Human Gene CHKB-CPT1B (uc003bmm.3)
  Description: Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CHKB-CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_004377): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:51,007,290-51,016,894 Size: 9,605 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr22:51,007,767-51,016,344 Size: 8,578 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:51,007,290-51,016,894)mRNA (may differ from genome)Protein (772 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CPT1B_HUMAN
DESCRIPTION: RecName: Full=Carnitine O-palmitoyltransferase 1, muscle isoform; Short=CPT1-M; EC=2.3.1.21; AltName: Full=Carnitine O-palmitoyltransferase I, muscle isoform; Short=CPT I; Short=CPTI-M; AltName: Full=Carnitine palmitoyltransferase 1B; AltName: Full=Carnitine palmitoyltransferase I-like protein;
CATALYTIC ACTIVITY: Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine.
PATHWAY: Lipid metabolism; fatty acid beta-oxidation.
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Strong expression in heart and skeletal muscle. No expression in liver and kidney.
MISCELLANEOUS: This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame.
SIMILARITY: Belongs to the carnitine/choline acetyltransferase family.
SEQUENCE CAUTION: Sequence=BAB33340.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.16 RPKM in Heart - Left Ventricle
Total median expression: 71.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.2099-0.487 Picture PostScript Text
3' UTR -182.60477-0.383 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000542 - Carn_acyl_trans

Pfam Domains:
PF00755 - Choline/Carnitine o-acyltransferase
PF16484 - Carnitine O-palmitoyltransferase N-terminus

SCOP Domains:
52777 - CoA-dependent acyltransferases

ModBase Predicted Comparative 3D Structure on Q92523
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004095 carnitine O-palmitoyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006635 fatty acid beta-oxidation
GO:0006853 carnitine shuttle
GO:0015909 long-chain fatty acid transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  D87812 - Homo sapiens mRNA for carnitine palmitoyltransferase I, complete cds.
BC142954 - Homo sapiens carnitine palmitoyltransferase 1B (muscle), mRNA (cDNA clone MGC:167008 IMAGE:8860341), complete cds.
Y08682 - H.sapiens mRNA for carnitine palmitoyltransferase I type I.
AK297866 - Homo sapiens cDNA FLJ55729 complete cds, highly similar to Carnitine O-palmitoyltransferase I, muscle isoform (EC 2.3.1.21).
AK299395 - Homo sapiens cDNA FLJ58750 complete cds, highly similar to Carnitine O-palmitoyltransferase I, muscle isoform (EC 2.3.1.21).
AK223174 - Homo sapiens mRNA for carnitine palmitoyltransferase 1B isoform a variant, clone: LNG15315.
AB051457 - Homo sapiens mRNA for KIAA1670 protein, partial cds.
U62733 - Human carnitine palmitoyltransferase I mRNA, nuclear gene encoding mitochondrial protein, complete cds.
JD479195 - Sequence 460219 from Patent EP1572962.
JD422194 - Sequence 403218 from Patent EP1572962.
JD419635 - Sequence 400659 from Patent EP1572962.
JD557238 - Sequence 538262 from Patent EP1572962.
BC131570 - Homo sapiens carnitine palmitoyltransferase 1B (muscle), mRNA (cDNA clone MGC:149140 IMAGE:40108355), complete cds.
JD253320 - Sequence 234344 from Patent EP1572962.
JD301262 - Sequence 282286 from Patent EP1572962.
Y08683 - H.sapiens mRNA for carnitine palmitoyltransferase I type II.
U66828 - Human carnitine palmitoyltransferase I (CPTI) mRNA, complete cds.
JD231874 - Sequence 212898 from Patent EP1572962.
JD344321 - Sequence 325345 from Patent EP1572962.
JD384685 - Sequence 365709 from Patent EP1572962.
JD122191 - Sequence 103215 from Patent EP1572962.
JD533487 - Sequence 514511 from Patent EP1572962.
JD134271 - Sequence 115295 from Patent EP1572962.
JD417144 - Sequence 398168 from Patent EP1572962.
JD148781 - Sequence 129805 from Patent EP1572962.
JD203454 - Sequence 184478 from Patent EP1572962.
JD073915 - Sequence 54939 from Patent EP1572962.
JD162598 - Sequence 143622 from Patent EP1572962.
JD252935 - Sequence 233959 from Patent EP1572962.
JD289369 - Sequence 270393 from Patent EP1572962.
AK291316 - Homo sapiens cDNA FLJ76296 complete cds, highly similar to Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), transcript variant 1, mRNA.
KJ901353 - Synthetic construct Homo sapiens clone ccsbBroadEn_10747 CPT1B gene, encodes complete protein.
BC143071 - Synthetic construct Homo sapiens clone IMAGE:100000785, MGC:167310 carnitine palmitoyltransferase 1B (muscle) (CPT1B) mRNA, encodes complete protein.
BC150318 - Synthetic construct Homo sapiens clone IMAGE:100013586, MGC:167311 carnitine palmitoyltransferase 1B (muscle) (CPT1B) mRNA, encodes complete protein.
KJ896640 - Synthetic construct Homo sapiens clone ccsbBroadEn_06034 CPT1B gene, encodes complete protein.
JD211642 - Sequence 192666 from Patent EP1572962.
JD271905 - Sequence 252929 from Patent EP1572962.
JD164921 - Sequence 145945 from Patent EP1572962.
JD438228 - Sequence 419252 from Patent EP1572962.
JD343412 - Sequence 324436 from Patent EP1572962.
JD244027 - Sequence 225051 from Patent EP1572962.
JD487453 - Sequence 468477 from Patent EP1572962.
JD225886 - Sequence 206910 from Patent EP1572962.
JD237650 - Sequence 218674 from Patent EP1572962.
JD351762 - Sequence 332786 from Patent EP1572962.
JD047957 - Sequence 28981 from Patent EP1572962.
JD232087 - Sequence 213111 from Patent EP1572962.
JD449163 - Sequence 430187 from Patent EP1572962.
JD192805 - Sequence 173829 from Patent EP1572962.
JD173301 - Sequence 154325 from Patent EP1572962.
JD536266 - Sequence 517290 from Patent EP1572962.
JD493971 - Sequence 474995 from Patent EP1572962.
JD203351 - Sequence 184375 from Patent EP1572962.
JD452753 - Sequence 433777 from Patent EP1572962.
JD074864 - Sequence 55888 from Patent EP1572962.
JD323498 - Sequence 304522 from Patent EP1572962.
JD345049 - Sequence 326073 from Patent EP1572962.
JD479617 - Sequence 460641 from Patent EP1572962.
JD449143 - Sequence 430167 from Patent EP1572962.
JD234562 - Sequence 215586 from Patent EP1572962.
JD409386 - Sequence 390410 from Patent EP1572962.
DQ585501 - Homo sapiens piRNA piR-52613, complete sequence.
AK301477 - Homo sapiens cDNA FLJ56256 complete cds, highly similar to Choline/ethanolamine kinase.
JD055311 - Sequence 36335 from Patent EP1572962.
JD268926 - Sequence 249950 from Patent EP1572962.
JD218494 - Sequence 199518 from Patent EP1572962.
JD470203 - Sequence 451227 from Patent EP1572962.
JD402754 - Sequence 383778 from Patent EP1572962.
JD141372 - Sequence 122396 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00071 - Fatty acid metabolism
hsa03320 - PPAR signaling pathway
hsa04920 - Adipocytokine signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q92523 (Reactome details) participates in the following event(s):

R-HSA-200406 CPT1A,B transfers PALM to CAR
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-8978868 Fatty acid metabolism
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-556833 Metabolism of lipids
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z4U4, B7Z5T8, CPT1B, CPT1B_HUMAN, E9PCP2, KIAA1670, NM_004377, NP_689452, Q13389, Q92523, Q99655, Q9BY90
UCSC ID: uc003bmm.3
RefSeq Accession: NM_004377
Protein: Q92523 (aka CPT1B_HUMAN or CPTM_HUMAN)
CCDS: CCDS14098.1, CCDS46734.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004377.3
exon count: 19CDS single in 3' UTR: no RNA size: 2912
ORF size: 2319CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4670.00frame shift in genome: no % Coverage: 99.42
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 306# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.