Aliases for CPT1A Gene
Aliases for CPT1A Gene
External Ids for CPT1A Gene
- HGNC: 2328
- Entrez Gene: 1374
- Ensembl: ENSG00000110090
- OMIM: 600528
- UniProtKB: P50416
Previous HGNC Symbols for CPT1A Gene
- CPT1
Previous GeneCards Identifiers for CPT1A Gene
- GC11M071048
- GC11M070218
- GC11M068300
- GC11M068279
- GC11M068524
- GC11M064859
Summaries for CPT1A Gene
-
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CPT1A Gene
CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine Palmitoyltransferase Ii Deficiency, Infantile. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.
UniProtKB/Swiss-Prot for CPT1A Gene
-
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
Additional gene information for CPT1A Gene
- Monarch Initiative
- Search for CPT1A at DataMed
- Search for CPT1A at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT1A Gene
Genomics for CPT1A Gene
GeneHancer (GH) Regulatory Elements for CPT1A Gene
Promoters and enhancers for CPT1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CPT1A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CPT1A gene promoter:
-
- AP-2alpha
- AP-2alpha isoform 3
- AP-2alpha isoform 2
Regulatory Element Products
Genomic Locations for CPT1A Gene
Genomic Locations for CPT1A Gene
- chr11:68,754,620-68,844,410
- (GRCh38/hg38)
- Size:
- 89,791 bases
- Orientation:
- Minus strand
- chr11:68,522,088-68,611,878
- (GRCh37/hg19)
- Size:
- 89,791 bases
- Orientation:
- Minus strand
Genomic View for CPT1A Gene
Genes around CPT1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.3 by Entrez Gene
- 11q13.3 by HGNC
- 11q13.3 by Ensembl
CPT1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CPT1A Gene
Proteins for CPT1A Gene
-
Protein details for CPT1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P50416-CPT1A_HUMAN
- Recommended name:
- Carnitine O-palmitoyltransferase 1, liver isoform
- Protein Accession:
- P50416
- Q8TCU0
- Q9BWK0
Protein attributes for CPT1A Gene
- Size:
- 773 amino acids
- Molecular mass:
- 88368 Da
- Quaternary structure:
-
- Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 (By similarity).
Protein Expression for CPT1A Gene
Post-translational modifications for CPT1A Gene
Other Protein References for CPT1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CPT1A
- Novus Biologicals Antibodies for CPT1A
-
Abcam antibodies for CPT1A
- Invitrogen Antibodies for CPT1A (AFLGC-CPT1A)
- GeneTex CPT1A Antibody for CPT1A
-
Boster Bio Antibodies for CPT1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for CPT1A
Protein Products
-
OriGene Purified Proteins for CPT1A
- Search Origene for MassSpec and Protein Over-expression Lysates for CPT1A
- Origene Custom Protein Services for CPT1A
- Search GeneTex for Proteins for CPT1A
-
Abcam proteins for CPT1A
Assay Products
No data available for DME Specific Peptides for CPT1A Gene
Domains & Families for CPT1A Gene
Gene Families for CPT1A Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for CPT1A Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CPT1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P50416UniProtKB/Swiss-Prot:
CPT1A_HUMAN :- A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
- Belongs to the carnitine/choline acetyltransferase family.
- Domain:
-
- A conformation change in the N-terminal region spanning the first 42 residues plays an important role in the regulation of enzyme activity by malonyl-CoA.
- Family:
-
- Belongs to the carnitine/choline acetyltransferase family.
Function for CPT1A Gene
Molecular function for CPT1A Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by malonyl-CoA.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by fatty acids.
- GENATLAS Biochemistry:
- carnitine palmitoyltransferase of the outer mitochondrial membrane 1A,88kDa,malonyl CoA sensitive,liver isoform,generating palmitoylcarnitine and CoAsH (palmitoyl-CoA shuttle system)
Enzyme Numbers (IUBMB) for CPT1A Gene
Phenotypes From GWAS Catalog for CPT1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004095 | carnitine O-palmitoyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
| GO:1990698 | palmitoleoyltransferase activity | IEA | -- |
Phenotypes for CPT1A Gene
- MGI mutant phenotypes for CPT1A:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CPT1A:
Animal Models for CPT1A Gene
- MGI Knock Outs for CPT1A:
-
- Cpt1a Cpt1a<tm1Pwo>
Animal Model Products
-
Taconic Biosciences Mouse Models for CPT1A
- Cyagen custom Knockout/knockin (KOKI) mouse models for CPT1A
-
CRISPR Products
-
OriGene CRISPR knockouts for CPT1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT1A
- genomics-online: gRNA clones - Search results for 110 available CPT1A gene related products
- Overview of 110 available CPT1A gene related products
- Applied Biological Materials CRISPR for CPT1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT1A
- GenScript: Design CRISPR guide RNA sequences for CPT1A
miRNA for CPT1A Gene
- miRTarBase miRNAs that target CPT1A
-
- hsa-mir-370-3p (MIRT004535)
- hsa-mir-155-5p (MIRT020838)
- hsa-mir-16-5p (MIRT031747)
- hsa-mir-197-3p (MIRT048093)
- hsa-mir-5581-3p (MIRT538397)
- hsa-mir-6716-5p (MIRT538398)
- hsa-mir-1298-5p (MIRT538399)
- hsa-mir-194-3p (MIRT538400)
- hsa-mir-1324 (MIRT538401)
- hsa-mir-6789-3p (MIRT637837)
- hsa-mir-4707-3p (MIRT637838)
- hsa-mir-4258 (MIRT637839)
- hsa-mir-153-5p (MIRT637840)
- hsa-mir-1250-3p (MIRT637841)
- hsa-mir-129-5p (MIRT659384)
- hsa-mir-7151-3p (MIRT659385)
- hsa-mir-5095 (MIRT659386)
- hsa-mir-4438 (MIRT659387)
- hsa-mir-5089-5p (MIRT688663)
- hsa-mir-6878-3p (MIRT688664)
- hsa-mir-6744-3p (MIRT688665)
- hsa-mir-4757-5p (MIRT688666)
- hsa-mir-5589-5p (MIRT688667)
- hsa-mir-4731-5p (MIRT688668)
- hsa-mir-6778-3p (MIRT688669)
- hsa-mir-6506-5p (MIRT688670)
- hsa-mir-619-5p (MIRT688671)
- hsa-mir-150-5p (MIRT688672)
- hsa-mir-212-5p (MIRT688673)
- hsa-mir-186-3p (MIRT688674)
- hsa-mir-520h (MIRT688675)
- hsa-mir-520g-3p (MIRT688676)
- hsa-mir-512-3p (MIRT688677)
- hsa-mir-93-5p (MIRT688678)
- hsa-mir-526b-3p (MIRT688679)
- hsa-mir-519d-3p (MIRT688680)
- hsa-mir-20b-5p (MIRT688681)
- hsa-mir-20a-5p (MIRT688682)
- hsa-mir-17-5p (MIRT688683)
- hsa-mir-106b-5p (MIRT688684)
- hsa-mir-106a-5p (MIRT688685)
- hsa-mir-520e (MIRT704466)
- hsa-mir-520d-3p (MIRT704467)
- hsa-mir-520c-3p (MIRT704468)
- hsa-mir-520b (MIRT704469)
- hsa-mir-520a-3p (MIRT704470)
- hsa-mir-372-3p (MIRT704471)
- hsa-mir-373-3p (MIRT704472)
- hsa-mir-302e (MIRT704473)
- hsa-mir-302d-3p (MIRT704474)
- hsa-mir-302c-3p (MIRT704475)
- hsa-mir-302a-3p (MIRT704476)
- hsa-mir-302b-3p (MIRT704477)
- hsa-mir-7162-3p (MIRT704478)
- hsa-mir-4786-5p (MIRT704479)
- hsa-mir-544b (MIRT704480)
- hsa-mir-6849-3p (MIRT704481)
- hsa-mir-4459 (MIRT704482)
- hsa-mir-4433a-3p (MIRT704483)
- hsa-mir-4768-3p (MIRT704484)
- hsa-mir-3622b-3p (MIRT704485)
- hsa-mir-3622a-3p (MIRT704486)
- hsa-mir-1272 (MIRT704487)
- hsa-mir-1322 (MIRT704488)
- hsa-mir-4293 (MIRT704489)
- hsa-mir-4517 (MIRT704490)
- hsa-mir-4322 (MIRT725559)
- hsa-mir-4296 (MIRT725560)
- hsa-mir-4265 (MIRT725561)
- hsa-mir-6514-3p (MIRT725562)
- hsa-mir-4666b (MIRT725563)
- hsa-mir-7977 (MIRT725564)
- hsa-mir-4417 (MIRT725565)
- hsa-mir-6781-5p (MIRT725566)
- hsa-mir-6877-5p (MIRT725567)
- hsa-mir-24-3p (MIRT725568)
- hsa-mir-4284 (MIRT725569)
- hsa-mir-6847-3p (MIRT725570)
- hsa-mir-6811-3p (MIRT725571)
- hsa-mir-214-5p (MIRT725572)
- hsa-mir-6869-3p (MIRT725573)
- hsa-mir-299-3p (MIRT725574)
- hsa-mir-33a-5p (MIRT731519)
miRNA Products
- SwitchGear CPT1A 3' UTR sequence
- SwitchGear CPT1A 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT1A
- Browse OriGene Inhibitory RNA Products For CPT1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT1A
- genomics-online: shRNA clones - Search results for 110 available CPT1A gene related products
- Overview of 110 available CPT1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for CPT1A
- Addgene plasmids for CPT1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPT1A
- Applied Biological Materials Clones for CPT1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CPT1A
No data available for Transcription Factor Targets and HOMER Transcription for CPT1A Gene
Localization for CPT1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for CPT1A Gene
- Mitochondrion outer membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| peroxisome | 4 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| extracellular | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | TAS,IDA | 11350182 |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CPT1A Gene
Pathways by source for CPT1A Gene
1 Sino Biological pathway for CPT1A Gene
8 BioSystems pathways for CPT1A Gene
10 Reactome pathways for CPT1A Gene
8 KEGG pathways for CPT1A Gene
1 GeneGo (Thomson Reuters) pathway for CPT1A Gene
1 Qiagen pathway for CPT1A Gene
1 Cell Signaling Technology pathway for CPT1A Gene
UniProtKB/Swiss-Prot P50416-CPT1A_HUMAN
- Pathway: Lipid metabolism; fatty acid beta-oxidation.
Interacting Proteins for CPT1A Gene
Selected Interacting proteins:
P50416-CPT1A_HUMAN
ENSP00000265641
for CPT1A Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for CPT1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001676 | long-chain fatty acid metabolic process | IDA | 11350182 |
| GO:0006006 | glucose metabolic process | IEA | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006635 | fatty acid beta-oxidation | TAS,IEA | -- |
No data available for SIGNOR curated interactions for CPT1A Gene
Drugs & Compounds for CPT1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Perhexiline | Approved, Investigational | Pharma | inhibitor, Target | 8 | ||
| L-Carnitine | Approved, Investigational | Pharma | Target, activator | 0 | ||
| Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inhibitor | Kir6 (KATP) channel blocker | 116 | |
| Glycerol | Approved, Investigational | Pharma | 175 | |||
| Coenzyme A | Investigational | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| hexadecanoyl-CoA |
|
|
|
|||
| L-Palmitoylcarnitine |
|
2364-67-2 |
|
|||
| Palmityl-CoA |
|
1763-10-6 |
|
|||
| Triglycerides Group A |
|
|
||||
| Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 |
|
Drug Products
Transcripts for CPT1A Gene
mRNA/cDNA for CPT1A Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (130) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000540367 2496 bps (uc058eon.1)
- ENST00000265641 5232 bps (uc001oog.5)
- ENST00000539743 2382 bps (uc058eoo.1)
- ENST00000537756 585 bps (uc058eop.1)
- ENST00000538994 617 bps (uc058eoq.1)
Unigene Clusters for CPT1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for CPT1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CPT1A
- genomics-online: gRNA clones - Search results for 110 available CPT1A gene related products
- Overview of 110 available CPT1A gene related products
- Applied Biological Materials CRISPR for CPT1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CPT1A
- GenScript: Design CRISPR guide RNA sequences for CPT1A
miRNA Products
- SwitchGear CPT1A 3' UTR sequence
- SwitchGear CPT1A 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CPT1A
- Browse OriGene Inhibitory RNA Products For CPT1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPT1A
- genomics-online: shRNA clones - Search results for 110 available CPT1A gene related products
- Overview of 110 available CPT1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for CPT1A
- Addgene plasmids for CPT1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CPT1A
- Applied Biological Materials Clones for CPT1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CPT1A Gene
This gene is overexpressed in Nasal epithelium (13.6) and Peripheral blood mononuclear cells (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPT1A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CPT1A Gene:
CPT1ASOURCE GeneReport for Unigene cluster for CPT1A Gene:
Hs.503043mRNA Expression by UniProt/SwissProt for CPT1A Gene:
P50416-CPT1A_HUMAN
Tissue specificity:
Strong expression in kidney and heart, and lower in liver and skeletal muscle.
Evidence on tissue expression from TISSUES for CPT1A Gene
- Liver(4.7)
- Eye(4.3)
- Heart(2.6)
- Blood(2.4)
- Muscle(2.4)
- Intestine(2.3)
- Kidney(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CPT1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
Thorax:
- heart
- heart valve
Abdomen:
- adrenal gland
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for CPT1A
-
OriGene qPCR primer pairs and template standards for CPT1A
- genomics-online: primer clones - Search results for 110 available CPT1A gene related products
- Overview of 110 available CPT1A gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CPT1A Gene
Orthologs for CPT1A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CPT1A 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CPT1A 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CPT1A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CPT1A 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CPT1A 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cpt1a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cpt1a 33 |
|
||
| chicken (Gallus gallus) |
Aves | CPT1A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CPT1A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490391 33 |
|
||
| Str.5281 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53498 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CPT1A (3 of 3) 34 |
|
OneToMany | |
| cpt1a 34 |
|
OneToMany | |||
| si:ch211-236l14.3 33 |
|
||||
| CABZ01055343.2 34 |
|
OneToMany | |||
| 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 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.3088 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3088 33 |
|
- Species where no ortholog for CPT1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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 CPT1A Gene
- ENSEMBL:
- Gene Tree for CPT1A (if available)
- TreeFam:
- Gene Tree for CPT1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CPT1A: view image
Paralogs for CPT1A Gene
Variants for CPT1A Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1055176086 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,799,217(-) | C/G | splice_donor_variant | |
| rs1057516304 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,781,825(-) | T/ | coding_sequence_variant, frameshift | |
| rs1057516396 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,793,363(-) | G/A | coding_sequence_variant, stop_gained | |
| rs1057516434 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,812,532(-) | C/T | coding_sequence_variant, stop_gained | |
| rs1057516586 | likely-pathogenic, Carnitine palmitoyltransferase I deficiency | 68,773,294(-) | G/A | coding_sequence_variant, stop_gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2664873 | CNV | deletion | 23128226 |
| esv2744667 | CNV | deletion | 23290073 |
| esv3626741 | CNV | loss | 21293372 |
| nsv1122639 | CNV | deletion | 24896259 |
| nsv1133169 | CNV | tandem duplication | 24896259 |
| nsv1134152 | CNV | deletion | 24896259 |
| nsv1144574 | CNV | deletion | 24896259 |
| nsv373 | CNV | deletion | 18451855 |
| nsv428261 | CNV | gain | 18775914 |
| nsv509422 | CNV | insertion | 20534489 |
| nsv825967 | CNV | loss | 20364138 |
| nsv825968 | CNV | loss | 20364138 |
| nsv825969 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.79;
58.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CPT1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT1A Gene
Disorders for CPT1A Gene
(6) MalaCards diseases for CPT1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| carnitine palmitoyltransferase i deficiency |
|
|
| carnitine palmitoyltransferase ii deficiency, infantile |
|
|
| carnitine-acylcarnitine translocase deficiency |
|
|
| visceral steatosis |
|
|
| hypoglycemia |
|
Search CPT1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CPT1A_HUMAN- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood. {ECO:0000269 PubMed:11350182, ECO:0000269 PubMed:11441142, ECO:0000269 PubMed:12111367, ECO:0000269 PubMed:12189492, ECO:0000269 PubMed:14517221, ECO:0000269 PubMed:15110323, ECO:0000269 PubMed:15669684, ECO:0000269 PubMed:9691089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for CPT1A Gene
non ketotic hypoglycemia,infant form,Reye-like syndrome,sudden infant death syndrome
Additional Disease Information for CPT1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for CPT1A Gene
- Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. (PMID: 14711372) Morillas M … Asins G (The Biochemical journal 2004) 3 4 22 25 58
- Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. (PMID: 7892212) Britton CH … McGarry JD (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 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
- Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus. (PMID: 17445541) Hirota Y … Kasuga M (Metabolism: clinical and experimental 2007) 3 22 44 58
- Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C. (PMID: 16697732) Huang H … Wright TL (Gastroenterology 2006) 3 22 44 58
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Sources for CPT1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
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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
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- (58) PubMed
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- (64) ProSpec
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- (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
- (83) BitterDB
- (84) Vector BioLabs
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- (92) COMPARTMENTS
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- (96) Addgene
- (97) antibodies-online
- (98) CYP
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- (100) SwitchGear Genomics
- (101) TreeFam
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- (104) GeneTex
- (105) Taconic Biosciences
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- (110) ClinicalTrials
- (111)