Human Gene MLYCD (ENST00000262430.6) from GENCODE V44
Description: Homo sapiens malonyl-CoA decarboxylase (MLYCD), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012213) RefSeq Summary (NM_012213): The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000262430.6 Gencode Gene: ENSG00000103150.7 Transcript (Including UTRs) Position: hg38 chr16:83,899,115-83,927,031 Size: 27,917 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr16:83,899,145-83,915,489 Size: 16,345 Coding Exon Count: 5
ID:DCMC_HUMAN DESCRIPTION: RecName: Full=Malonyl-CoA decarboxylase, mitochondrial; Short=MCD; EC=4.1.1.9; Flags: Precursor; FUNCTION: Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. CATALYTIC ACTIVITY: Malonyl-CoA = acetyl-CoA + CO(2). PATHWAY: Metabolic intermediate biosynthesis; acetyl-CoA biosynthesis; acetyl-CoA from malonyl-CoA: step 1/1. SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm. Peroxisome. DISEASE: Defects in MLYCD are the cause of malonyl-CoA decarboxylase deficiency (MLYCD deficiency) [MIM:248360]. MLYCD deficiency is an autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria. SEQUENCE CAUTION: Sequence=AAD16177.2; Type=Frameshift; Positions=23, 28, 297, 308; Sequence=AAD34631.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLYCD";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95822
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002931 response to ischemia GO:0006085 acetyl-CoA biosynthetic process GO:0006625 protein targeting to peroxisome GO:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006633 fatty acid biosynthetic process GO:0006637 acyl-CoA metabolic process GO:0010906 regulation of glucose metabolic process GO:0046321 positive regulation of fatty acid oxidation GO:2001294 malonyl-CoA catabolic process
Protein O95822 (Reactome details) participates in the following event(s):
R-HSA-977317 malonyl-CoA is decarboxylated to acetyl-CoA in peroxisome R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1 R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex) R-HSA-9033241 Peroxisomal protein import R-HSA-390247 Beta-oxidation of very long chain fatty acids R-HSA-392499 Metabolism of proteins R-HSA-390918 Peroxisomal lipid metabolism R-HSA-8978868 Fatty acid metabolism R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism