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Aliases for CPT1B Gene

Aliases for CPT1B Gene

  • Carnitine Palmitoyltransferase 1B 2 3 4 5
  • Carnitine Palmitoyltransferase I-Like Protein 3 4
  • Carnitine Palmitoyltransferase 1B (Muscle) 2 3
  • Carnitine O-Palmitoyltransferase 1B 2 3
  • EC 2.3.1.21 4 61
  • 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
  • KIAA1670 4
  • EC 2.3.1 61
  • M-CPT1 3
  • MCCPT1 3
  • CPT I 4
  • CPT1M 3
  • MCPT1 3
  • CPTI 3

External Ids for CPT1B Gene

Previous GeneCards Identifiers for CPT1B Gene

  • GC22U990008
  • GC22M047513
  • GC22M049140
  • GC22M049143
  • GC22M049145
  • GC22M049299
  • GC22M049300
  • GC22M049354
  • GC22M051008
  • GC22M033899

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) is a Protein Coding gene. Diseases associated with CPT1B include Cpt Deficiency, Hepatic, Type Ia and Visceral Steatosis. Among its related pathways are phosphatidylcholine biosynthesis and Glucagon signaling pathway. GO annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1A.

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

Genomics for CPT1B Gene

Regulatory Elements for CPT1B Gene

Enhancers for CPT1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G050536 2.1 FANTOM5 Ensembl ENCODE dbSUPER 18 +35.0 35002 13.7 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF766 TYMP ODF3B ENSG00000272821 CPT1B SCO2 CHKB SYCE3 LOC105373098 ARSA TUBGCP6
GH22G050619 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.3 -43.2 -43190 3.7 PKNOX1 ATF1 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 ARSA CPT1B CHKB TUBGCP6 SYCE3 MAPK8IP2 HDAC10 NCAPH2 PPP6R2 SBF1
GH22G050581 1 ENCODE 25.1 -3.9 -3863 2.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS CHKB CPT1B MAPK8IP2 CHKB-CPT1B
GH22G050670 1.3 FANTOM5 ENCODE dbSUPER 17.2 -93.7 -93694 3.5 TAF1 MAX UBTF RBBP5 GLIS2 GATA2 POLR2A EGR1 ZNF600 FOS CPT1B SHANK3 CHKB CHKB-AS1 CHKB-CPT1B SYCE3 MAPK8IP2 ACR DENND6B ARSA
GH22G050568 0.9 ENCODE 23.6 +9.2 9208 2.3 ELF3 TBP PKNOX1 ATF1 MLX DMAP1 RAD21 RARA YY1 EGR1 CPT1B ENSG00000272821 MAPK8IP2 CHKB ODF3B GC22M050557 GC22P050570
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPT1B on UCSC Golden Path with GeneCards custom track

Genomic Location for CPT1B Gene

Chromosome:
22
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

Genes around CPT1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPT1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPT1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for CPT1B Gene

Q92523:
  • YLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVV
  • VYHKGRF
  • IKPVMALG
  • EVLSEPW
  • SPDAFVQ
  • YRLAMTG
  • GYGVSYMIAGENT
  • GKFCLTYEASMTR
  • FREGRTETVRSC
  • PMLYSFQTSLP
  • WADAPIIGHLWEFVL
  • GGGFGPVAD
  • FGKGLIKKCRTSPDAF
  • NYVSDWWEE
  • RWFDKSF
  • FFSSGKNK
  • SSSETNA
  • YLESVRP
  • FNTTRIPG

Post-translational modifications for CPT1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for CPT1B
  • Cloud-Clone Corp. Antibodies for CPT1B

Domains & Families for CPT1B Gene

Protein Domains for CPT1B Gene

Graphical View of Domain Structure for InterPro Entry

Q92523

UniProtKB/Swiss-Prot:

CPT1B_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
Family:
  • Belongs to the carnitine/choline acetyltransferase family.
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 TAS --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with CPT1B: view
genes like me logo Genes that share phenotypes with CPT1B: view

Animal Models for CPT1B Gene

MGI Knock Outs for CPT1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for CPT1B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPT1B gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CPT1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,TAS 20833797
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CPT1B: view

Pathways & Interactions 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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA,TAS --
GO:0006810 transport IEA --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with CPT1B: view

No data available for SIGNOR curated interactions for CPT1B Gene

Drugs & Compounds for CPT1B Gene

(14) Drugs for CPT1B Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Experimental Pharma 238
L-Carnitine Approved Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0

(16) Additional Compounds for CPT1B Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
hexadecanoyl-CoA
L-Palmitoylcarnitine
  • (+)-palmitoylcarnitine
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoic acid
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoic acid
2364-67-2

(2) ApexBio Compounds for CPT1B Gene

Compound Action Cas Number
(R)-(+)-Etomoxir sodium salt 828934-41-4
Etomoxir (CPT)-1 and DGAT activity inhibitor 124083-20-1
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x7.6) and Heart - Atrial Appendage (x4.1).

Protein differential expression in normal tissues from HIPED for CPT1B Gene

This gene is overexpressed in Heart (47.2) and Fetal heart (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPT1B Gene



NURSA nuclear receptor signaling pathways regulating expression of CPT1B Gene:

CPT1B

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.

Evidence on tissue expression from TISSUES for CPT1B Gene

  • Muscle(4.6)
  • Heart(4.5)
  • Nervous system(3.1)
  • Liver(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with CPT1B: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT1B Gene

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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia CPT1B 34 35
  • 88.04 (n)
cow
(Bos Taurus)
Mammalia CPT1B 34 35
  • 87.91 (n)
mouse
(Mus musculus)
Mammalia Cpt1b 34 16 35
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Cpt1b 34
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia CPT1B 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPT1B 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPT1B 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt1b 34
  • 64.32 (n)
zebrafish
(Danio rerio)
Actinopterygii cpt1b 35
  • 65 (a)
OneToOne
Dr.12241 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9513 34
fruit fly
(Drosophila melanogaster)
Insecta CPTI 36
  • 50 (a)
whd 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.17 36
  • 45 (a)
cpt-1 35
  • 43 (a)
OneToMany
W03F9.4 36
  • 36 (a)
W01A11.5 36
  • 34 (a)
K11D12.4 36
  • 33 (a)
Y48G9A.10 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
Species where no ortholog for CPT1B was found in the sources mined by GeneCards:
  • 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

(5) 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
rs387907069 Pathogenic 50,579,979(-) AAGAA(C/T)AGCAG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs750764003 Pathogenic 50,580,198(+) TAGTT(A/G/T)TAACT nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs786205118 Pathogenic 50,580,564(-) CTCAG(A/G)TGAGG upstream-variant-2KB, splice-donor-variant
rs1056964 Likely benign 50,579,047(-) CCTGT(A/C/G/T)CCTGA nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs17001634 Likely benign 50,579,085(-) GCTGA(C/G)CCCCC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2758852 CNV loss 17122850
esv33185 CNV loss 17666407
nsv1057656 CNV gain 25217958
nsv1059234 CNV gain 25217958
nsv1160782 CNV deletion 26073780
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv589223 CNV loss 21841781
nsv829340 CNV gain 20364138
nsv834239 CNV loss 17160897
nsv955202 CNV deletion 24416366

Variation tolerance for CPT1B Gene

Residual Variation Intolerance Score: 28.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.09; 93.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPT1B Gene

Human Gene Mutation Database (HGMD)
CPT1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPT1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1B Gene

Disorders for CPT1B Gene

MalaCards: The human disease database

(7) MalaCards diseases for CPT1B Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cpt deficiency, hepatic, type ia
  • carnitine palmitoyltransferase i deficiency
visceral steatosis
  • steatosis of liver
hypersomnia
carnitine palmitoyltransferase ii deficiency
  • carnitine palmitoyltransferase ii deficiency, late-onset
cpt deficiency, hepatic, type ii
  • carnitine palmitoyltransferase ii deficiency, infantile
- elite association - COSMIC cancer census association via MalaCards
Search CPT1B in MalaCards View complete list of genes associated with diseases

Relevant External Links for CPT1B

Genetic Association Database (GAD)
CPT1B
Human Genome Epidemiology (HuGE) Navigator
CPT1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPT1B
genes like me logo Genes that share disorders with CPT1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men. (PMID: 19553926) Miljkovic I. … Zmuda J.M. (Obesity (Silver Spring) 2009) 3 22 46 64
  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. (PMID: 17089095) Robitaille J. … Vohl M.C. (J. Mol. Med. 2007) 3 22 46 64
  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 22 64
  5. 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 22 64

Products for CPT1B Gene

Sources for CPT1B Gene

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