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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:83,899,115-83,927,031)mRNA (may differ from genome)Protein (493 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MLYCD
Diseases sorted by gene-association score: malonyl-coa decarboxylase deficiency* (1392), combined malonic and methylmalonic aciduria (13), metabolic acidosis (9), vlcad deficiency (5), propionicacidemia (5), maple syrup urine disease, type ii (4), autosomal recessive disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.76 RPKM in Heart - Left Ventricle
Total median expression: 464.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.0030-0.367 Picture PostScript Text
3' UTR -4530.3011542-0.393 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007956 - Malonyl_CoA_deC

Pfam Domains:
PF05292 - Malonyl-CoA decarboxylase C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YGW - X-ray MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0016829 lyase activity
GO:0016831 carboxy-lyase activity
GO:0042802 identical protein binding
GO:0050080 malonyl-CoA decarboxylase activity

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

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC052592 - Homo sapiens malonyl-CoA decarboxylase, mRNA (cDNA clone MGC:59795 IMAGE:6421051), complete cds.
AF090834 - Homo sapiens malonyl coenzyme A decarboxylase mRNA, complete cds.
AF153679 - Homo sapiens malonyl-CoA decarboxylase mRNA, complete cds.
BC000286 - Homo sapiens malonyl-CoA decarboxylase, mRNA (cDNA clone MGC:3193 IMAGE:3357140), complete cds.
JD389327 - Sequence 370351 from Patent EP1572962.
AF097832 - Homo sapiens malonyl-CoA decarboxylase precursor (MLYCD) mRNA, complete cds.
KJ902340 - Synthetic construct Homo sapiens clone ccsbBroadEn_11734 MLYCD gene, encodes complete protein.
AK124050 - Homo sapiens cDNA FLJ42056 fis, clone STOMA2003444.
AK094095 - Homo sapiens cDNA FLJ36776 fis, clone ADRGL2001229, moderately similar to Homo sapiens malonyl-CoA decarboxylase mRNA.
JD553876 - Sequence 534900 from Patent EP1572962.
JD322199 - Sequence 303223 from Patent EP1572962.
JD187767 - Sequence 168791 from Patent EP1572962.
JD490056 - Sequence 471080 from Patent EP1572962.
JD514749 - Sequence 495773 from Patent EP1572962.
JD382716 - Sequence 363740 from Patent EP1572962.
JD273772 - Sequence 254796 from Patent EP1572962.
DQ575129 - Homo sapiens piRNA piR-43241, complete sequence.
JD185292 - Sequence 166316 from Patent EP1572962.
JD366272 - Sequence 347296 from Patent EP1572962.
JD051525 - Sequence 32549 from Patent EP1572962.
JD074590 - Sequence 55614 from Patent EP1572962.
JD155805 - Sequence 136829 from Patent EP1572962.
JD185297 - Sequence 166321 from Patent EP1572962.
JD185298 - Sequence 166322 from Patent EP1572962.
JD185300 - Sequence 166324 from Patent EP1572962.
JD292537 - Sequence 273561 from Patent EP1572962.
JD366278 - Sequence 347302 from Patent EP1572962.
JD366281 - Sequence 347305 from Patent EP1572962.
JD366282 - Sequence 347306 from Patent EP1572962.
JD411174 - Sequence 392198 from Patent EP1572962.
JD185299 - Sequence 166323 from Patent EP1572962.
JD366280 - Sequence 347304 from Patent EP1572962.
JD149289 - Sequence 130313 from Patent EP1572962.
JD149295 - Sequence 130319 from Patent EP1572962.
JD149298 - Sequence 130322 from Patent EP1572962.
JD517382 - Sequence 498406 from Patent EP1572962.
JD116840 - Sequence 97864 from Patent EP1572962.
JD105769 - Sequence 86793 from Patent EP1572962.
JD105770 - Sequence 86794 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00410 - beta-Alanine metabolism
hsa00640 - Propanoate metabolism
hsa01100 - Metabolic pathways
hsa04146 - Peroxisome

Reactome (by CSHL, EBI, and GO)

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

-  Other Names for This Gene
  Alternate Gene Symbols: DCMC_HUMAN, ENST00000262430.1, ENST00000262430.2, ENST00000262430.3, ENST00000262430.4, ENST00000262430.5, NM_012213, O95822, Q9UNU5, Q9Y3F2, uc002fgz.1, uc002fgz.2, uc002fgz.3, uc002fgz.4, uc002fgz.5
UCSC ID: ENST00000262430.6
RefSeq Accession: NM_012213
Protein: O95822 (aka DCMC_HUMAN)
CCDS: CCDS42206.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.