ACSF3

ACSF3
Identifiers
Aliases	ACSF3, acyl-CoA synthetase family member 3
External IDs	OMIM: 614245 MGI: 2182591 HomoloGene: 14958 GeneCards: ACSF3
Gene location (Human)
Chr.	Chromosome 16 (human)
End	89,164,121 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	122,817,880 bp
RNA expression pattern
	Top expressed in
	stomach; ; sural nerve; ; muscle tissue; ; duodenum; ; body of stomach; ; Right lobe of liver;
	More reference expression data
	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
	197322
	257633
	ENSG00000176715
	ENSMUSG00000015016
	Q4G176
	Q3URE1
	NM_001127214; NM_001243279; NM_001284316; NM_174917
	NM_144932
	NP_001120686; NP_001230208; NP_001271245; NP_777577
	NP_659181
	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 acetyl—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.^[8] Combined malonic and methylmalonic aciduria (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 in the urine, although both are elevated. 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[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015016 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c ^d "Entrez Gene: Acyl-CoA synthetase family member 3". Retrieved 2011-12-30.
^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
^ "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^{[permanent dead link]}
^ Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". J. Med. Genet. 48 (9): 602–5. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.

External links[]

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

v t Enzymes: CO CS and CN ligases (EC 6.1-6.3)
6.1: Carbon-Oxygen	Aminoacyl tRNA synthetase Alanine Arginine Asparagine Aspartate Cysteine D-alanine—poly(phosphoribitol) ligase Glutamate Glutamine Glycine Histidine Isoleucine Leucine Lysine Methionine Phenylalanine Proline Serine Threonine Tryptophan Tyrosine Valine
6.2: Carbon-Sulfur	Succinyl coenzyme A synthetase Acetyl—CoA synthetase Long-chain-fatty-acid—CoA ligase
6.3: Carbon-Nitrogen	Glutamine synthetase Ubiquitin ligase Cullin Von Hippel–Lindau tumor suppressor UBE3A Mdm2 Anaphase-promoting complex UBR1 Glutathione synthetase CTP synthetase Adenylosuccinate synthase Argininosuccinate synthase Holocarboxylase synthetase GMP synthase Asparagine synthetase Carbamoyl phosphate synthetase I II Glutamate–cysteine ligase

v t Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)