Carnitine O-palmitoyltransferase 1, liver isoform (CPT1A)

The protein contains 773 amino acids for an estimated molecular weight of 88368 Da.

 

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:9691089, PubMed:11350182, PubMed:14517221). Plays an important role in hepatic triglyceride metabolism (By similarity). (updated: Oct. 7, 2020)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
  3. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  4. Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
  5. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  6. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
  7. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.

This protein is predicted to be membranous by TOPCONS.


Interpro domains
Total structural coverage: 6%
Model score: 42

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VariantDescription
CPT1AD
dbSNP:rs2229738
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD
CPT1AD

The reference OMIM entry for this protein is 255120

Carnitine palmitoyltransferase i deficiency
Carnitine palmitoyltransferase ia deficiency
Cpt i deficiency
Cpt deficiency, hepatic, type i

A number sign (#) is used with this entry because carnitine palmitoyltransferase deficiency I is caused by mutation in the gene encoding carnitine palmitoyltransferase IA (CPT1A; 600528).

DESCRIPTION

CPT I deficiency is an 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 (Bougneres et al., 1981)

CLINICAL FEATURES

Bougneres et al. (1981) reported 2 sisters who developed severe hypoketotic hypoglycemia at age 8 months, resulting in death in 1 of them. Other features included hepatomegaly, nonketotic hypoglycemia, and coma. Liver CPT activity was absent in the patient who was tested. Demaugre et al. (1988) reported 2 patients with carnitine palmitoyltransferase deficiency and hepatic symptoms. Biochemical analysis of fibroblasts showed a decrease in CPT1 activity which resulted in impaired long-chain fatty acid oxidation. Bonnefont et al. (1989) reported a patient who presented at age 14 months with seizures and hypoketotic hypoglycemia. Administration of medium-chain triglycerides relieved the hypoglycemia and generated a brisk ketogenesis. Biochemical analysis showed decreased CPT I activity (approximately 10% of controls) in fibroblasts; oxidation of palmitate was about 5% of controls. Falik-Borenstein et al. (1989) reported a 26-month-old Mexican female born to parents from a sparsely populated genetic isolate. Beginning at 1 year of age, she had suffered 3 severe Reye syndrome-like episodes precipitated by mild viral illnesses. These episodes were characterized by coma, aketotic hypoglycemia, mild hyperammonemia, elevated serum transaminases, elevated plasma free fatty acids, and hepatomegaly with fatty infiltration. Recovery with glucose treatment and other nonspecific measures was accompanied by severe hypertriglyceridemia. Renal tubular acidosis, both proximal and distal, was noted. Within 20 minutes of administration of medium-chain triglycerides, plasma glucose rose to 75 mg/% without hypertriglyceridemia. After 2 months of treatment with medium-chain triglycerides, renal tubular acidosis completely resolved. Falik-Borenstein et al. (1992) reported a girl with CPT I deficiency in whom clinical manifestations began at 14 months of age and were followed by renal tubular acidosis. Therapy with medium-chain triglycerides resulted in the disappearance of the renal defects, catch-up growth within 2 months, and the ability to tolerate viral infections without developing hypoglycemia or other problems. In a boy with CPT I deficiency, Stanley et al. (1992) found that plasma carnitine levels were twice the normal levels. Urinary dicarboxylic acids were not elevated. Haworth et al. (1991, 1992) described this disorder in a brother and sister and a female second cousin in an extended Hutterite family. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had 2 Reye syndrome-like episodes. The patients were successfully treated with medium-chain triglycerides and avoidance of fasting. IJlst et al. (1998) reported a child, born of consanguineous parents, who presented at age 15 months with diarrhea and feeding difficulties. She was hypotonic and lethargic, and physical examination showed hepatomegaly, hypoketotic hypogly ... More on the omim web site

Subscribe to this protein entry history

Oct. 20, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 255120 was added.

Sept. 16, 2015: Protein entry updated
Automatic update: model status changed