ACSF3

ACSF3
Identifiers
Aliases	ACSF3 , acyl-CoA synthetase family member 3
External IDs	OMIM: 614245; MGI: 2182591; HomoloGene: 14958; GeneCards: ACSF3; OMA:ACSF3 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q24.3 Start 89,088,375 bp [1] End 89,164,121 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 E1 Start 122,775,486 bp [2] End 122,817,880 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon granulocyte right adrenal gland sural nerve bone marrow cells right adrenal cortex left adrenal gland left adrenal cortex right lobe of liver appendix Top expressed in Ileal epithelium interventricular septum cardiac muscle tissue of left ventricle right kidney lactiferous gland corneal stroma brown adipose tissue otic vesicle proximal tubule left lobe of liver More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding malonyl-CoA synthetase activity ligase activity ATP binding catalytic activity acid-thiol ligase activity very long-chain fatty acid-CoA ligase activity Cellular component mitochondrial matrix mitochondrion Biological process malonate catabolic process metabolism fatty acid biosynthetic process long-chain fatty-acyl-CoA biosynthetic process fatty acid metabolic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 197322 257633 Ensembl ENSG00000176715 ENSMUSG00000015016 UniProt Q4G176 Q3URE1 RefSeq (mRNA) NM_001127214 NM_001243279 NM_001284316 NM_174917 NM_144932 RefSeq (protein) NP_001120686 NP_001230208 NP_001271245 NP_777577 NP_659181 Location (UCSC) Chr 16: 89.09 – 89.16 Mb Chr 8: 122.78 – 122.82 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ACSF3 gene. ^[5]

Structure

The ACSF3 gene is located on the 16th chromosome, with its specific location being 16q24.3. The gene contains 17 exons. ^[5] ASCL4 encodes a 64.1 kDa protein that is composed of 576 amino acids; 20 peptides have been observed through mass spectrometry data. ^{[6] [7]}

Function

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. ^[5]

Clinical significance

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria (CMAMMA). ^[8] CMAMMA is a condition characterized by high levels of malonic acid and methylmalonic acid, because deficiencies in this gene cause these metabolites to not be broken down. The disease is typically diagnosed by either genetic testing or higher levels of methylmalonic acid than malonic acid, although both are elevated. By calculating the malonic acid to methylmalonic acid ratio in blood plasma, CMAMMA can be distinguished from classic methylmalonic acidemia. ^[9] The disorder typically presents symptoms early in childhood, first starting with high levels of acid in the blood (ketoacidosis). The disorder can also present as involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children can even have microcephaly. Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000176715 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000015016 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Acyl-CoA synthetase family member 3" . Retrieved 2011-12-30.
6. Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC   4076475 . PMID   23965338.
7. "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[ permanent dead link ‍]}
8. Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics. 48 (9): 602–605. doi: 10.1136/jmedgenet-2011-100230 . PMID   21785126.
9. de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Shamima R (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. 30. Berlin, Heidelberg: Springer: 15–22. doi:10.1007/8904_2016_531. ISBN   978-3-662-53681-0. PMC   5110436 . PMID   26915364.

Further reading

• Watkins PA, Maiguel D, Jia Z, Pevsner J (December 2007). "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome". Journal of Lipid Research. 48 (12): 2736–2750. doi: 10.1194/jlr.M700378-JLR200 . PMID   17762044.

External links

• Human ACSF3 genome location and ACSF3 gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.