Human Gene MCCC1 (uc010hxi.3) Description and Page Index
  Description: Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_020166): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:182,733,006-182,817,031 Size: 84,026 Total Exon Count: 19 Strand: -


Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:182,733,006-182,817,031)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneNetworkH-INV
HGNCLynxPubMedStanford SOURCE

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MCCC1
CDC HuGE Published Literature: MCCC1
Positive Disease Associations: Parkinson Disease
Related Studies:
  1. Parkinson Disease
    Michael A Nalls et al. Lancet 2011, Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies., Lancet. [PubMed 21292315]
    These data provide an insight into the genetics of Parkinsons disease and the molecular cause of the disease and could provide future targets for therapies.
  2. Parkinson Disease
    Chuong B Do et al. PLoS genetics 2011, Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease., PLoS genetics. [PubMed 21738487]

-  MalaCards Disease Associations
  MalaCards Gene Search: MCCC1
Diseases sorted by gene-association score: 3-methylcrotonyl-coa carboxylase 1 deficiency* (1200), 3-methylcrotonyl-coa carboxylase deficiency* (379), mccc1-related 3-methylcrotonyl-coa carboxylase deficiency* (100), ketothiolase deficiency (10), multiple carboxylase deficiency (7)
* = 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: 15.94 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 427.24 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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC004187 - Homo sapiens methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), mRNA (cDNA clone MGC:2822 IMAGE:2964422), complete cds.
BC004214 - Homo sapiens methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), mRNA (cDNA clone MGC:4495 IMAGE:2964422), complete cds.
AF297332 - Homo sapiens 3-methylcrotonyl-CoA carboxylase biotin-containing subunit (MCCA) mRNA, complete cds.
BC036395 - Homo sapiens methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), mRNA (cDNA clone IMAGE:5259867).
AK098411 - Homo sapiens cDNA FLJ25545 fis, clone JTH01447, highly similar to Homo sapiens MCC-B mRNA for 3-methylcrotonyl-CoA carboxylase biotin-containing subunit.
CR749608 - Homo sapiens mRNA; cDNA DKFZp686B20267 (from clone DKFZp686B20267).
AK023051 - Homo sapiens cDNA FLJ12989 fis, clone NT2RP3000085, moderately similar to ACETYL-/PROPIONYL-COENZYME A CARBOXYLASE ALPHA CHAIN [CONTAINS: BIOTIN CARBOXYLASE (EC 6.3.4.14); BIOTIN CARBOXYL CARRIER PROTEIN (BCCP)].
AB029826 - Homo sapiens MCC-B mRNA for 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, complete cds.
AF310339 - Homo sapiens 3-methylcrotonyl-CoA carboxylase alpha subunit (MCCA) mRNA, complete cds.
AF310972 - Homo sapiens 3-methylcrotonyl-CoA carboxylase alpha subunit (MCCA) mRNA, complete cds.
BC042453 - Homo sapiens methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), mRNA (cDNA clone IMAGE:4838744), with apparent retained intron.
AL442091 - Homo sapiens mRNA; cDNA DKFZp547H017 (from clone DKFZp547H017).
JD487046 - Sequence 468070 from Patent EP1572962.
JD117964 - Sequence 98988 from Patent EP1572962.
AB209737 - Homo sapiens mRNA for methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) variant protein.
JD525110 - Sequence 506134 from Patent EP1572962.
JD385366 - Sequence 366390 from Patent EP1572962.
JD361671 - Sequence 342695 from Patent EP1572962.
JD236481 - Sequence 217505 from Patent EP1572962.
JD342860 - Sequence 323884 from Patent EP1572962.
KJ899268 - Synthetic construct Homo sapiens clone ccsbBroadEn_08662 MCCC1 gene, encodes complete protein.
KR710012 - Synthetic construct Homo sapiens clone CCSBHm_00008924 MCCC1 (MCCC1) mRNA, encodes complete protein.
KR710013 - Synthetic construct Homo sapiens clone CCSBHm_00008926 MCCC1 (MCCC1) mRNA, encodes complete protein.
KR710014 - Synthetic construct Homo sapiens clone CCSBHm_00008930 MCCC1 (MCCC1) mRNA, encodes complete protein.
KR710015 - Synthetic construct Homo sapiens clone CCSBHm_00008938 MCCC1 (MCCC1) mRNA, encodes complete protein.
KU178727 - Homo sapiens methylcrotonoyl-CoA carboxylase 1 isoform 1 (MCCC1) mRNA, partial cds.
KU178728 - Homo sapiens methylcrotonoyl-CoA carboxylase 1 isoform 2 (MCCC1) mRNA, complete cds, alternatively spliced.
AB587379 - Synthetic construct DNA, clone: pF1KB5080, Homo sapiens MCCC1 gene for methylcrotonoyl-Coenzyme A carboxylase 1, without stop codon, in Flexi system.
AK294882 - Homo sapiens cDNA FLJ54709 complete cds, highly similar to Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial precursor (EC 6.4.1.4).
AK295293 - Homo sapiens cDNA FLJ53328 complete cds, highly similar to Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial precursor (EC 6.4.1.4).
JD019496 - Sequence 520 from Patent EP1572962.
AK316428 - Homo sapiens cDNA, FLJ79327 complete cds, highly similar to Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial precursor (EC 6.4.1.4).
CU678606 - Synthetic construct Homo sapiens gateway clone IMAGE:100017786 5' read MCCC1 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00280 - Valine, leucine and isoleucine degradation
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: BC042453
UCSC ID: uc010hxi.3
RefSeq Accession: NM_020166

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: BC042453.1
exon count: 19CDS single in 3' UTR: no RNA size: 2953
ORF size: 0CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2218.00frame shift in genome: no % Coverage: 99.56
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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