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MCCC1 Gene

protein-coding   GIFtS: 64
GCID: GC03M182733

Methylcrotonoyl-CoA Carboxylase 1 (Alpha)

(Previous name: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha))
  See MCCC1-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
Methylcrotonoyl-CoA Carboxylase 1 (Alpha)1 2     MCCase Subunit Alpha2 3
MCCA2 3 5     EC 6.4.1.43 8
Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha)1 2     MCC-B2
3-Methylcrotonyl-CoA Carboxylase 12 3     Methylcrotonoyl-CoA Carboxylase Subunit Alpha, Mitochondrial2
3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit2 3     EC 6.4.18
3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha2 3     

External Ids:    HGNC: 69361   Entrez Gene: 569222   Ensembl: ENSG000000780707   OMIM: 6090105   UniProtKB: Q96RQ33   

Export aliases for MCCC1 gene to outside databases

Previous GC identifers: GC03M179498 GC03M183588 GC03M184135 GC03M184053 GC03M184215 GC03M180137


(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 MCCC1 Gene:
This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer
and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene
are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. (provided
by RefSeq, Jul 2008)

GeneCards Summary for MCCC1 Gene:
MCCC1 (methylcrotonoyl-CoA carboxylase 1 (alpha)) is a protein-coding gene. Diseases associated with MCCC1 include 3 methylcrotonyl-coa carboxylase 1 deficiency, and mccc1-related 3-methylcrotonyl-coa carboxylase deficiency. GO annotations related to this gene include biotin carboxylase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCA.

UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3
Function: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the
conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid
catabolism




(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 at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCCC1 gene promoter:
         USF1   USF2   USF-1:USF-2   Cdc5   Evi-1   POU2F1   POU2F1a   USF-1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCCC1 promoter sequence
   Search Chromatin IP Primers for MCCC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCCC1


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

Entrez Gene cytogenetic band: 3q27   Ensembl cytogenetic band:  3q27.1   HGNC cytogenetic band: 3q27.1

MCCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCCC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M182733:  view genomic region     (about GC identifiers)

Start:
182,733,006 bp from pter      End:
182,833,863 bp from pter
Size:
100,858 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3 (See protein sequence)
Recommended Name: Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial precursor  
Size: 725 amino acids; 80473 Da
Cofactor: Biotin
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2)
subunits
Sequence caution: Sequence=BAD92974.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for MCCC1:
2EJM (3D)    
Secondary accessions: Q59ES4 Q9H959 Q9NS97

Explore the universe of human proteins at neXtProt for MCCC1: NX_Q96RQ3

Explore proteomics data for MCCC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MCCC1 (Q96RQ3) (see all 5)
     AMKMEHTI  YDPMIAKLVVW  ETGVRQGDEVSV  ERDCSVQRRHQK 


    See MCCC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064551.3  
    ENSEMBL proteins: 
     ENSP00000265594   ENSP00000419898   ENSP00000420088   ENSP00000420648   ENSP00000419658  
     ENSP00000420433   ENSP00000419328   ENSP00000420591   ENSP00000418979   ENSP00000420223  
     ENSP00000441253  
    Reactome Protein details: Q96RQ3

    MCCC1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR000089 Biotin_lipoyl
     IPR005481 CarbamoylP_synth_lsu_N
     IPR016185 PreATP-grasp_dom
     IPR011761 ATP-grasp
     IPR005482 Biotin_COase_C

    Graphical View of Domain Structure for InterPro Entry Q96RQ3

    ProtoNet protein and cluster: Q96RQ3

    2 Blocks protein domains:
    IPB000089 Biotin/lipoyl attachment
    IPB001882 Biotin-requiring enzyme


    UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3
    Similarity: Contains 1 ATP-grasp domain
    Similarity: Contains 1 biotin carboxylation domain
    Similarity: Contains 1 biotinyl-binding domain


    Find genes that share domains with MCCC1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCCA_HUMAN, Q96RQ3
    Function: Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the
    conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid
    catabolism
    Catalytic activity: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA

         Enzyme Numbers (IUBMB): EC 6.4.1.41 2 EC 6.4.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004075biotin carboxylase activity IEA--
    GO:0004485methylcrotonoyl-CoA carboxylase activity NAS11170888
    GO:0005515protein binding IPI17360195
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with MCCC1           About GenesLikeMe


    Animal Models:
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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
    MCCA_HUMAN, Q96RQ3: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with MCCC1           About GenesLikeMe


    (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 MCCC1 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    5leucine degradation I
    leucine degradation I


    Find genes that share SuperPaths with MCCC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MCCC1
        leucine degradation I


    3 Reactome Pathways for MCCC1
        Defective HLCS causes multiple carboxylase deficiency
    Biotin transport and metabolism
    Branched-chain amino acid catabolism


    2 Kegg Pathways  (Kegg details for MCCC1):
        Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3
    Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA:
    step 2/3

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCCC1
    Interactions:

        Search GeneGlobe Interaction Network for MCCC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCCC1 (Q96RQ33 ENSP000002655944) via UniProtKB, MINT, STRING, and/or I2D (see all 113)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111773, ENSP000003072414I2D: score=4 STRING: ENSP00000307241
    ACACBO007633, ENSP000003670794I2D: score=2 STRING: ENSP00000367079
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    PITRM1Q5JRX33, ENSP000003703774I2D: score=1 STRING: ENSP00000370377
    GFPT2O948083, ENSP000002537784I2D: score=1 STRING: ENSP00000253778
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006552leucine catabolic process NAS11170888
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006768biotin metabolic process TAS--
    GO:0008152metabolic process ----

    Find genes that share ontologies with MCCC1           About GenesLikeMe



    (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 MCCC1 (MCCA)

    8 HMDB Compounds for MCCC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    (E)-2-Methylglutaconic acid(E)-2-Methylglutaconate (see all 5)53358-21-77059658
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    3-Methylglutaconyl-CoA3-Methylglutaconyl-CoA (see all 4)6247-73-0--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Ceramide (d18:1/16:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 DrugBank Compound for MCCC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--16773504

    2 Novoseek inferred chemical compound relationships for MCCC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-methylcrotonyl-coa 98.3 4 11401427 (1), 11406611 (1), 15868465 (1)
    biotin 71.7 5 11401427 (2), 15623830 (1), 15868465 (1)



    Find genes that share compounds with MCCC1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCCC1 gene: 
    NM_020166.3  

    Unigene Cluster for MCCC1:

    Methylcrotonoyl-CoA carboxylase 1 (alpha)
    Hs.47649  [show with all ESTs]
    Unigene Representative Sequence: BC042453
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265594(uc003fle.3 uc011bqo.2 uc003flf.3 uc011bqp.1 uc011bqq.1)
    ENST00000492597(uc003flg.3) ENST00000497830 ENST00000464601 ENST00000497959(uc010hxi.3)
    ENST00000495767 ENST00000476176 ENST00000489909 ENST00000490284 ENST00000487634
    ENST00000466650 ENST00000486226 ENST00000473955 ENST00000539926
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    Additional mRNA sequence: 

    AB029826.1 AB209737.1 AF297332.1 AF310339.1 AF310972.1 AK023051.1 AK098411.1 AK295293.1 
    AK316428.1 AL442091.1 BC004187.2 BC004214.2 BC036395.1 BC042453.1 CR749608.1 XR_158780.2 
    XR_159417.2 XR_171428.1 

    12 DOTS entries:

    DT.411963  DT.100798665  DT.101979853  DT.425914  DT.97762556  DT.120866674  DT.99949521  DT.95284773 
    DT.95328601  DT.97845644  DT.99963291  DT.100663105 

    1 AceView cDNA sequence:

    BE169311 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MCCC1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
    SP1:                                                  -                                                                                                         
    SP2:                          -           -                                                                                                                     
    SP3:                          -           -           -                                                                                                         
    SP4:                                                                                                                          -                                 
    SP5:                          -                                                                                                                                 


    ECgene alternative splicing isoforms for MCCC1

    (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)
    About This Section

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    MCCC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTTGGGTC
    MCCC1 Expression
    About this image


    MCCC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
    MCCC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCCC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.47649
        Custom PCR Arrays for MCCC1
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    In Situ
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    (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 MCCC1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mccc11 , 5 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)1, 5 83.89(n)1
    84.64(a)1
      3 (17.41 cM)5
    720391  NM_023644.41  NP_076133.31 
     359593125 
    chicken
    (Gallus gallus)
    Aves MCCC11 methylcrotonoyl-CoA carboxylase 1 (alpha) 73.85(n)
    76.9(a)
      424962  NM_001006551.1  NP_001006551.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCCC16
    methylcrotonoyl-CoA carboxylase 1 (alpha)
    74(a)
    1 ↔ 1
    3(172281-194076)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF218409.12   -- 73.91(n)    CF218409.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570721822   -- 75.13(n)    57072182 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21181 , 3 methylcrotonyl-CoA carboxylase3
    CG21181
    54(a)3
    56.82(n)1
    56.12(a)1
      100D23
    437501  NM_001260462.11  NP_001247391.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F32B6.21 , 3 carbomoyl-phosphate carboxylase3
    F32B6.21
    51(a)3
    56.23(n)1
    54.71(a)1
      IV(9884745-9887140)3
    1778411  NM_069376.61  NP_501777.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUR1,2(YBR208C)4 Urea amidolyase, contains both urea carboxylase and more   --   2(642210-636703) 852507  NP_009767.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MCCA1 MCCA 54.78(n)
    50.15(a)
      838362  NM_179252.2  NP_849583.1 
    rice
    (Oryza sativa)
    Liliopsida Os.196282 Oryza sativa 3-methylcrotonyl CoA carboxylase biotin-containing more 74.35(n)    AK121511.1 


    ENSEMBL Gene Tree for MCCC1 (if available)
    TreeFam Gene Tree for MCCC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCCC1 gene
    PCCA2  
    3 SIMAP similar genes for MCCC1 using alignment to 9 protein entries:     MCCA_HUMAN (see all proteins):
    DKFZp686B20267    PC    PCCA

    Find genes that share paralogs with MCCC1           About GenesLikeMe



    (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 MCCC1 (see all 1691)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127904
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127902 D H mis40--------
    VAR_0671974
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0671972 C R mis40--------
    rs289348811,2,4
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127872 mis40--------
    rs289348821,2,4
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127882 mis40--------
    VAR_0127914
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127912 S F mis40--------
    VAR_0671984
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0671982 R Q mis40--------
    VAR_0127854
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127852 A V mis40--------
    VAR_0127864
    Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)4--see VAR_0127862 M R mis40--------
    rs1191032131,2
    Cpathogenic1182622431(-) GCTAGA/CATATA 2 R S mis11Minor allele frequency- C:0.00EU 1323
    rs1191032121,2
    Cpathogenic1182626272(-) TATTAG/TGGACT 2 R M mis10--------

    HapMap Linkage Disequilibrium report for MCCC1 (182733006 - 182833863 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MCCC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508968CNV Insertion20534489
    esv1601884CNV Insertion17803354
    esv32850CNV Loss17666407
    nsv461031CNV Loss19166990
    esv28631CNV Gain19812545
    esv259725OTHER Complex20981092

    Human Gene Mutation Database (HGMD): MCCC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCCC1
    DNA2.0 Custom Variant and Variant Library Synthesis for MCCC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609010   
    OMIM disorders: 210200  
    UniProtKB/Swiss-Prot: MCCA_HUMAN, Q96RQ3
  • Methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: An autosomal recessive disorder of
    leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement
    to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric
    acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for MCCC1:    
    About MalaCards
    3 methylcrotonyl-coa carboxylase 1 deficiency    mccc1-related 3-methylcrotonyl-coa carboxylase deficiency    3-methylcrotonyl-coa carboxylase deficiency    biotin deficiency
    the organic acidemias: an    organic acidemia

    2 diseases from the University of Copenhagen DISEASES database for MCCC1:
    3-Methylcrotonyl-CoA carboxylase deficiency     Organic acidemia

    Find genes that share disorders with MCCC1           About GenesLikeMe

    Genetic Association Database (GAD): MCCC1
    Human Genome Epidemiology (HuGE) Navigator: MCCC1 (3 documents)

    Export disorders for MCCC1 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 MCCC1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with MCCC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PubMed id 11170888)1, 2, 3, 9 Gallardo M.E.... Penalva M.A. (Am. J. Hum. Genet. 2001)
    2. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PubMed id 11406611)1, 2, 9 Holzinger A....Roscher A.A. (Hum. Mol. Genet. 2001)
    3. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. (PubMed id 11401427)1, 2, 9 Obata K.... Kondo I. (Genomics 2001)
    4. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 11181649)1, 2, 9 Baumgartner M.R.... Valle D. (J. Clin. Invest. 2001)
    5. Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (PubMed id 22150417)1, 2 Cho S.Y.... Jin D.K. (Clin. Genet. 2012)
    6. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1, 4 Do C.B....Eriksson N. (PLoS Genet. 2011)
    7. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PubMed id 21292315)1, 4  ....Wood N.W. (Lancet 2011)
    8. 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)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Expression, purification, characterization of human 3-methylcrotonyl- CoA carboxylase (MCCC). (PubMed id 17360195)1, 2 Chu C.H. and Cheng D. (Protein Expr. Purif. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 56922 HGNC: 6936 AceView: MCCC1.1 Ensembl:ENSG00000078070 euGenes: HUgn56922
    ECgene: MCCC1 Kegg: 56922 H-InvDB: MCCC1

    (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 MCCC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MCCC1[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 MCCC1 gene:
    Search GeneIP for patents involving MCCC1

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



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