Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1374
Gene name Gene Name - the full gene name approved by the HGNC.
Carnitine palmitoyltransferase 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPT1A
Synonyms (NCBI Gene) Gene synonyms aliases
CPT I, CPT1, CPT1-L, CPTI-L, L-CPT1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28936374 C>T Pathogenic Coding sequence variant, missense variant
rs80356774 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs80356775 G>A Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs80356776 G>A Pathogenic Missense variant, coding sequence variant
rs80356777 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004535 hsa-miR-370-3p Luciferase reporter assay, qRT-PCR, Western blot 20124555
MIRT020838 hsa-miR-155-5p Proteomics 18668040
MIRT031747 hsa-miR-16-5p Proteomics 18668040
MIRT048093 hsa-miR-197-3p CLASH 23622248
MIRT725574 hsa-miR-299-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
PPARA Repression 17150915
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001676 Process Long-chain fatty acid metabolic process IDA 11350182
GO:0004095 Function Carnitine O-palmitoyltransferase activity IBA 21873635
GO:0004095 Function Carnitine O-palmitoyltransferase activity IDA 7892212, 11350182
GO:0004095 Function Carnitine O-palmitoyltransferase activity IMP 9691089, 14517221
GO:0005739 Component Mitochondrion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600528 2328 ENSG00000110090
Protein
UniProt ID P50416
Protein name Carnitine O-palmitoyltransferase 1, liver isoform (CPT1-L) (EC 2.3.1.21) (Carnitine O-palmitoyltransferase I, liver isoform) (CPT I) (CPTI-L) (Carnitine palmitoyltransferase 1A) (Succinyltransferase CPT1A) (EC 2.3.1.-)
Protein 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 (PubMed:11350182,
PDB 2LE3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16484 CPT_N 1 47 Carnitine O-palmitoyltransferase N-terminus Domain
PF00755 Carn_acyltransf 171 762 Choline/Carnitine o-acyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Strong expression in kidney and heart, and lower in liver and skeletal muscle.
Sequence
Sequence length 773
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid degradation
Fatty acid metabolism
PPAR signaling pathway
Efferocytosis
AMPK signaling pathway
Thermogenesis
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Alcoholic liver disease
  RORA activates gene expression
PPARA activates gene expression
Carnitine metabolism
Signaling by Retinoic Acid
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
25151356
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
25151356
Carnitine palmitoyl transferase deficiency Carnitine palmitoyl transferase 1A deficiency rs74315293, rs74315294, rs28936375, rs28936673, rs28936674, rs74315295, rs74315296, rs1557713988, rs74315298, rs74315299, rs74315300, rs121918528, rs80356778, rs80356787, rs80356774
View all (111 more)
12111367, 12189492, 27066452, 11350183, 15669684, 11441142, 9691089, 15363638, 11350182, 16146704, 20696606, 7892212, 7014807, 14517221, 21962599
View all (2 more)
Diabetes mellitus Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
19233164, 16123366
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Injuries Associate 28947923
Alzheimer Disease Associate 34757660, 37891690
Aortic Valve Disease Associate 27250500
Arthritis Rheumatoid Stimulate 35273614
Atherosclerosis Associate 19181627, 25935004
Breast Neoplasms Associate 21294903, 25151356, 25751270, 26799588, 30092766, 34045663, 36632454, 36735704, 36782224, 37803002, 40715365
Breast Neoplasms Stimulate 36180554
Carcinogenesis Associate 30016793
Carcinoma Hepatocellular Associate 30016793, 34981667, 36308411
Carcinoma Renal Cell Associate 35633317, 37033923