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

CPT1B Gene

protein-coding   GIFtS: 67
GCID: GC22M051008

carnitine palmitoyltransferase 1B (muscle)
 Explore 21 diseases affiliated with
CPT1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CPT1B    

Aliases
for CPT1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
CPT1-M1 2 3     Carnitine O-Palmitoyltransferase 1, Muscle Isoform2
M-CPT11 2     Carnitine O-Palmitoyltransferase I, Mitochondrial Muscle Isoform2
Carnitine Palmitoyltransferase I-Like Protein2 3     KIAA16703
CPTI-M2 3     Carnitine O-Palmitoyltransferase I, Muscle Isoform3
EC 2.3.1.213 8     Carnitine Palmitoyltransferase 1B3
CPT1M2     CPT I3
CPTI2     EC 2.3.18
MCCPT12     

External Ids:    HGNC: 23291   Entrez Gene: 13752   Ensembl: ENSG000002055607   OMIM: 6019875   UniProtKB: Q925233   
ORGUL members:         
NONCODE:n408072    

Export aliases for CPT1B gene to outside databases

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


Summaries
for CPT1B gene

(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:
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)




Genomic Views
for CPT1B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  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

Proteins
for CPT1B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals CPT1B Protein
    Novus Biologicals CPT1B Lysates
    Sino Biological Recombinant Protein for CPT1B
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    Uscn 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:0005792microsome ----
    GO:0016021integral to membrane IEA--


    CPT1B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CPT1B

    Protein Domains /
    Families
    for CPT1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CPT1B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry Q92523

    ProtoNet protein and cluster: Q92523

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

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


    Function
    for CPT1B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CPT1B
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CPT1B:
    hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmid: CPT1B 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Cpt1btm1You for CPT1B
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cpt1b):
     homeostasis/metabolism  mortality/aging 

    CPT1B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CPT1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Leptin signaling via PI3K-dependent pathway
    		Development Leptin signaling via PI3K-dependent pathway1.00
    		Adipocytokine signaling pathway0.29
    		Development_Leptin signaling via PI3K-dependent pathway1.00
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    		Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis1.00
    		Development_Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis0.97
    4Fatty Acid Beta Oxidation
    		Fatty Acid Beta Oxidation1.00
    		Fatty acid metabolism0.32
    5Import of palmitoyl-CoA into the mitochondrial matrix
    		Import of palmitoyl-CoA into the mitochondrial matrix1.00

    Pathway sources
    See GeneCards unified pathways
    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
    phosphatidylethanolamine biosynthesis II
    phosphatidylcholine biosynthesis I

    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 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

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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



    Drugs & Compounds
    for CPT1B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for CPT1B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CPT1B:
    hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmid: CPT1B 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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.120661774  DT.120661781  DT.75165249  DT.100662643  DT.120661788 

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

    BI826025 AK097775 Y08683 BM819077 CR624842 NM_005198 AL044829 AI375206 
    BC037162 F00155 BC082263 AL045256 U62733 AL096780 BX452505 BU784008 
    CR619131 BQ344726 CB306606 BU685022 BU783787 NM_152246 AB029886 BV178589 

    GeneLoc Exon Structure


    Expression
    for CPT1B gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGACTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CPT1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Brown adipocyte-like cells (Differentiation of w...)

    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: 
              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

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    Orthologs
    for CPT1B gene

    (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.

    Orthologs for CPT1B gene from 4/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia CPT1B6
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343799.1(14986-62072)
    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
    for CPT1B gene

    (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



    Genomic Variants
    for CPT1B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    12/258 NCBI SNPs in CPT1B are shown (see all 258)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1129721491,2
    		C,--33898095(+) CCTCTT/CGCAGA 7 -- ds50013Minor allele frequency- C:0.05CSA WA 121
    rs1116333961,2
    		--33898635(+) CCAGCG/AAGGAC 7 -- ut31 int11Minor allele frequency- A:0.50CSA 2
    rs8772941,2
    		--33898693(-) AGGCAT/GGAGGG 7 -- ut31 int11Minor allele frequency- G:0.00MN 184
    rs1166236241,2
    		C,F,--33899262(+) CCAAAG/AAATGC 7 -- int11Minor allele frequency- A:0.03WA 118
    rs738912881,2
    		C,--33899421(+) TTGGAT/AAAGTA 7 -- int12Minor allele frequency- A:0.05WA 120
    rs178484711,2
    		C,--33899440(-) ACTGGA/GTGCTT 7 -- int10--------
    rs121607941,2
    		C,--33899495(+) GTACCC/TCGGAA 7 -- int13Minor allele frequency- T:0.05CSA WA NA 240
    rs1135473711,2
    		--33899515(+) ATGCTT/GCAGCA 7 -- int12Minor allele frequency- G:0.04CSA WA 120
    rs81424361,2
    		C,--33901244(+) AGGGGC/TGGTGG 7 -- int10--------
    rs775083301,2
    		C,--33901925(+) AGCTTC/TCCATA 7 -- int11Minor allele frequency- T:0.50WA 2
    rs1926723381,2
    		C,--33902064(+) GCCCTA/GCCCAA 7 -- int10--------
    rs788727021,2
    		F,--33902067(+) CTACCC/TAACCA 7 -- int11Minor allele frequency- T:0.07WA 118

    HapMap Linkage Disequilibrium report for CPT1B (51007290 - 51017899 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CPT1B
         3 CNVs: 4139 5192 7354
    Human Gene Mutation Database (HGMD): CPT1B

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    Disorders / Diseases
    for CPT1B gene

    (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.)
    About This Section
    CPT1B for disorders           About GeneDecksing

    OMIM gene information: 601987    OMIM disorders: --

    20/21 diseases for CPT1B (see all 21):    About MalaCards
    visceral steatosis    pre-eclampsia    cpt deficiency    status epilepticus
    carnitine deficiency    hypersomnia    chronic lymphocytic leukemia    chronic myeloid leukemia
    lymphocytic leukemia    myeloid leukemia    insulin resistance    essential hypertension
    eclampsia    hyperlipidemia    narcolepsy    leukemia
    obesity    hypertension    alzheimer's disease    colorectal cancer

    2 Novoseek 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

    Publications
    for CPT1B gene

    (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 78):
    (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. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. (PubMed id 9224698)1, 2, 9 Yamazaki N....Terada H. (1997)
    3. 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)
    4. 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)
    5. Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension. (PubMed id 15647998)1, 4 Tripodi G....Stella P. (2005)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    7. Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I. (PubMed id 9344464)1, 2 Zhu H....Woldegiorgis G. (1997)
    8. 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)
    9. Association of the CPT1B gene with skeletal muscle fa t infiltration in Afro-Caribbean men. (PubMed id 19553926)1, 9 Miljkovic I....Zmuda J.M. (2009)
    10. 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, 9 Robitaille J....Vohl M.C. (2007)

    External Searches for CPT1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing CPT1B gene

    (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

    Other Databases showing CPT1B gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1670

    Specialized Databases showing CPT1B gene

    (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

    Intellectual Property
    for CPT1B gene

    (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:
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