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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (152 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CPT1A ARCTIC VARIANT Pathogenic rs80356779 RCV000714477
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CPT1A POLYMORPHISM Pathogenic rs80356779 RCV000714476
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CPT1A-related disorder Likely pathogenic; Pathogenic rs2495553333, rs80356779 RCV003402165
RCV003415824
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 28671672
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 22533991
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34757660, 37891690 Associate
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28526869
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Aortic valve disease Pubtator 27250500 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35273614 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 29886733, 31744213
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 19181627, 25935004 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18253084, 21294903, 26799588, 29940537, 30092766, 31485672, 31803610
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 25151356
★☆☆☆☆
Found in Text Mining only