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 56
- 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
External Ids for CPT1B Gene
- HGNC: 2329
- Entrez Gene: 1375
- Ensembl: ENSG00000205560
- OMIM: 601987
- UniProtKB: Q92523
Previous GeneCards Identifiers for CPT1B Gene
- GC22U990008
- GC22M047513
- GC22M049140
- GC22M049143
- GC22M049145
- GC22M049299
- GC22M049300
- GC22M049354
- GC22M051008
- GC22M033899
Summaries 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 Visceral Steatosis. Among its related pathways are Metabolism 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
- Monarch Initiative
- Search for CPT1B at DataMed
- Search for CPT1B at HumanCyc
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
- Top Transcription factor binding sites by QIAGEN in the CPT1B gene promoter:
Regulatory Element Products
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)
Genomic View for CPT1B Gene
- Cytogenetic band:
-
- 22q13.33 by Ensembl
- 22q13.33 by Entrez Gene
- 22q13.33 by HGNC


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
- 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};
Protein Expression 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
Other Protein References for CPT1B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CPT1B
- Novus Biologicals Antibodies for CPT1B
-
Abcam antibodies for CPT1B
-
Cloud-Clone Corp. Antibodies for CPT1B
- Invitrogen Antibodies for CPT1B
- GeneTex CPT1B antibody for CPT1B
-
Santa Cruz Biotechnology (SCBT) Antibodies for CPT1B
- Sino Biological Antibodies for CPT1B
Protein Products
-
OriGene Purified Proteins for CPT1B
- Search Origene for MassSpec and Protein Over-expression Lysates for CPT1B
- Origene Custom Protein Services for CPT1B
- Sino Biological Recombinant Proteins for CPT1B
- Sino Biological Cell Lysates for CPT1B
-
Cloud-Clone Corp. Proteins for CPT1B
- Search GeneTex for Proteins for CPT1B
-
Abcam proteins for CPT1B
Assay Products
-
Cloud-Clone Corp. Assay Kits for CPT1B
Domains & Families for CPT1B Gene
Gene Families for CPT1B Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for CPT1B Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CPT1B Gene
Graphical View of Domain Structure for InterPro Entry
Q92523- Family:
-
- Belongs to the carnitine/choline acetyltransferase family.
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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for CPT1B Gene
- MGI mutant phenotypes for CPT1B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CPT1B:
Animal Models for CPT1B Gene
- MGI Knock Outs for CPT1B:
-
- Cpt1b tm1You
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CPT1B
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CPT1B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CPT1B gene
- Search ViGene Biosciences for CPT1B
CRISPR Products
-
OriGene CRISPR knockouts for CPT1B
- genomics-online: gRNA clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- Applied Biological Materials CRISPR for CPT1B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT1B
- GenScript: Design CRISPR guide RNA sequences for CPT1B
miRNA for CPT1B Gene
- miRTarBase miRNAs that target CPT1B
-
- hsa-mir-335-5p (MIRT017237)
- hsa-mir-1229-3p (MIRT036268)
- hsa-mir-4668-5p (MIRT646343)
- hsa-mir-3074-5p (MIRT646344)
- hsa-mir-5006-3p (MIRT646345)
- hsa-mir-4755-5p (MIRT646346)
- hsa-mir-211-5p (MIRT646347)
- hsa-mir-204-5p (MIRT646348)
- hsa-mir-623 (MIRT646349)
- hsa-mir-3667-3p (MIRT646350)
- hsa-mir-6893-3p (MIRT646351)
- hsa-mir-370-3p (MIRT646352)
- hsa-mir-8063 (MIRT646353)
- hsa-mir-4698 (MIRT646354)
- hsa-mir-3938 (MIRT646355)
- hsa-mir-551b-5p (MIRT646356)
- hsa-mir-548c-3p (MIRT646357)
miRNA Products
- Search ViGene Biosciences for CPT1B
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for CPT1B
- Browse OriGene Inhibitory RNA Products For CPT1B
- genomics-online: shRNA clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for CPT1B gene
Clone Products
-
OriGene ORF clones in human for CPT1B
- RC227244L1V
- RC227244L2V
- RC227262L1V
- RC227262L2V
- RC227280L1V
- RC227280L2V
- RC227313L1V
- RC227313L2V
- RC217297L1V
- RC217297L2V
- RC214823L1V
- RC214823L2V
- RC222144L1V
- RC222144L2V
- RC227244
- RC227244L1
- RC227244L2
- RG227244
- RC227262
- RC227262L1
- RC227262L2
- RG227262
- RC227280
- RC227280L1
- RG222144
- RC222144L2
- RC222144L1
- RC222144
- RG214823
- RC214823L2
- RC214823L1
- RC214823
- RG217297
- RC217297L2
- RC217297L1
- RC217297
- RG227313
- RC227313L2
- RC227313L1
- RC227313
- RG227280
- RC227280L2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CPT1B
- Sino Biological Human cDNA Clone for CPT1B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CPT1B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CPT1B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- orf clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- Applied Biological Materials Clones for CPT1B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CPT1B
-
ViGene Biosciences adenoviral particle packaged cDNA for CPT1B gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CPT1B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CPT1B gene
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.
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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPT1B Gene
Pathways & Interactions for CPT1B Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | AMP-activated Protein Kinase (AMPK) Signaling | ||
2 | Fatty acid metabolism | ||
3 | AMPK Enzyme Complex Pathway | ||
4 | Metabolism |
.37
|
|
5 | Adipocytokine signaling pathway |
Pathways by source for CPT1B Gene
1 Sino Biological pathway for CPT1B Gene
6 BioSystems pathways for CPT1B Gene
7 KEGG pathways for CPT1B Gene
2 GeneGo (Thomson Reuters) pathways for CPT1B Gene
1 Qiagen pathway for CPT1B Gene
UniProtKB/Swiss-Prot Q92523-CPT1B_HUMAN
- Pathway: Lipid metabolism; fatty acid beta-oxidation.
Interacting Proteins 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 | TAS,IEA | -- |
GO:0006810 | transport | IEA | -- |
GO:0006853 | carnitine shuttle | TAS | -- |
No data available for SIGNOR curated interactions for CPT1B Gene
Drugs & Compounds for CPT1B Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Arachidic acid |
|
506-30-9 |
|
|||
Heptadecanoic acid |
|
506-12-7 |
|
|||
Heptadecanoyl CoA |
|
3546-17-6 |
|
|||
hexadecanoyl-CoA |
|
|
|
|||
L-Palmitoylcarnitine |
|
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 |
Transcripts for CPT1B Gene
mRNA/cDNA for CPT1B Gene
- (8) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (312) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CPT1B Gene
CRISPR Products
-
OriGene CRISPR knockouts for CPT1B
- genomics-online: gRNA clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- Applied Biological Materials CRISPR for CPT1B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT1B
- GenScript: Design CRISPR guide RNA sequences for CPT1B
miRNA Products
- Search ViGene Biosciences for CPT1B
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for CPT1B
- Browse OriGene Inhibitory RNA Products For CPT1B
- genomics-online: shRNA clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
-
ViGene Biosciences ready-to-package AAV shRNAs for CPT1B gene
Clone Products
-
OriGene ORF clones in human for CPT1B
- RC227244L1V
- RC227244L2V
- RC227262L1V
- RC227262L2V
- RC227280L1V
- RC227280L2V
- RC227313L1V
- RC227313L2V
- RC217297L1V
- RC217297L2V
- RC214823L1V
- RC214823L2V
- RC222144L1V
- RC222144L2V
- RC227244
- RC227244L1
- RC227244L2
- RG227244
- RC227262
- RC227262L1
- RC227262L2
- RG227262
- RC227280
- RC227280L1
- RG222144
- RC222144L2
- RC222144L1
- RC222144
- RG214823
- RC214823L2
- RC214823L1
- RC214823
- RG217297
- RC217297L2
- RC217297L1
- RC217297
- RG227313
- RC227313L2
- RC227313L1
- RC227313
- RG227280
- RC227280L2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CPT1B
- Sino Biological Human cDNA Clone for CPT1B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CPT1B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CPT1B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- orf clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
- Applied Biological Materials Clones for CPT1B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
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:
CPT1BSOURCE GeneReport for Unigene cluster for CPT1B Gene:
Hs.439777mRNA Expression by UniProt/SwissProt for CPT1B Gene:
Q92523-CPT1B_HUMANEvidence on tissue expression from TISSUES for CPT1B Gene
- Muscle(4.6)
- Heart(4.5)
- Nervous system(3.1)
- Liver(2.3)
- Skin(2)
Primer Products
-
OriGene qPCR primer pairs for CPT1B
- genomics-online: primer clones - Search results for 193 available CPT1B gene related products
- Overview of 193 available CPT1B gene related products
-
Recommended
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CPT1B 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | CPT1B 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | CPT1B 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Cpt1b 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cpt1b 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | CPT1B 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | CPT1B 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CPT1B 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cpt1b 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | cpt1b 34 |
|
OneToOne | |
Dr.12241 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9513 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CPTI 35 |
|
|
|
whd 34 |
|
OneToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | Y46G5A.17 35 |
|
|
|
cpt-1 34 |
|
OneToMany | |||
W03F9.4 35 |
|
|
|||
W01A11.5 35 |
|
|
|||
K11D12.4 35 |
|
|
|||
Y48G9A.10 35 |
|
|
|||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CKI1 36 |
|
|
|
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for CPT1B Gene
(5) SIMAP similar genes for CPT1B Gene using alignment to 6 proteins:
Variants 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 |
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 |
Additional Variant Information for CPT1B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1B Gene
Disorders for CPT1B Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
carnitine palmitoyltransferase i deficiency |
|
|
visceral steatosis |
|
|
hypersomnia |
|
|
chronic recurrent multifocal osteomyelitis |
|
|
carnitine palmitoyltransferase ii deficiency, infantile |
|
|
Additional Disease Information for CPT1B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CPT1B Gene
Publications for CPT1B Gene
- 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
- 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
- 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
- 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
- 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
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- antibodies-online: Search results for 118 available CPT1B Antibodies ranked by validation data
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Sources for CPT1B Gene
- (1) GeneCards
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- (3) EntrezGene
- (4) Swiss-Prot
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- (8) Gene Wiki
- (9) UCSC
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (60) TGDB
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (84) Vector BioLabs
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- (91) Illumina
- (92) COMPARTMENTS
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