT1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPT1B

    miRNA
    Products:
        
    miRTarBase miRNAs that target CPT1B:
    hsa-mir-1229-3p (MIRT036268), hsa-mir-335-5p (MIRT017237)

    Block miRNA regulation of human, mouse, rat CPT1B using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CPT1B:
    hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCPT1B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CPT1B

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 7): CPT1B (NM_152245)
    Sino Biological Human cDNA Clone for CPT1B
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1B


    (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
    CPT1B_HUMAN, Q92523: Mitochondrion outer membrane; Multi-pass membrane protein

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    CPT1B for ontologies           About GeneDecksing


    (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 CPT1B About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Import of palmitoyl-CoA into the mitochondrial matrix0.00
    2Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Immune response Function of MEF2 in T lymphocytes
    Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis0.38
    5Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Beta Oxidation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CPT1B
        AMPK Enzyme Complex Pathway

    2 GeneGo (Thomson Reuters) Pathways for CPT1B
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Development Leptin signaling via PI3K-dependent pathway

    5 BioSystems Pathways for CPT1B
        AMPK signaling
    Fatty Acid Beta Oxidation
    FOXA2 and FOXA3 transcription factor networks
    phosphatidylethanolamine biosynthesis II
    phosphatidylcholine biosynthesis I


    1 Reactome Pathway for CPT1B
        Import of palmitoyl-CoA into the mitochondrial matrix


    4 Kegg Pathways  (Kegg details for CPT1B):
        Fatty acid degradation
    Fatty acid metabolism
    PPAR signaling pathway
    Adipocytokine signaling pathway

    UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    CPT1B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPT1B: 

              Fatty Acid Metabolism in human mouse rat
              Mitochondria in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CPT1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CPT1B (ENSP000003121894) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACADLENSP000002337104STRING: ENSP00000233710
    ACADMENSP000004096124STRING: ENSP00000409612
    ACADVLENSP000003253954STRING: ENSP00000325395
    ACOX1ENSP000002932174STRING: ENSP00000293217
    ACOX3ENSP000003487754STRING: ENSP00000348775
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation IEA--
    GO:0006853carnitine shuttle TAS--
    GO:0015909long-chain fatty acid transport ----
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    CPT1B for ontologies           About GeneDecksing



    (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 CPT1B

    Selected HMDB Compounds for CPT1B (see all 132)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    L-PalmitoylcarnitinePalmitoyl d-carnitine (see all 16)2364-67-2--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--

    Selected Novoseek inferred chemical compound relationships for CPT1B gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 90.2 52 8830050 (3), 9473275 (2), 14711372 (2), 15070941 (2) (see all 34)
    malonyl-coa 74.6 4 16230690 (3), 10329463 (1)
    etomoxir 71.1 2 11866664 (1), 7557264 (1)
    acyl-coa 66.1 6 15070941 (2), 11866664 (1), 15885896 (1), 19763017 (1)
    fatty acid 62.9 10 11095470 (1), 8589632 (1), 9678254 (1), 16230690 (1) (see all 9)
    palmitate 48.4 2 16204336 (1)
    acetyl-coa 33.7 2 15070941 (2)
    lipid 23 3 16230690 (1), 16870954 (1), 15070941 (1)
    pyruvate 14.7 1 12606505 (1)
    glucose 12.9 3 11095470 (1), 16538490 (1)



    CPT1B for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CPT1B gene (8 alternative transcripts): 
    NM_001145134.1  NM_001145135.1  NM_001145136.1  NM_001145137.1  NM_004377.3  NM_152245.2  NM_152246.2  NM_152247.1  

    Unigene Cluster for CPT1B:

    Carnitine palmitoyltransferase 1B (muscle)
    Hs.439777  [show with all ESTs]
    Unigene Representative Sequence: NR_027928
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405237(uc003bmk.4) ENST00000312108(uc003bml.3) ENST00000395650
    ENST00000497224 ENST00000475238 ENST00000423069 ENST00000479886 ENST00000476790
    ENST00000460853 ENST00000461117 ENST00000417176 ENST00000360719(uc003bmm.3 uc003bmo.3 uc003bmn.3)
    ENST00000457250(uc011asa.2) ENST00000440709(uc011asb.2) ENST00000434492

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CPT1B:
    hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCPT1B 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 7): CPT1B (NM_152245)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPT1B
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      QuantiTect SYBR Green Assays in human, mouse, rat CPT1B
      QuantiFast Probe-based Assays in human, mouse, rat CPT1B

    Additional mRNA sequence: 

    AK223174.1 AK291316.1 AK297866.1 AK299395.1 BC142954.1 D87812.1 NR_027928.2 U62733.1 
    U66828.1 Y08682.1 Y08683.1 

    23 DOTS entries:

    DT.95144560  DT.86846692  DT.120661728  DT.95222983  DT.95144497  DT.75176833  DT.95111845  DT.95239121 
    DT.99958325  DT.120661716  DT.91751308  DT.91978213  DT.92056731  DT.100030060  DT.102835431  DT.120661768 
    DT.95068666  DT.120661765  DT.120661781  DT.75165249  DT.100662643  DT.120661774  DT.120661788 

    Selected AceView cDNA sequences (see all 312):

    BC037162 BG775203 BV176908 BU615917 BI828010 BX452505 AA324056 BM819077 
    BE550069 AI912083 AB051457 BE551899 BC024286 BQ026869 AL096781 AI375206 
    BI755332 BQ637300 AI401568 BU783787 BV178589 BQ445929 CD368624 BM044384 

    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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    CPT1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGACTTGT
    CPT1B Expression
    About this image


    CPT1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Thoracic Perivascular Adipose
             Brown adipocyte-like cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Heart (Cardiovascular System)
     
     Lung (Respiratory System)
     
     Spleen (Hematopoietic System)
    CPT1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPT1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439777

    UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523
    Tissue specificity: Strong expression in heart and skeletal muscle. No expression in liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CPT1B: 
              Fatty Acid Metabolism in human mouse rat
              Mitochondria in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT1B

    (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 CPT1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpt1b1 , 5 carnitine palmitoyltransferase 1b, muscle1, 5 85.66(n)1
    87.05(a)1
      15 (44.89 cM)5
    128951  NM_009948.21  NP_034078.21 
     894164055 
    lizard
    (Anolis carolinensis)
    Reptilia CPT1B6
    carnitine palmitoyltransferase 1B (muscle)
    68(a)
    1 ↔ 1
    GL343799.1(5780-62667)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cpt1b1 carnitine palmitoyltransferase 1B (muscle) 64.32(n)
    65.14(a)
      780223  NM_001079298.1  NP_001072766.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.122412 Transcribed sequence with weak similarity to protein more 72.56(n)    CF347409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CPTI3 carnitine O-palmitoyltransferase 50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.173   -- 45(a)
    (best of 5)
      II(12788488-12796026)   --


    ENSEMBL Gene Tree for CPT1B (if available)
    TreeFam Gene Tree for CPT1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPT1B gene
    CROT2  CPT1C2  CRAT2  CPT1A2  CHAT2  
    5 SIMAP similar genes for CPT1B using alignment to 6 protein entries:     CPT1B_HUMAN (see all proteins):
    CPT1A    CPT1C    ChAT    CRAT    CHAT

    CPT1B 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), 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 CPT1B (see all 455)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393379561,2
    C--34949800(+) AGCCTA/GGCCAA 7 -- ds50010--------
    rs1440899131,2
    C--34949851(+) GCCGGA/GCGTGA 7 -- ds50010--------
    rs1465225751,2
    --34949852(+) CCGGGC/TGTGAT 7 -- ds50010--------
    rs1845113641,2
    --34949860(+) GATGGC/TGGGCG 7 -- ds50010--------
    rs1486834711,2
    C--34949905(+) AGAATC/TGCTTG 7 -- ds50010--------
    rs1885165261,2
    --34949908(+) ATCGCC/TTGAAC 7 -- ds50010--------
    rs1422750431,2
    --34949987(+) ACTCCA/GCCTTA 7 -- ds50010--------
    rs57709051,2
    C,F,A,H--34949991(+) CGCCTC/TAAAAA 7 -- ds500112Minor allele frequency- T:0.25NS EA WA NA CSA 783
    rs1812367091,2
    --34950089(+) TCCTGC/TGTGCC 7 -- ds50010--------
    rs1129721491,2
    C,F--34950099(+) CCTCTT/CGCAGA 7 -- ds50013Minor allele frequency- C:0.05CSA WA 121
    rs1174916201,2
    F--34950181(+) GGGCCC/TGTGCA 7 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1848962961,2
    --34950360(+) GCCTAC/TGTCAC 7 -- ut310--------

    HapMap Linkage Disequilibrium report for CPT1B (51007290 - 51017899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CPT1B (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv914559CNV Loss21882294
    nsv915495CNV Loss21882294
    nsv914561CNV Loss21882294
    dgv5062n71CNV Loss21882294
    dgv5068n71CNV Loss21882294
    esv33185CNV Loss17666407
    nsv914525CNV Loss21882294
    nsv914543CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CPT1B
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CPT1B
    DNA2.0 Custom Variant and Variant Library Synthesis for CPT1B

    (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: 601987    OMIM disorders: --

    20 diseases for CPT1B:    
    About MalaCards
    visceral steatosis    hypersomnia    carnitine palmitoyltransferase ii deficiency    status epilepticus
    pre-eclampsia    chronic myeloid leukemia    narcolepsy    eclampsia
    essential hypertension    obesity    hypertension    chronic lymphocytic leukemia
    acute myocardial infarction    insulin resistance    myeloid leukemia    alzheimer's disease
    myocardial infarction    colorectal cancer    leukemia    hiv-1


    CPT1B for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for CPT1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine palmitoyltransferase i deficiency 86.4 3 17160614 (2), 8482285 (1)
    obesity 16.6 1 17089095 (1)

    Genetic Association Database (GAD): CPT1B
    Human Genome Epidemiology (HuGE) Navigator: CPT1B (14 documents)

    Export disorders for CPT1B 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 CPT1B gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with CPT1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). (PubMed id 9070950)1, 2, 3, 9 Britton C.H.... McGarry J.D. (Genomics 1997)
    2. Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men. (PubMed id 19553926)1, 4, 9 Miljkovic I....Zmuda J.M. (Obesity (Silver Spring) 2009)
    3. Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians. (PubMed id 17089095)1, 4, 9 Robitaille J....Vohl M.C. (J. Mol. Med. 2007)
    4. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. (PubMed id 9224698)1, 2, 9 Yamazaki N....Terada H. (FEBS Lett. 1997)
    5. Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I. (PubMed id 9199240)1, 2, 9 van der Leij F.R....Kuipers J.R.G. (Biochim. Biophys. Acta 1997)
    6. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2, 9 Hirosawa M.... Ohara O. (DNA Res. 2001)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). (PubMed id 19404393)1, 4 Miyagawa T....Tokunaga K. (PLoS ONE 2009)
    10. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)

    (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: 1375 HGNC: 2329 AceView: CPT1B Ensembl:ENSG00000205560 euGenes: HUgn1375
    ECgene: CPT1B Kegg: 1375 H-InvDB: CPT1B

    (According to HUGE)
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    HUGE: KIAA1670

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

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    NameDescription
    PharmGKB entry for CPT1B 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 CPT1B gene:
    Search GeneIP for patents involving CPT1B

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



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