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Aliases for CPT1B Gene

Aliases for CPT1B Gene

  • Carnitine Palmitoyltransferase 1B (Muscle) 2 3
  • Carnitine Palmitoyltransferase I-Like Protein 3 4
  • EC 2.3.1.21 4 64
  • CPT1-M 3 4
  • CPTI-M 3 4
  • Carnitine O-Palmitoyltransferase I, Mitochondrial Muscle Isoform 3
  • Carnitine O-Palmitoyltransferase 1, Muscle Isoform 3
  • Carnitine O-Palmitoyltransferase I, Muscle Isoform 4
  • Carnitine Palmitoyltransferase 1B 4
  • KIAA1670 4
  • EC 2.3.1 64
  • M-CPT1 3
  • MCCPT1 3
  • CPT1M 3
  • MCPT1 3
  • CPT I 4
  • CPTI 3

External Ids for CPT1B Gene

Summaries for CPT1B Gene

Entrez Gene Summary for CPT1B Gene

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

GeneCards Summary for CPT1B Gene

CPT1B (Carnitine Palmitoyltransferase 1B (Muscle)) is a Protein Coding gene. Diseases associated with CPT1B include hypersomnia and visceral steatosis. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include carnitine O-palmitoyltransferase activity. An important paralog of this gene is CRAT.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT1B Gene

Genomics for CPT1B Gene

Genomic Location for CPT1B Gene

Start:
50,568,861 bp from pter
End:
50,578,667 bp from pter
Size:
9,807 bases
Orientation:
Minus strand

Genomic View for CPT1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CPT1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT1B Gene

Regulatory Elements for CPT1B Gene

Proteins for CPT1B Gene

  • Protein details for CPT1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92523-CPT1B_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 1, muscle isoform
    Protein Accession:
    Q92523
    Secondary Accessions:
    • B7Z4U4
    • B7Z5T8
    • E9PCP2
    • Q13389
    • Q99655
    • Q9BY90

    Protein attributes for CPT1B Gene

    Size:
    772 amino acids
    Molecular mass:
    87801 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame
    SequenceCaution:
    • Sequence=BAB33340.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CPT1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPT1B Gene

Proteomics data for CPT1B Gene at MOPED

Post-translational modifications for CPT1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for CPT1B Gene

Protein Domains for CPT1B Gene

UniProtKB/Swiss-Prot:

CPT1B_HUMAN
Family:
  • Belongs to the carnitine/choline acetyltransferase family.:
    • Q92523
genes like me logo Genes that share domains with CPT1B: view

No data available for Gene Families for CPT1B Gene

Function for CPT1B Gene

Molecular function for CPT1B Gene

GENATLAS Biochemistry: carnitine palmitoyl transferase of the outer mitochondrial membrane 1B,88kDa,malonyl CoA sensitive,muscle isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)
UniProtKB/Swiss-Prot CatalyticActivity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

Enzyme Numbers (IUBMB) for CPT1B Gene

Gene Ontology (GO) - Molecular Function for CPT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016746 transferase activity, transferring acyl groups --
genes like me logo Genes that share ontologies with CPT1B: view

Phenotypes for CPT1B Gene

genes like me logo Genes that share phenotypes with CPT1B: view

Animal Models for CPT1B Gene

MGI Knock Outs for CPT1B:

miRNA for CPT1B Gene

miRTarBase miRNAs that target CPT1B

No data available for Transcription Factor Targeting and HOMER Transcription for CPT1B Gene

Localization for CPT1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT1B Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for CPT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005741 mitochondrial outer membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with CPT1B: view

Pathways for CPT1B Gene

genes like me logo Genes that share pathways with CPT1B: view

UniProtKB/Swiss-Prot Q92523-CPT1B_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for CPT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IEA --
GO:0006853 carnitine shuttle TAS --
GO:0008152 metabolic process --
GO:0015909 long-chain fatty acid transport --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with CPT1B: view

Compounds for CPT1B Gene

(132) HMDB Compounds for CPT1B Gene

Compound Synonyms Cas Number PubMed IDs
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Glycerol
  • 1,2,3-Trihydroxypropane
56-81-5
Heptadecanoic acid
  • Heptadecanoate
506-12-7

(11) Novoseek inferred chemical compound relationships for CPT1B Gene

Compound -log(P) Hits PubMed IDs
carnitine 90.2 39
malonyl-coa 74.6 4
etomoxir 71.1 2
acyl-coa 66.1 5
fatty acid 62.9 9
genes like me logo Genes that share compounds with CPT1B: view

Transcripts for CPT1B Gene

Unigene Clusters for CPT1B Gene

Carnitine palmitoyltransferase 1B (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CPT1B Gene

No ASD Table

Relevant External Links for CPT1B Gene

GeneLoc Exon Structure for
CPT1B
ECgene alternative splicing isoforms for
CPT1B

Expression for CPT1B Gene

mRNA expression in normal human tissues for CPT1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPT1B Gene

This gene is overexpressed in Heart - Left Ventricle (7.6) and Heart - Atrial Appendage (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CPT1B Gene

SOURCE GeneReport for Unigene cluster for CPT1B Gene Hs.439777

mRNA Expression by UniProt/SwissProt for CPT1B Gene

Q92523-CPT1B_HUMAN
Tissue specificity: Strong expression in heart and skeletal muscle. No expression in liver and kidney
genes like me logo Genes that share expressions with CPT1B: view

Orthologs for CPT1B Gene

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

Orthologs for CPT1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPT1B 36
  • 99.74 (n)
  • 99.48 (a)
CPT1B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CPT1B 36
  • 87.91 (n)
  • 88.82 (a)
CPT1B 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CPT1B 36
  • 88.04 (n)
  • 90.67 (a)
CPT1B 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cpt1b 36
  • 85.66 (n)
  • 87.05 (a)
Cpt1b 16
Cpt1b 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CPT1B 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPT1B 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cpt1b 36
  • 84.54 (n)
  • 85.75 (a)
lizard
(Anolis carolinensis)
Reptilia CPT1B 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt1b 36
  • 64.32 (n)
  • 65.14 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9513 36
zebrafish
(Danio rerio)
Actinopterygii cpt1b 37
  • 65 (a)
OneToOne
Dr.12241 36
fruit fly
(Drosophila melanogaster)
Insecta whd 37
  • 50 (a)
OneToMany
CPTI 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea cpt-1 37
  • 43 (a)
OneToMany
W01A11.5 38
  • 34 (a)
W03F9.4 38
  • 36 (a)
K11D12.4 38
  • 33 (a)
Y48G9A.10 38
  • 30 (a)
Y46G5A.17 38
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToMany
Species with no ortholog for CPT1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CPT1B Gene

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

Paralogs for CPT1B Gene

Paralogs for CPT1B Gene

Selected SIMAP similar genes for CPT1B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CPT1B: view

Variants for CPT1B Gene

Sequence variations from dbSNP and Humsavar for CPT1B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
VAR_011739 -
VAR_011740 -
VAR_020029 -
VAR_021854 -
VAR_024188 -

Structural Variations from Database of Genomic Variants (DGV) for CPT1B Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914559 CNV Loss 21882294
esv33185 CNV Loss 17666407
nsv914561 CNV Loss 21882294
dgv5068n71 CNV Loss 21882294

Relevant External Links for CPT1B Gene

HapMap Linkage Disequilibrium report
CPT1B
Human Gene Mutation Database (HGMD)
CPT1B

Disorders for CPT1B Gene

(2) Novoseek inferred disease relationships for CPT1B Gene

Disease -log(P) Hits PubMed IDs
carnitine palmitoyltransferase i deficiency 86.4 3
obesity 16.6 1

Relevant External Links for CPT1B

Genetic Association Database (GAD)
CPT1B
Human Genome Epidemiology (HuGE) Navigator
CPT1B
genes like me logo Genes that share disorders with CPT1B: view

No data available for UniProtKB/Swiss-Prot for CPT1B Gene

Publications for CPT1B Gene

  1. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). (PMID: 9070950) Britton C.H. … McGarry J.D. (Genomics 1997) 2 3 4 23
  2. Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I. (PMID: 9199240) van der Leij F.R. … Kuipers J.R.G. (Biochim. Biophys. Acta 1997) 3 4 23
  3. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. (PMID: 9224698) Yamazaki N. … Terada H. (FEBS Lett. 1997) 3 4 23
  4. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M. … Ohara O. (DNA Res. 2001) 3 4 23
  5. 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. (PMID: 17089095) Robitaille J. … Vohl M.C. (J. Mol. Med. 2007) 3 23 49

Products for CPT1B Gene

Sources for CPT1B Gene

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