MLYCD (malonyl-CoA decarboxylase)

Gene

• Entrez ID: 23417
• Gene name: Malonyl-CoA decarboxylase
• Gene symbol: MLYCD
• Synonyms: MCD
• Chromosome: 16
• Chromosome location: 16q23.3
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937908	T>C	Pathogenic	Missense variant, coding sequence variant
rs104894528	C>G	Pathogenic	Coding sequence variant, stop gained
rs121908081	G>A	Pathogenic	Coding sequence variant, missense variant
rs138675420	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs201973830	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs374073138	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs398124254	->TGAAGC	Pathogenic	Coding sequence variant, inframe insertion
rs761146008	A>G	Pathogenic	Intron variant
rs796051991	G>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs962135951	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1064794623	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1294168838	GAGT>-	Pathogenic	Splice donor variant, coding sequence variant
rs1567636915	TT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017783	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	16434556
PPARGC1A	Unknown	16434556

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002931	Process	Response to ischemia	ISS
GO:0005737	Component	Cytoplasm	IDA	10455107
GO:0005739	Component	Mitochondrion	IDA	10417274
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005777	Component	Peroxisome	IDA	10417274, 10455107
GO:0005782	Component	Peroxisomal matrix	IBA	21873635
GO:0005782	Component	Peroxisomal matrix	ISS
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006085	Process	Acetyl-CoA biosynthetic process	IBA	21873635
GO:0006085	Process	Acetyl-CoA biosynthetic process	IDA	9869665, 10417274, 10455107
GO:0006085	Process	Acetyl-CoA biosynthetic process	IEA
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IDA	15003260
GO:0006637	Process	Acyl-CoA metabolic process	TAS
GO:0010906	Process	Regulation of glucose metabolic process	IMP	18314420
GO:0019395	Process	Fatty acid oxidation	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	IEA
GO:0042802	Function	Identical protein binding	IPI	23791943
GO:0046321	Process	Positive regulation of fatty acid oxidation	IBA	21873635
GO:0046321	Process	Positive regulation of fatty acid oxidation	IMP	18314420
GO:0050080	Function	Malonyl-CoA decarboxylase activity	IBA	21873635
GO:0050080	Function	Malonyl-CoA decarboxylase activity	IDA	9869665, 10417274, 10455107, 15003260
GO:0050080	Function	Malonyl-CoA decarboxylase activity	TAS
GO:2001294	Process	Malonyl-CoA catabolic process	IBA	21873635
GO:2001294	Process	Malonyl-CoA catabolic process	IDA	10417274, 10455107, 15003260

Other IDs

• MIM: 606761
• HGNC: 7150
• e!Ensembl: ENSG00000103150

Protein

• UniProt ID: O95822
• Protein name: Malonyl-CoA decarboxylase, mitochondrial (MCD) (EC 4.1.1.9)
• Protein 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. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation.
• PDB: 2YGW, 4F0X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17408	MCD_N	95 → 190	Malonyl-CoA decarboxylase N-terminal domain	Domain
  PF05292	MCD	193 → 457	Malonyl-CoA decarboxylase C-terminal domain	Domain

• Sequence:

  MRGFGPGLTARRLLPLRLPPRPPGPRLASGQAAGALERAMDELLRRAVPPTPAYELREKT
  PAPAEGQCADFVSFYGGLAETAQRAELLGRLARGFGVDHGQVAEQSAGVLHLRQQQREAA
  VLLQAEDRLRYALVPRYRGLFHHISKLDGGVRFLVQLRADLLEAQALKLVEGPDVREMNG
  VLKGMLSEWFSSGFLNLERVTWHSPCEVLQKISEAEAVHPVKNWMDMKRRVGPYRRCYFF
  SHCSTPGEPLVVLHVALTGDISSNIQAIVKEHPPSETEEKNKITAAIFYSISLTQQGLQG
  VELGTFLIKRVVKELQREFPHLGVFSSLSPIPGFTKWLLGLLNSQTKEHGRNELFTDSEC
  KEISEITGGPINETLKLLLSSSEWVQSEKLVRALQTPLMRLCAWYLYGEKHRGYALNPVA
  NFHLQNGAVLWRINWMADVSLRGITGSCGLMANYRYFLEETGPNSTSYLGSKIIKASEQV
  LSLVAQFQKNSKL

• Sequence length: 493