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Aliases for MCCC1 Gene

Aliases for MCCC1 Gene

  • Methylcrotonoyl-CoA Carboxylase 1 (Alpha) 2 3
  • MCCA 3 4 6
  • 3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit 3 4
  • 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha 3 4
  • Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha) 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 1 3 4
  • MCCase Subunit Alpha 3 4
  • EC 4 63
  • Methylcrotonoyl-CoA Carboxylase Subunit Alpha, Mitochondrial 3
  • EC 6.4.1 63
  • MCC-B 3

External Ids for MCCC1 Gene

Previous GeneCards Identifiers for MCCC1 Gene

  • GC03M179498
  • GC03M183588
  • GC03M184135
  • GC03M184053
  • GC03M184215
  • GC03M182733
  • GC03M180137

Summaries for MCCC1 Gene

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 3-methylcrotonyl-coa carboxylase deficiency. Among its related pathways are Disease and Metabolism. 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 for MCCC1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCCC1 Gene

Genomics for MCCC1 Gene

Regulatory Elements for MCCC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MCCC1 Gene

183,015,218 bp from pter
183,116,075 bp from pter
100,858 bases
Minus strand

Genomic View for MCCC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCCC1 Gene

Proteins for MCCC1 Gene

  • Protein details for MCCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q59ES4
    • Q9H959
    • Q9NS97

    Protein attributes for MCCC1 Gene

    725 amino acids
    Molecular mass:
    80473 Da
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits
    • Sequence=BAD92974.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MCCC1 Gene

neXtProt entry for MCCC1 Gene

Proteomics data for MCCC1 Gene at MOPED

Selected DME Specific Peptides for MCCC1 Gene

Post-translational modifications for MCCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for MCCC1 Gene

Suggested Antigen Peptide Sequences for MCCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ATP-grasp domain.
  • Contains 1 ATP-grasp domain.
  • Contains 1 biotin carboxylation domain.
  • Contains 1 biotinyl-binding domain.
genes like me logo Genes that share domains with MCCC1: view

No data available for Gene Families for MCCC1 Gene

Function for MCCC1 Gene

Molecular function for MCCC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MCCC1 Gene

Gene Ontology (GO) - Molecular Function for MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004075 biotin carboxylase activity IEA --
GO:0004485 methylcrotonoyl-CoA carboxylase activity NAS 11170888
GO:0005515 protein binding IPI 17360195
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MCCC1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCCC1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MCCC1 Gene

Localization for MCCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCC1 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for MCCC1 Gene COMPARTMENTS Subcellular localization image for MCCC1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MCCC1: view

Pathways for MCCC1 Gene

SuperPathways for MCCC1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Metabolism
3 Metabolism of amino acids and derivatives
4 Disease
5 Valine, leucine and isoleucine degradation
genes like me logo Genes that share pathways with MCCC1: view

Pathways by source for MCCC1 Gene

UniProtKB/Swiss-Prot Q96RQ3-MCCA_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3

Gene Ontology (GO) - Biological Process for MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process NAS 11170888
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with MCCC1: view

Drugs for MCCC1 Gene

(1) Drugbank Compounds for MCCC1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 171548 Target approved, nutraceutical

(10) HMDB Compounds for MCCC1 Gene

Compound Synonyms Cas Number PubMed IDs
(E)-2-Methylglutaconic acid
  • (E)-2-methyl-2-Pentenedioate
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylglutaconyl-CoA
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
  • Adenosindiphosphorsaeure

(2) Novoseek inferred chemical compound relationships for MCCC1 Gene

Compound -log(P) Hits PubMed IDs
3-methylcrotonyl-coa 98.3 3
biotin 71.7 4
genes like me logo Genes that share compounds with MCCC1: view

Transcripts for MCCC1 Gene

mRNA/cDNA for MCCC1 Gene

(5) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MCCC1 Gene

Methylcrotonoyl-CoA carboxylase 1 (alpha):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCCC1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCCC1 Gene

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: -

Relevant External Links for MCCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MCCC1 Gene

mRNA expression in normal human tissues for MCCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MCCC1 Gene

This gene is overexpressed in Heart (9.2) and Nasal epithelium (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCCC1 Gene

SOURCE GeneReport for Unigene cluster for MCCC1 Gene Hs.47649

genes like me logo Genes that share expressions with MCCC1: view

Expression partners for MCCC1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCCC1 Gene

Orthologs for MCCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MCCC1 35
  • 88.92 (n)
  • 88.41 (a)
MCCC1 36
  • 88 (a)
(Canis familiaris)
Mammalia MCCC1 35
  • 88.47 (n)
  • 87.9 (a)
MCCC1 36
  • 88 (a)
(Mus musculus)
Mammalia Mccc1 35
  • 83.89 (n)
  • 84.64 (a)
Mccc1 16
Mccc1 36
  • 84 (a)
(Pan troglodytes)
Mammalia MCCC1 35
  • 99.45 (n)
  • 99.03 (a)
MCCC1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mccc1 35
  • 83.64 (n)
  • 84.29 (a)
(Monodelphis domestica)
Mammalia MCCC1 36
  • 60 (a)
(Ornithorhynchus anatinus)
Mammalia MCCC1 36
  • 83 (a)
(Gallus gallus)
Aves MCCC1 35
  • 73.85 (n)
  • 76.9 (a)
MCCC1 36
  • 74 (a)
(Anolis carolinensis)
Reptilia MCCC1 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mccc1 35
  • 71.7 (n)
  • 75.54 (a)
(Danio rerio)
Actinopterygii mccc1 35
  • 68.66 (n)
  • 73.32 (a)
mccc1 36
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2118 37
  • 54 (a)
CG2118 35
  • 56.82 (n)
  • 56.12 (a)
CG2118 36
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010228 35
  • 56.93 (n)
  • 57.08 (a)
(Caenorhabditis elegans)
Secernentea F32B6.2 37
  • 51 (a)
F32B6.2 35
  • 56.23 (n)
  • 54.71 (a)
mccc-1 36
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUR1,2 36
  • 12 (a)
DUR1,2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MCCA 35
  • 54.78 (n)
  • 50.15 (a)
(Glycine max)
eudicotyledons Gma.6752 35
(Oryza sativa)
Liliopsida Os.19628 35
Os12g0605800 35
  • 53.23 (n)
  • 49.78 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1502 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00591 35
  • 52.48 (n)
  • 48.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
Species with no ortholog for MCCC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCCC1 Gene

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

Paralogs for MCCC1 Gene

Paralogs for MCCC1 Gene

genes like me logo Genes that share paralogs with MCCC1: view

Variants for MCCC1 Gene

Sequence variations from dbSNP and Humsavar for MCCC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs937652 -- 183,099,540(+) CCCGC(C/G)GGCCA utr-variant-5-prime, nc-transcript-variant, upstream-variant-2KB
rs1056565 -- 183,029,764(-) TAGGA(C/T)AGGGA intron-variant
rs1135365 -- 183,019,420(-) ATCTC(A/T)TTCAT intron-variant
rs1502762 -- 183,045,792(-) TGAAA(C/T)GGATT intron-variant
rs1540735 -- 183,035,218(-) ATGGA(A/G)CGTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCCC1 Gene

Variant ID Type Subtype PubMed ID
nsv461031 CNV Loss 19166990
nsv508968 CNV Insertion 20534489
esv28631 CNV Gain 19812545
esv1601884 CNV Insertion 17803354
esv32850 CNV Loss 17666407
esv259725 OTHER Complex 20981092

Relevant External Links for MCCC1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCC1 Gene

Disorders for MCCC1 Gene

(1) OMIM Diseases for MCCC1 Gene (609010)


  • 3-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. {ECO:0000269 PubMed:11170888, ECO:0000269 PubMed:11181649, ECO:0000269 PubMed:11406611, ECO:0000269 PubMed:16010683, ECO:0000269 PubMed:17968484, ECO:0000269 PubMed:21071250, ECO:0000269 PubMed:22150417, ECO:0000269 PubMed:22264772, ECO:0000269 PubMed:22642865, ECO:0000269 Ref.6}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MCCC1 Gene

Relevant External Links for MCCC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MCCC1: view

No data available for Novoseek inferred disease relationships and Genatlas for MCCC1 Gene

Publications for MCCC1 Gene

  1. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID: 11170888) Gallardo M.E. … Penalva M.A. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 11181649) Baumgartner M.R. … Valle D. (J. Clin. Invest. 2001) 3 4 23
  3. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. (PMID: 11401427) Obata K. … Kondo I. (Genomics 2001) 3 4 23
  4. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PMID: 11406611) Holzinger A. … Roscher A.A. (Hum. Mol. Genet. 2001) 3 4 23
  5. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 17968484) Uematsu M. … Ohura T. (J. Hum. Genet. 2007) 3 4 23

Products for MCCC1 Gene

Sources for MCCC1 Gene

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