Argininosuccinate lyase (ASL)
The protein contains 464 amino acids for an estimated molecular weight of 51658 Da.
No function (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- 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.
- 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.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
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.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
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.
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The reference OMIM entry for this protein is 207900
Argininosuccinic aciduria
Argininosuccinase deficiency
Argininosuccinate lyase deficiency
Asl deficiency
Argininosuccinic acid lyase deficiency
A number sign (#) is used with this entry because argininosuccinic aciduria is caused by mutation in the gene encoding argininosuccinate lyase (ASL; 608310).
DESCRIPTION
Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency, and arginase deficiency (207800). Erez (2013) reviewed argininosuccinic aciduria and progress in understanding it as a monogenic disorder that, like other inborn errors of metabolism, manifests as a multifactorial disorder at the phenotypic level.CLINICAL FEATURES
Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. As originally described by Allan et al. (1958), onset of symptoms of argininosuccinic aciduria occurs in the first weeks of life. Features include mental and physical retardation, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red. Coryell et al. (1964) reported familial association of argininosuccinic aciduria. They noted that in the U.S., where arginine is probably supplied adequately by the usual diet, brittle hair may not occur as often as in Great Britain, where the average protein intake is less ample. Shih et al. (1969) reported deficiency of argininosuccinase in cultured fibroblasts from patients. Lewis and Miller (1970) described the neuropathologic changes in argininosuccinic aciduria. They noted that astrocyte transformation to Alzheimer type II glia may be a consistent feature of any form of hyperammonemia. Postmortem liver showed marked deficiency of argininosuccinate lyase. Asai et al. (1997) described fatal hyperammonemia in a child with argininosuccinic aciduria following enflurane anesthesia. The diagnosis of argininosuccinic aciduria had been made while the patient was hospitalized for febrile seizures at the age of 18 months. Plasma argininosuccinate was markedly elevated. Argininosuccinase activity was absent in her erythrocytes and was within the heterozygous range in both parents. Oral arginine supplementation and a low protein diet were started. At 13 years of age, the patient underwent an inguinal hernioplasty. The preoperative state was satisfactory except for hepatomegaly and mental retardation. All routine investigations were normal, including those for ammonia. During the second evening after operation, the patient became lethargic with frequent convulsions despite adequate levels of the 3 antiepileptics on which she had been maintained for many years. Despite intravenous hypertonic glucose and arginine supplementation, her ammonia level rose greatly and she became comatose. Despite repeated hemodialysis, she died on the sixth postoperative day. Hepatic findings were consistent with fatty changes. Asai et al. (1997) suggested that although it was tempting to conclude that only enflurane was directly responsible for the hyperammonemia in the patient and although this relationship was not proved beyond reasonable doubt, general anes ... More on the omim web site
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 207900 was added.
Jan. 27, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed