Human Gene MCCC1 (uc011bqq.1) 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 chr3:182,763,201-182,817,365 Size: 54,165 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr3:182,763,201-182,804,522 Size: 41,322 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:182,763,201-182,817,365)mRNA (may differ from genome)Protein (252 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
TreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: G5E9X5_HUMAN
DESCRIPTION: SubName: Full=Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; SubName: Full=Methylcrotonoyl-Coenzyme A carboxylase 1 (Alpha), isoform CRA_a;
SIMILARITY: Contains 1 biotin carboxylation domain.

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.60327-0.436 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
IPR011761 - ATP-grasp
IPR013815 - ATP_grasp_subdomain_1
IPR013816 - ATP_grasp_subdomain_2
IPR011764 - Biotin_carboxylation_dom
IPR005482 - Biotin_COase_C
IPR005481 - CarbamoylP_synth_lsu_N
IPR005479 - CbamoylP_synth_lsu-like_ATP-bd
IPR016185 - PreATP-grasp_fold
IPR011054 - Rudment_hybrid_motif

Pfam Domains:
PF00289 - Biotin carboxylase, N-terminal domain
PF02222 - ATP-grasp domain
PF02655 - ATP-grasp domain
PF02786 - Carbamoyl-phosphate synthase L chain, ATP binding domain
PF07478 - D-ala D-ala ligase C-terminus
PF08443 - RimK-like ATP-grasp domain

SCOP Domains:
52440 - PreATP-grasp domain
56059 - Glutathione synthetase ATP-binding domain-like

ModBase Predicted Comparative 3D Structure on G5E9X5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0046872 metal ion binding


-  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).
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).
AB209737 - Homo sapiens mRNA for methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) variant protein.
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: AK316428, G5E9X5, G5E9X5_HUMAN, hCG_1811721
UCSC ID: uc011bqq.1
RefSeq Accession: NM_020166
Protein: G5E9X5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK316428.1
exon count: 9CDS single in 3' UTR: no RNA size: 912
ORF size: 756CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 1472.00frame shift in genome: no % Coverage: 99.89
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.