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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
  • 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
  • EC 2.3.1.21 4
  • KIAA1670 4
  • M-CPT1 3
  • MCCPT1 3
  • CPT1M 3
  • MCPT1 3
  • CPT I 4
  • 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 Carnitine Palmitoyltransferase I Deficiency and Muscular Dystrophy, Congenital, Megaconial Type. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (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.

Additional gene information for CPT1B Gene

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

GeneHancer (GH) Regulatory Elements for CPT1B Gene

Promoters and enhancers for CPT1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J050568 Promoter/Enhancer 1.3 EPDnew ENCODE 673.6 +9.2 9208 2.3 ELF3 PKNOX1 ATF1 FOXA2 MLX DMAP1 RAD21 RARA ETS1 YY1 CPT1B GC22P050570 GC22M050557 ENSG00000272821 MAPK8IP2 CHKB ODF3B CHKB-CPT1B
GH22J050577 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 675.9 -0.1 -135 2.4 RXRA ZNF341 ZIC2 RUNX3 EGR2 CPT1B PIR46612 MAPK8IP2 CHKB NCAPH2 LMF2 ARSA PLXNB2 ODF3B CHKB-CPT1B
GH22J050572 Promoter 0.6 EPDnew 650.4 +6.6 6599 0.1 SCRT2 GC22P050570 CPT1B PIR46612 CHKB-CPT1B
GH22J050576 Promoter 0.5 EPDnew 650.7 +1.7 1694 0.1 PIR46612 CPT1B CHKB MAPK8IP2 NCAPH2 LMF2 ARSA PLXNB2 CHKB-CPT1B
GH22J050581 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 25.1 -3.9 -3863 2.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 FOS CHKB CHKB-DT CHKB-CPT1B CPT1B MAPK8IP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPT1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPT1B gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CPT1B Gene

Genomic Locations for CPT1B Gene
chr22:50,568,861-50,578,667
(GRCh38/hg38)
Size:
9,807 bases
Orientation:
Minus strand
chr22:51,007,290-51,017,899
(GRCh37/hg19)
Size:
10,610 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

Post-translational modifications for CPT1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CPT1B Gene

Domains & Families for CPT1B Gene

Gene Families for CPT1B Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

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

Function for CPT1B Gene

Molecular function for CPT1B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
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)

Enzyme Numbers (IUBMB) for CPT1B Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT1B

Clone 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 HDA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPT1B Gene

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:0006853 carnitine shuttle TAS --
GO:0015909 long-chain fatty acid transport IEA --
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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 175
L-Carnitine Approved, Investigational Pharma 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Myristic 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
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
L-Palmitoylcarnitine
  • (3R)-3-(Hexadecanoyloxy)-4-(trimethylazaniumyl)butanoate
  • (3R)-3-Palmitoyloxy-4-(trimethylammonio)butanoate
  • Hexadecanoyl-L-carnitine
  • Hexadecanoylcarnitine
  • Hexadecenoyl carnitine
2364-67-2
genes like me logo Genes that share compounds with CPT1B: view

Transcripts for CPT1B Gene

mRNA/cDNA for CPT1B Gene

Unigene Clusters for CPT1B Gene

Carnitine palmitoyltransferase 1B (muscle):
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT1B

Clone 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, 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(2.3)
  • Blood(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with CPT1B: view

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 33
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CPT1B 34 33
  • 88.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CPT1B 34 33
  • 87.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cpt1b 16 34 33
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Cpt1b 33
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia CPT1B 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPT1B 34
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPT1B 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt1b 33
  • 64.32 (n)
zebrafish
(Danio rerio)
Actinopterygii cpt1b 34
  • 65 (a)
OneToOne
Dr.12241 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9513 33
fruit fly
(Drosophila melanogaster)
Insecta whd 34
  • 50 (a)
OneToMany
CPTI 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea Y46G5A.17 35
  • 45 (a)
cpt-1 34
  • 43 (a)
OneToMany
W03F9.4 35
  • 36 (a)
W01A11.5 35
  • 34 (a)
K11D12.4 35
  • 33 (a)
Y48G9A.10 35
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CKI1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CPT1B: view image

Paralogs for CPT1B Gene

Paralogs for CPT1B Gene

(5) SIMAP similar genes for CPT1B Gene using alignment to 6 proteins:

  • CPT1B_HUMAN
  • A2RRE8_HUMAN
  • A5PLL0_HUMAN
  • C9J7C3_HUMAN
  • H7C0S1_HUMAN
  • K7N7A7_HUMAN
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 Variation AA Info Type
rs1056964 likely-benign, Congenital Muscular Dystrophy, CHKB-related 50,579,047(-) A/C/G/T upstream_transcript_variant
rs112742765 uncertain-significance, Congenital Muscular Dystrophy, CHKB-related 50,579,055(-) G/A/C upstream_transcript_variant
rs141381896 likely-benign, conflicting-interpretations-of-pathogenicity, benign, not provided, not specified, Muscular dystrophy, congenital, megaconial type 50,579,775(-) T/C upstream_transcript_variant
rs141934594 uncertain-significance, likely-benign, Congenital Muscular Dystrophy, CHKB-related, not specified 50,580,386(-) G/A upstream_transcript_variant
rs147485527 uncertain-significance, Muscular dystrophy, congenital, megaconial type 50,579,999(-) G/A upstream_transcript_variant

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)

Additional Variant Information for CPT1B Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CPT1B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
carnitine palmitoyltransferase i deficiency
  • carnitine palmitoyltransferase ia deficiency
muscular dystrophy, congenital, megaconial type
  • mdcmc
visceral steatosis
  • fatty metamorphosis of viscera
hypersomnia
chronic recurrent multifocal osteomyelitis
  • crmo
- elite association - COSMIC cancer census association via MalaCards
Search CPT1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPT1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CH … McGarry JD (Genomics 1997) 2 3 4 22 58
  2. Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men. (PMID: 19553926) Miljkovic I … Zmuda JM (Obesity (Silver Spring, Md.) 2009) 3 22 44 58
  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 MC (Journal of molecular medicine (Berlin, Germany) 2007) 3 22 44 58
  4. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 22 58
  5. Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I. (PMID: 9199240) van der Leij FR … Kuipers JR (Biochimica et biophysica acta 1997) 3 4 22 58

Products for CPT1B Gene

Sources for CPT1B Gene

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