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

CPT1B Gene

protein-coding   GIFtS: 66
GCID: GC22M051008

Carnitine Palmitoyltransferase 1B (Muscle)

Microbiology & Infectious Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n408072      

Export aliases for CPT1B gene to outside databases

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


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

Entrez Gene summary for 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, and is affiliated with the lncRNA class. Diseases associated with CPT1B include visceral steatosis, and hypersomnia, and among its related super-pathways are Fatty Acid Beta Oxidation and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011526.7  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CPT1B

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

UniProtKB/Swiss-Prot: CPT1B_HUMAN, Q92523 (See protein sequence)
Recommended Name: Carnitine O-palmitoyltransferase 1, muscle isoform  
Size: 772 amino acids; 87801 Da
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92523

  • 4/19 DME Specific Peptides for CPT1B (Q92523) (see all 19)
     EVLSEPW  VYHKGRF  RWFDKSF  SSSETNA 

    CPT1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPT1B Protein Expression
    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
    Human Recombinant Protein Products for CPT1B: 
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    Cloud-Clone Corp. Proteins for CPT1B 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS10408760
    GO:0005741mitochondrial outer membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    CPT1B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for CPT1B 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    4Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00
    5Synthesis of PE
    phosphatidylethanolamine biosynthesis II0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Downloadable PowerPoint Slide of QIAGEN 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
    phosphatidylcholine biosynthesis I
    phosphatidylethanolamine biosynthesis II

    4        Reactome Pathways for CPT1B
        Import of palmitoyl-CoA into the mitochondrial matrix
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins


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

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


    CPT1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPT1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for CPT1B (ENSP000003121894) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CPT1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPT1B

    10/132 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--

    10/11 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)

    Search CenterWatch for drugs/clinical trials and news about CPT1B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/312 AceView cDNA sequences (see all 312):

    BC056404 U66828 BU784008 BI826025 BG423657 CB306606 BM854694 CD368624 
    BQ637300 Y08682 NM_152246 AB029886 CR619131 BG775203 CR592308 CR601717 
    CR607964 CR600292 BC082263 NM_152245 W32105 BU615917 AI375206 AB051457 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPT1B expression in normal human tissues (normalized intensities)      CPT1B embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Blood (Cardiovascular System)
             mouse/organ system/cardiovascular system   

    See CPT1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPT1B

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including CPT1B: 
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              Mitochondria in human mouse rat
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPT1B
    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CPT1B gene from 6/14 species (see all 14)    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
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343799.1(5780-62667)
    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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CKI1(YLR133W)4 Choline kinase, catalyzing the first step in phosphatidylcholine more   --   12(408445-410193) 850824  NP_013234.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/455 SNPs in CPT1B are shown (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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601987    OMIM disorders: --

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


    CPT1B for disorders           About GeneDecksing


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

    2 Novoseek inferred disease relationships for 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)
    About This Section

    PubMed articles for CPT1B gene, integrated from 9 sources (see all 81) (see top 10):
    (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. (1997)
    2. Association of the CPT1B gene with skeletal muscle fa t infiltration in Afro-Caribbean men. (PubMed id 19553926)1, 4, 9 Miljkovic I....Zmuda J.M. (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. (2007)
    4. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. (PubMed id 9224698)1, 2, 9 Yamazaki N....Terada H. (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. (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. (2001)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Polymorphism located between CPT1B and CHKB, and HLA- DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essent ial hypersomnia). (PubMed id 19404393)1, 4 Miyagawa T....Tokunaga K. (2009)
    10. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (2009)
    11. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    12. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. (PubMed id 18820697)1, 4 Miyagawa T....Tokunaga K. (2008)
    13. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (2008)
    14. Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension. (PubMed id 15647998)1, 4 Tripodi G....Stella P. (2005)
    15. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    16. Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I. (PubMed id 9344464)1, 2 Zhu H....Woldegiorgis G. (1997)
    17. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. (PubMed id 8679700)1, 2 Yamazaki N.... Terada H. (1996)
    18. Genomics of the human carnitine acyltransferase genes. (PubMed id 11001805)1, 9 van der Leij F.R....Bartelds B. (2000)
    19. Cysteine-scanning mutagenesis of muscle carnitine palmitoyltransferase I reveals a single cysteine residue (Cys-305) is important for catalysis. (PubMed id 15579906)1, 9 Liu H....Woldegiorgis G. (2005)
    20. Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients. (PubMed id 23566841)1 Khan H.A. and Alhomida A.S. (2013)
    21. A common haplotype of carnitine palmitoyltransferase 1 b is associated with the metabolic syndrome. (PubMed id 22809552)1 Auinger A....Schrezenmeir J. (2013)
    22. Exertional rhabdomyolysis: a clinical review with a fo cus on genetic influences. (PubMed id 22538307)1 Landau M.E....Campbell W. (2012)
    23. TCRA, P2RY11, and CPT1B/CHKB associations in Chinese n arcolepsy. (PubMed id 22177342)1 Han F....Mignot E. (2012)
    24. Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (2010)
    25. Replacement of C305 in heart/muscle-type isozyme of h uman carnitine palmitoyltransferase I with aspartic acid and other amino acids. (PubMed id 19937377)1 Matsuo T....Shinohara Y. (2010)
    26. Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men. (PubMed id 19141999)4 Giedraitis V....Glaser A. (2009)
    27. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    28. Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms. (PubMed id 17987377)1 Yamazaki N....Shinohara Y. (2008)
    29. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. (PubMed id 18823527)1 Abraham R....Kirov G. (2008)
    30. AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism. (PubMed id 16054041)1 Kahn B.B....Hardie D.G. (2005)
    31. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    32. Functional interaction between peroxisome proliferator-activated receptors-alpha and Mef-2C on human carnitine palmitoyltransferase 1beta (CPT1beta) gene activation. (PubMed id 15356291)1 Baldan A....Haro D. (2004)
    33. Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for activity. (PubMed id 12565845)1 Dai J....Woldegiorgis G. (2003)
    34. Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals. (PubMed id 12015320)1 van der Leij F.R....Price N.T. (2002)
    35. 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. (2002)
    36. Molecular enzymology of carnitine transfer and transport. (PubMed id 11257506)1 Ramsay R.R....van der Leij F.R. (2001)
    37. Palmitoylation of the HIV-1 envelope glycoprotein is critical for viral infectivity. (PubMed id 11095714)1 Rousso I....Kim P.S. (2000)
    38. Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. (PubMed id 10918069)1 Yamazaki N.... Terada H. (2000)
    39. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1 Loftus B.J.... Adams M.D. (1999)
    40. Expression and regulation of carnitine palmitoyltransferase-Ialpha and -Ibeta genes. (PubMed id 10408760)1 Cook G.A. and Park E.A. (1999)
    41. Expression of novel isoforms of carnitine palmitoyltransferase I (CPT-1) generated by alternative splicing of the CPT-ibeta gene. (PubMed id 9693124)1 Yu G.S....Gulick T. (1998)
    42. Co-regulation of tissue-specific alternative human carnitine palmitoyltransferase Ibeta gene promoters by fatty acid enzyme substrate. (PubMed id 9830040)1 Yu G.S....Gulick T. (1998)
    43. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)
    44. Carnitine palmitoyltransferase I in liver of periparturient dairy cows: effects of prepartum intake, postpartum induction of ketosis, and periparturient disorders. (PubMed id 16230690)9 Dann H.M. and Drackley J.K. (2005)
    45. A characteristic Glu17 residue of pig carnitine palmitoyltransferase 1 is responsible for the low Km for carnitine and the low sensitivity to malonyl-CoA inhibition of the enzyme. (PubMed id 19049515)9 Relat J....Marrero P.F. (2009)
    46. Human and rat tumour cells possess mitochondrial carnitine palmitoyltransferase I and II: effects of insulin. (PubMed id 8589632)9 Colquhoun A. and Curi R. (1995)
    47. Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse. (PubMed id 18023382)9 Ji S....Wood P.A. (2008)
    48. Carnitine palmitoyltransferase I activity monitoring in fibroblasts and leukocytes using electrospray ionization mass spectrometry. (PubMed id 9473275)9 Nolte L....Erasmus E. (1998)
    49. Therapeutic potential of CPT I inhibitors: cardiac gene transcription as a target. (PubMed id 11866664)9 Zarain-Herzberg A. and Rupp H. (2002)
    50. Increased expression of carnitine palmitoyltransferase I gene is repressed by administering L-carnitine in the hearts of carnitine-deficient juvenile visceral steatosis mice. (PubMed id 8830050)9 Uenaka R....Ohta S. (1996)
    51. Reciprocal enzymatic interference of carnitine palmitoyltransferase I and glycerol-3-phosphate acyltransferase in purified liver mitochondria. (PubMed id 10709629)9 Beauseigneur F....Clouet P. (1999)
    52. Induction of apoptosis by polyunsaturated fatty acids and its relationship to fatty acid inhibition of carnitine palmitoyltransferas e I activity in Hep2 cells. (PubMed id 9678254)9 Colquhoun A. (1998)
    53. Reduced plasma free fatty acid availability during exercise: effect on gene expression. (PubMed id 17186295)9 Tunstall R.J....Cameron-Smith D. (2007)
    54. Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency. (PubMed id 17160614)9 Worthington H....Morris A.A. (2007)
    55. Fatty acid metabolism pathway play an important role in carcinogenesis of human colorectal cancers by Microarray-Bioinformatics analysis. (PubMed id 15885896)9 Yeh C.S....Lin S.R. (2006)
    56. Relationships between maternal plasma leptin, placental leptin mRNA and protein in normal pregnancy, pre-eclampsia and intrauterine growth restriction without pre-eclampsia. (PubMed id 16870954)9 Laivuori H....Powers R.W. (2006)
    57. Do blood cells mimic gene expression profile alterations known to occur in muscular adaptation to endurance training? (PubMed id 15815935)9 Zeibig J....Smekal G. (2005)
    58. Further lowering of muscle lipid oxidative capacity in obese subjects after biliopancreatic diversion. (PubMed id 15070941)9 Fabris R....Vettor R. (2004)
    59. Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. (PubMed id 14711372)9 Morillas M.... Asins G. (2004)
    60. Effect of short-term fasting and refeeding on transcriptional regulation of metabolic genes in human skeletal muscle. (PubMed id 12606505)9 Pilegaard H....Neufer P.D. (2003)
    61. Expression of genes involved in lipid metabolism correlate with peroxisome proliferator-activated receptor gamma expression in human skeletal muscle. (PubMed id 11095470)9 Lapsys N.M....Cooney G.J. (2000)
    62. Regulation of the activity of caspases by L-carnitine and palmitoylcarnitine. (PubMed id 10922462)9 Mutomba M.C....Gottlieb R.A. (2000)
    63. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. (PubMed id 8482285)9 Vianey-Saban C....Mathieu M. (1993)
    64. Skeletal muscle characteristics of rats with obesity, diabetes, hypertension, and hyperlipidemia. (PubMed id 19763017)9 Nagatomo F....Ishihara A. (2009)
    65. Chapter 3: The shifting balance between CLU forms dur ing tumor progression. (PubMed id 19878771)9 Pucci S. and Bettuzzi S. (2009)
    66. Activation of peroxisome proliferator-activated receptor (PPAR)delta promotes reversal of multiple metabolic abnormalities, reduces oxidative stress, and increases fatty acid oxidation in moderately obese men. (PubMed id 18024853)9 Riserus U....Karpe F. (2008)
    67. Vegetarian diet affects genes of oxidative metabolism and collagen synthesis. (PubMed id 18772587)9 Karlic H....Handschur M. (2008)
    68. Skeletal muscle lipid oxidation and obesity: influence of weight loss and exercise. (PubMed id 18252891)9 Berggren J.R....Houmard J.A. (2008)
    69. Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. (PubMed id 17825594)9 Roe C.R....Garritson B. (2007)
    70. Discordant gene expression in skeletal muscle and adipose tissue of patients with type 2 diabetes: effect of interleukin-6 infusion. (PubMed id 16538490)9 Carey A.L....Febbraio M.A. (2006)
    71. Stevioside counteracts the alpha-cell hypersecretion caused by long-term palmitate exposure. (PubMed id 16204336)9 Hong J....Hermansen K. (2006)
    72. Hypothalamic malonyl-CoA triggers mitochondrial biogenesis and oxidative gene expression in skeletal muscle: Role of PGC-1alpha. (PubMed id 17030788)9 Cha S.H....Lane M.D. (2006)
    73. RIP140-targeted repression of gene expression in adipocytes. (PubMed id 16227589)9 Christian M....Parker M.G. (2005)
    74. Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells. (PubMed id 15613406)9 Djouadi F....Bastin J. (2005)
    75. Increased beta-oxidation in muscle cells enhances insulin-stimulated glucose metabolism and protects against fatty acid-induced insulin resistance despite intramyocellular lipid accumulation. (PubMed id 15105415)9 Perdomo G....Brown N.F. (2004)
    76. A potent PPARalpha agonist stimulates mitochondrial fatty acid beta-oxidation in liver and skeletal muscle. (PubMed id 11158930)9 Minnich A....Bilder G. (2001)
    77. Effect of the hemoregulatory peptide (pEEDCK)2 (pyroGlu-Glu-Asp-Cys-Lys)2 and MIP-1alpha is reduced in bone marrow cultures from patients with chronic myeloid leukemia (CML). (PubMed id 11463952)9 Karlic H....Paukovits J. (2001)
    78. Liver mitochondria, confirmed as intact by complete suppression of succinate uptake and oxidation, possess a carnitine palmitoyltransferase I that is totally inhibited by malonyl CoA. (PubMed id 10329463)9 Abo-Hashema K.A....Potter I.C. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1375 HGNC: 2329 AceView: CPT1B Ensembl:ENSG00000205560 euGenes: HUgn1375
    ECgene: CPT1B Kegg: 1375 H-InvDB: CPT1B

    (According to HUGE)
    About This Section
    HUGE: KIAA1670

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPT1B Pharmacogenomics, SNPs, Pathways

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for CPT1B
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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