Human Gene CPT1B (ENST00000395650.6) from GENCODE V44
  Description: Palmitoyl-CoA + L-carnitine = CoA + L- palmitoylcarnitine. (from UniProt Q92523)
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].
Gencode Transcript: ENST00000395650.6
Gencode Gene: ENSG00000205560.13
Transcript (Including UTRs)
   Position: hg38 chr22:50,569,084-50,578,455 Size: 9,372 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr22:50,569,338-50,577,915 Size: 8,578 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:50,569,084-50,578,455)mRNA (may differ from genome)Protein (772 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIneXtProtPubMedReactome
UniProtKB

-  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
 

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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


-  MalaCards Disease Associations
  MalaCards Gene Search: CPT1B
Diseases sorted by gene-association score: cpt deficiency, hepatic, type ia (15), carnitine palmitoyltransferase ii deficiency (12), visceral steatosis (10), hypersomnia (8), chronic recurrent multifocal osteomyelitis (7), narcolepsy (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.2089-0.384 Picture PostScript Text
3' UTR -104.40254-0.411 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

ModBase Predicted Comparative 3D Structure on Q92523
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.
BC131570 - Homo sapiens carnitine palmitoyltransferase 1B (muscle), mRNA (cDNA clone MGC:149140 IMAGE:40108355), complete cds.
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.
JD338273 - Sequence 319297 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_HUMAN, E9PCP2, ENST00000395650.1, ENST00000395650.2, ENST00000395650.3, ENST00000395650.4, ENST00000395650.5, KIAA1670, Q13389, Q92523, Q99655, Q9BY90, uc003bmm.1, uc003bmm.2, uc003bmm.3, uc003bmm.4, Y08683
UCSC ID: ENST00000395650.6
RefSeq Accession: NM_004377
Protein: Q92523 (aka CPT1B_HUMAN or CPTM_HUMAN)
CCDS: CCDS14098.1, CCDS46734.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.