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MLYCD Gene

protein-coding   GIFtS: 61
GCID: GC16P083932

Malonyl-CoA Decarboxylase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Malonyl-CoA Decarboxylase1 2
MCD2 3 5
EC 4.1.1.93 8
Malonyl Coenzyme A Decarboxylase2
Malonyl-CoA Decarboxylase, Mitochondrial2

External Ids:    HGNC: 71501   Entrez Gene: 234172   Ensembl: ENSG000001031507   OMIM: 6067615   UniProtKB: O958223   

Export aliases for MLYCD gene to outside databases

Previous GC identifers: GC16P074843 GC16P084897 GC16P083671 GC16P083712 GC16P082490 GC16P069684


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MLYCD Gene:
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)

GeneCards Summary for MLYCD Gene:
MLYCD (malonyl-CoA decarboxylase) is a protein-coding gene. Diseases associated with MLYCD include malonyl-coa decarboxylase deficiency, and combined malonic and methylmalonic aciduria. GO annotations related to this gene include malonyl-CoA decarboxylase activity and receptor binding. An important paralog of this gene is ENSG00000260300.

UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MLYCD gene promoter:
         AhR   NRSF form 1   Pax-2   Pax-2a   NRSF form 2   E47   CBF-B   CBF-A   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLYCD promoter sequence
   Search Chromatin IP Primers for MLYCD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MLYCD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24

MLYCD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLYCD gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P083932:  view genomic region     (about GC identifiers)

Start:
83,932,730 bp from pter      End:
83,949,787 bp from pter
Size:
17,058 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822 (See protein sequence)
Recommended Name: Malonyl-CoA decarboxylase, mitochondrial precursor  
Size: 493 amino acids; 55003 Da
Subunit: Homotetramer. Dimer of dimers. The two subunits within a dimer display conformational differences
suggesting that at any given moment, only one of the two subunits is competent for malonyl-CoA binding and
catalytic activity. Under oxidizing conditions, can form disulfide-linked homotetramers (in vitro). Associates
with the peroxisomal targeting signal receptor PEX5
Sequence caution: Sequence=AAD16177.2; Type=Frameshift; Positions=23, 28, 297, 308;
2 PDB 3D structures from and Proteopedia for MLYCD:
2YGW (3D)        4F0X (3D)    
Secondary accessions: Q9UNU5 Q9Y3F2
Alternative initiation: 2 isoforms:  O95822-1   O95822-2   (May be produced by alternative initiation at Met-40 of isoform mitochondrial. Alternatively, represents a proteolytic processed form of the mitochondrial form)

Explore the universe of human proteins at neXtProt for MLYCD: NX_O95822

Explore proteomics data for MLYCD at MOPED

Post-translational modifications: 

  • Acetylation at Lys-472 activates malonyl-CoA decarboxylase activity. Deacetylation at Lys-472 by SIRT4 represses
    activity, leading to promote lipogenesis (By similarity)1
  • Interchain disulfide bonds may form in peroxisomes (Potential). Interchain disulfide bonds are not expected to
    form in the reducing environment of the cytoplasm and mitochondria1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MLYCD (O95822) (see all 6)
     MLSEWFS  QQGLQGVELG  SPCEVLQKIS  GFLNLERVTW 


    See MLYCD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036345.2  
    ENSEMBL proteins: 
     ENSP00000262430  
    Reactome Protein details: O95822

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    Cloud-Clone Corp. CLIAs for MLYCD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Malonyl-CoA decarboxylase
    Decarboxylases

    1 InterPro protein domain:
     IPR007956 Malonyl_CoA_deC

    Graphical View of Domain Structure for InterPro Entry O95822

    ProtoNet protein and cluster: O95822


    MLYCD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DCMC_HUMAN, O95822
    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
    Catalytic activity: Malonyl-CoA = acetyl-CoA + CO(2)
    Enzyme regulation: Malonyl-CoA decarboxylase activity does not require any cofactors or divalent metal ions.
    Formation of interchain disulfide bonds leads to positive cooperativity between active sites and increases the
    affinity for malonyl-CoA and the catalytic efficiency (in vitro)
    Biophysicochemical properties: Kinetic parameters: KM=0.36 mM for malonyl-CoA (Malonyl-CoA decarboxylase
    mitochondrial form), PubMed:15003260; KM=0.83 mM for malonyl-CoA (Malonyl-CoA decarboxylase mitochondrial form),
    PubMed:23482565; KM=0.22 mM for malonyl-CoA (Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form),
    PubMed:10455107; KM=0.33 mM for malonyl-CoA (Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form),
    PubMed:15003260; Note=kcat is 19 sec(-1) with malonyl-CoA for malonyl-CoA decarboxylase mitochondrial form,
    PubMed:15003260. kcat is 28 sec(-1) with malonyl-CoA for Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form,
    PubMed:15003260. The catalytic efficiency for malonyl-CoA is at least 1.09-fold higher with the malonyl-CoA
    decarboxylase cytoplasmic+peroxisomal form, PubMed:15003260;

         Genatlas biochemistry entry for MLYCD:
    malonyl-CoA decarboxylase

         Enzyme Number (IUBMB): EC 4.1.1.91 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI--
    GO:0050080malonyl-CoA decarboxylase activity IDA10417274
         
    MLYCD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MLYCD:
     Decreased influenza A/WSN/33 r 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mlycd):
     cardiovascular system  homeostasis/metabolism 

    MLYCD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mlycdtm1Jish for MLYCD

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MLYCD
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    miRNA
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    miRTarBase miRNAs that target MLYCD:
    hsa-mir-335-5p (MIRT017783)

    Block miRNA regulation of human, mouse, rat MLYCD using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MLYCD:
    hsa-miR-495 hsa-miR-589*
    SwitchGear 3'UTR luciferase reporter plasmidMLYCD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MLYCD

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DCMC_HUMAN, O95822: Cytoplasm. Mitochondrion matrix. Peroxisome. Peroxisome matrix (By similarity).
    Note=Enzymatically active in all three subcellular compartments (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome5
    cytosol2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10455107
    GO:0005739mitochondrion IDA10417274
    GO:0005759mitochondrial matrix ISS--
    GO:0005777peroxisome IDA10417274
    GO:0005782peroxisomal matrix TAS--

    MLYCD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MLYCD About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Valine, leucine and isoleucine degradation
    Propanoate metabolism0.31
    3Peroxisome
    Peroxisome
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    5Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MLYCD
        AMPK Enzyme Complex Pathway

    1 Reactome Pathway for MLYCD
        Peroxisomal lipid metabolism

    1 PharmGKB Pathway for MLYCD
        Metformin Pathway, Pharmacodynamic

    4 Kegg Pathways  (Kegg details for MLYCD):
        beta-Alanine metabolism
    Propanoate metabolism
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
    Pathway: Metabolic intermediate biosynthesis; acetyl-CoA biosynthesis; acetyl-CoA from malonyl-CoA: step 1/1


    MLYCD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MLYCD: 

              PPAR Targets in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MLYCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for MLYCD (ENSP000002624304) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACAT1ENSP000002658384STRING: ENSP00000265838
    ACAT2ENSP000003560154STRING: ENSP00000356015
    ACACAENSP000003447894STRING: ENSP00000344789
    ACACBENSP000003670794STRING: ENSP00000367079
    ACOT12ENSP000003032464STRING: ENSP00000303246
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002931response to ischemia ISS--
    GO:0006085acetyl-CoA biosynthetic process IEA--
    GO:0006633fatty acid biosynthetic process IDA15003260
    GO:0010906regulation of glucose metabolic process IMP18314420
    GO:0019395fatty acid oxidation ----

    MLYCD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MLYCD (DCMC)

    4 HMDB Compounds for MLYCD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Malonyl-CoAMalonyl Coenzyme A (see all 11)524-14-1--
    Propionyl-CoAPropionyl-CoA (see all 8)317-66-8--

    Selected Novoseek inferred chemical compound relationships for MLYCD gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malonyl-coa 95.3 42 9869665 (3), 17535268 (3), 18499682 (2), 9177981 (2) (see all 10)
    acetyl-coa 80.1 19 14641011 (1), 18614968 (1), 12392882 (1), 12546686 (1) (see all 11)
    dicarboxylate 72.3 1 9700595 (1)
    fatty acid 69.8 20 10455107 (3), 11461195 (2), 18614968 (2), 14641011 (1) (see all 12)
    carnitine 59.8 1 11916905 (1)
    acyl-coa 53.7 2 17351280 (1), 15855325 (1)
    pioglitazone 42.8 1 15855325 (1)
    katp 31.8 4 11113153 (2), 10721892 (1)
    triacylglycerol 29.9 1 16873691 (1)
    glucose 28.5 9 18314420 (5), 14641011 (1), 10721892 (1), 11113153 (1)



    MLYCD for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MLYCD gene: 
    NM_012213.2  

    Unigene Cluster for MLYCD:

    Malonyl-CoA decarboxylase
    Hs.644610  [show with all ESTs]
    Unigene Representative Sequence: BC052592
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262430(uc002fgz.3) ENST00000569024
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat MLYCD

    Additional mRNA sequence: 

    AF090834.1 AF097832.2 AF153679.1 AK124050.1 BC000286.1 BC052592.1 

    4 DOTS entries:

    DT.414011  DT.100752105  DT.100752103  DT.95266623 

    Selected AceView cDNA sequences (see all 201):

    CA447981 BQ015213 BU859877 AI672395 AK124050 BM976436 BM725835 AI352381 
    AA642982 BC000286 BG823559 CA867400 AW952184 BM718683 BQ012584 CR626099 
    BM920231 AI283870 BU741097 BQ956581 AI924315 AI982883 CA844162 AA825219 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MLYCD expression in normal human tissues (normalized intensities)      MLYCD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATGCAGAG
    MLYCD Expression
    About this image


    MLYCD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Spinal Cord (Nervous System)
    MLYCD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MLYCD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644610

    UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
    Tissue specificity: Expressed in fibroblasts and hepatoblastoma cells (at protein level). Expressed strongly in
    heart, liver, skeletal muscle, kidney and pancreas. Expressed in myotubes. Expressed weakly in brain, placenta,
    spleen, thymus, testis, ovary and small intestine

        Pathway & Disease-focused RT2 Profiler PCR Array including MLYCD: 
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLYCD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MLYCD gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mlycd1 , 5 malonyl-CoA decarboxylase1, 5 84.28(n)1
    88.21(a)1
      8 (67.64 cM)5
    566901  NM_019966.21  NP_064350.21 
     1193948785 
    chicken
    (Gallus gallus)
    Aves MLYCD1 malonyl-CoA decarboxylase 72.03(n)
    73.26(a)
      415812  XM_414174.4  XP_414174.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mlycd1 malonyl-CoA decarboxylase 63.62(n)
    68.91(a)
      100145491  NM_001126941.1  NP_001120413.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mlycd1 malonyl-CoA decarboxylase 63.78(n)
    61.86(a)
      100037349  NM_001089503.1  NP_001082972.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F35G12.13
    mlcd-11
    malonyl-COA decarboxylase3
    mlcd-11
    40(a)3
    49.28(n)1
    42.36(a)1
      III(4638203-4639567)3
    1755971  NM_001027390.51  NP_001022561.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G043201 AT4G04320 47.76(n)
    45.02(a)
      825752  NM_202782.2  NP_974511.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g03941001 Os09g0394100 50.65(n)
    46.39(a)
      4346967  NM_001069626.1  NP_001063091.1 


    ENSEMBL Gene Tree for MLYCD (if available)
    TreeFam Gene Tree for MLYCD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MLYCD gene
    ENSG000002603002  

    MLYCD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MLYCD (see all 751)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945281,2
    Cpathogenic184946796(+) GCTCTC/GAGAAT 2 S * stg10--------
    rs114651191,2
    C--69691924(+) TTTCC-/ATTCAG 1 -- int10--------
    rs672508721,2
    C--69691926(+) TTCCT-/ATCAGA 1 -- int10--------
    rs1996700171,2
    --69693572(+) TTTTT-/TAAATAA 1 -- int10--------
    rs1381226631,2
    C--69693573(+) TTTTT-/AAATAA 1 -- int10--------
    rs756839751,2
    C--83931248(+) CAGAG-/AAAAAA 1 -- us2k10--------
    rs38423531,2
    C--83932221(+) GGGGT-/CAAA  
            
    CAAAG
    1 -- us2k10--------
    rs349114351,2
    C--83934331(+) AAAAA-/ATTGAA 1 -- int10--------
    rs670066431,2
    C--83936109(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs614128091,2
    C--83939837(+) AAGAC-/AAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for MLYCD (83932730 - 83949787 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MLYCD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1908CNV Insertion18451855
    esv26248CNV Loss19812545
    nsv457587CNV Loss19166990

    Human Gene Mutation Database (HGMD): MLYCD
    Locus Specific Mutation Databases (LSDB): MLYCD

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MLYCD
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606761   
    OMIM disorders: 248360  
    UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
  • Malonyl-CoA decarboxylase deficiency (MLYCD deficiency) [MIM:248360]: Autosomal recessive disease
    characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic
    aciduria. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for MLYCD:    About MalaCards
    malonyl-coa decarboxylase deficiency    combined malonic and methylmalonic aciduria    metabolic acidosis    constipation
    autosomal recessive disease    hypotonia    hypoglycemia    hepatoblastoma
    sepsis    obesity    hypertension    ischemia
    multiple myeloma    myeloma    alzheimer's disease    cerebritis
    breast cancer

    1 disease from the University of Copenhagen DISEASES database for MLYCD:
    Metabolic acidosis

    MLYCD for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for MLYCD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malonyl-coa decarboxylase deficiency 98.8 19 11461195 (4), 16078122 (3), 9700595 (2), 10455107 (2) (see all 9)
    cardiomyopathy 56.6 14 16078122 (2), 9177981 (2), 11550227 (2), 12955715 (1) (see all 7)
    developmental delay 55.6 4 12955715 (1), 10455107 (1)
    metabolic acidosis 42.3 3 9869665 (1), 16275149 (1)
    hypoglycemia 42.2 5 12955715 (1), 9869665 (1), 16275149 (1)

    Genetic Association Database (GAD): MLYCD
    Human Genome Epidemiology (HuGE) Navigator: MLYCD (3 documents)

    Export disorders for MLYCD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MLYCD gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with MLYCD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. (PubMed id 10455107)1, 2, 3, 9 Sacksteder K.A.... Gould S.J. (J. Biol. Chem. 1999)
    2. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. (PubMed id 9869665)1, 2, 3, 9 Gao J.... Cohen J.C. (J. Lipid Res. 1999)
    3. The molecular basis of malonyl-CoA decarboxylase deficiency. (PubMed id 10417274)1, 2, 9 FitzPatrick D.R....Christodoulou J. (Am. J. Hum. Genet. 1999)
    4. Malonyl CoenzymeA decarboxylase regulates lipid and glucose metabolism in human skeletal muscle. (PubMed id 18314420)1, 2, 9 Bouzakri K.... Zierath J.R. (Diabetes 2008)
    5. Expression, purification, and characterization of human malonyl-CoA decarboxylase. (PubMed id 15003260)1, 2, 9 Zhou D.... Yang G. (Protein Expr. Purif. 2004)
    6. Structural asymmetry and disulphide bridges among subunits modulate the activity of human Malonyl-CoA Decarboxylase. (PubMed id 23482565)1, 2 Aparicio D....Fita I. (J. Biol. Chem. 2013)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. A proteome-wide perspective on peroxisome targeting signal 1(PTS1)- Pex5p affinities. (PubMed id 20178365)1, 2 Ghosh D. and Berg J.M. (J. Am. Chem. Soc. 2010)
    9. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23417 HGNC: 7150 AceView: MLYCDandOKL38 Ensembl:ENSG00000103150 euGenes: HUgn23417
    ECgene: MLYCD Kegg: 23417 H-InvDB: MLYCD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MLYCD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MLYCD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MLYCD gene:
    Search GeneIP for patents involving MLYCD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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