Gene Gene information from NCBI Gene database.
Entrez ID 1374
Gene name Carnitine palmitoyltransferase 1A
Gene symbol CPT1A
Synonyms (NCBI Gene)
CPT ICPT1CPT1-LCPTI-LL-CPT1
Chromosome 11
Chromosome location 11q13.3
Summary 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.
64
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.
1112
miRTarBase ID miRNA Experiments Reference
MIRT004535 hsa-miR-370-3p Luciferase reporter assayqRT-PCRWestern 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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARA Repression 17150915
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001676 Process Long-chain fatty acid metabolic process IDA 11350182
GO:0001676 Process Long-chain fatty acid metabolic process IEA
GO:0002753 Process Cytoplasmic pattern recognition receptor signaling pathway IDA 16125763, 31390091
GO:0004095 Function Carnitine O-palmitoyltransferase activity EXP 14517221
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600528 2328 ENSG00000110090
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1018
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carnitine palmitoyl transferase 1A deficiency Likely pathogenic; Pathogenic rs1856355607, rs2153995016, rs2153996775, rs1435045544, rs2154001364, rs2153994981, rs2154000018, rs2153997913, rs1211665230, rs1478167106, rs2153999602, rs2153995212, rs1855113733, rs2154000550, rs2153994995
View all (131 more)
RCV001313594
RCV001386789
RCV001389218
RCV001382563
RCV001384119
RCV001966160
RCV001924623
RCV001941664
RCV001955535
RCV001882012
RCV001901121
RCV002000046
RCV001970195
RCV001951062
RCV001951139
RCV001890053
RCV001906586
RCV002210939
RCV002262187
RCV002283679
RCV002306495
RCV002306564
RCV002308111
RCV002309091
RCV002309167
RCV002309356
RCV002309364
RCV002306904
RCV002306989
RCV002307132
RCV002307297
RCV002310226
RCV002310282
RCV002310448
RCV002310542
RCV000169575
RCV002615460
RCV002706608
RCV002755612
RCV002730187
RCV002796472
RCV002796920
RCV002801917
RCV002797171
RCV002806433
RCV002846847
RCV002894131
RCV002876775
RCV002971582
RCV003017875
RCV002972287
RCV003014620
RCV003033428
RCV003027259
RCV003143811
RCV000009628
RCV000009629
RCV000009630
RCV000009631
RCV000009632
RCV000009633
RCV000009634
RCV000009636
RCV000009637
RCV000009638
RCV003226726
RCV003333487
RCV004796802
RCV003468555
RCV003468556
RCV003468557
RCV003468558
RCV003475712
RCV003475713
RCV003475715
RCV003475716
RCV003475717
RCV003475718
RCV003475719
RCV003475720
RCV003475721
RCV003475722
RCV003475723
RCV003475724
RCV003475725
RCV003475726
RCV003475727
RCV003475728
RCV003589683
RCV003589753
RCV003589525
RCV003588440
RCV003588498
RCV003589326
RCV003589329
RCV003590409
RCV003751028
RCV003751848
RCV003752016
RCV003752245
RCV003752285
RCV003752304
RCV003752387
RCV003752498
RCV003752452
RCV003847159
RCV003879410
RCV003989883
RCV003990455
RCV004575684
RCV004575685
RCV000409477
RCV000409196
RCV000409010
RCV001037328
RCV000410594
RCV000410094
RCV000548200
RCV000412145
RCV000411254
RCV000409488
RCV000410747
RCV000409157
RCV000412419
RCV000409874
RCV005407087
RCV000550330
RCV000666394
RCV001203077
RCV000664629
RCV000672741
RCV000666015
RCV000664818
RCV000671989
RCV000674220
RCV000668441
RCV000665000
RCV000670948
RCV000669248
RCV000666810
RCV000671449
RCV000814512
RCV000799501
RCV000055853
RCV000055854
RCV000551382
RCV000694487
RCV000055870
RCV000988590
RCV001047675
RCV001038812
RCV003588719
RCV001203078
RCV001217441
RCV001248371
RCV000793676
RCV001854409
CPT1A ARCTIC VARIANT Pathogenic rs80356779 RCV000714477
CPT1A POLYMORPHISM Pathogenic rs80356779 RCV000714476
CPT1A-related disorder Likely pathogenic; Pathogenic rs2495553333, rs80356779 RCV003402165
RCV003415824
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7925592, rs117610994 RCV005917135
RCV005886342
Cervical cancer Uncertain significance; Benign rs202208941, rs117610994 RCV005910827
RCV005886343
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs150792109 RCV005900818
Gastric cancer Uncertain significance; - rs41302429, rs1555226004 RCV005919083
RCV005930215
Associations from Text MiningDisease associations identified through Pubtator
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