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Aliases for MCCC1 Gene

Aliases for MCCC1 Gene

  • Methylcrotonoyl-CoA Carboxylase 1 2 3 5
  • 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
  • Methylcrotonoyl-CoA Carboxylase Alpha 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 1 3 4
  • MCCase Subunit Alpha 3 4
  • EC 6.4.1.4 4 63
  • MCCA 3 4
  • Methylcrotonoyl-CoA Carboxylase 1 (Alpha) 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) 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 Metabolism and Infectious disease. GO annotations related to this gene include ligase activity and D-alanine-D-alanine ligase 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

Promoters for MCCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCCC1 Gene

Chromosome:
3
Start:
183,015,218 bp from pter
End:
183,116,075 bp from pter
Size:
100,858 bases
Orientation:
Minus strand

Genomic View for MCCC1 Gene

Genes around MCCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q96RQ3-MCCA_HUMAN
    Recommended name:
    Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
    Protein Accession:
    Q96RQ3
    Secondary Accessions:
    • Q59ES4
    • Q9H959
    • Q9NS97

    Protein attributes for MCCC1 Gene

    Size:
    725 amino acids
    Molecular mass:
    80473 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.
    SequenceCaution:
    • 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

Domains & Families for MCCC1 Gene

Suggested Antigen Peptide Sequences for MCCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RQ3

UniProtKB/Swiss-Prot:

MCCA_HUMAN :
  • Contains 1 ATP-grasp domain.
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:0004075 biotin carboxylase activity IEA --
GO:0009374 biotin binding NAS 11401427
genes like me logo Genes that share ontologies with MCCC1: view
genes like me logo Genes that share phenotypes with MCCC1: view

Human Phenotype Ontology for MCCC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MCCC1 Gene

miRTarBase miRNAs that target MCCC1

No data available for Animal Models , 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

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

No data available for Gene Ontology (GO) - Cellular Components for MCCC1 Gene

Pathways & Interactions for MCCC1 Gene

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

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:0006766 vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with MCCC1: view

No data available for SIGNOR curated interactions for MCCC1 Gene

Drugs & Compounds for MCCC1 Gene

(2) Drugs for MCCC1 Gene - From: HMDB, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 36
Adenosine triphosphate Approved Nutra 0

(8) Additional Compounds for MCCC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-methylcrotonyl-coa
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylbut-2-enoyl-Coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonoyl-Coenzyme A
  • 3-Methylcrotonyl-CoA
793193-48-3
(E)-2-Methylglutaconic acid
  • (E)-2-methyl-2-Pentenedioate
  • (E)-2-methyl-2-Pentenedioic acid
  • (E)-2-Methylglutaconate
  • trans-2-Methylglutaconate
  • trans-2-Methylglutaconic acid
53358-21-7
3-methylglutaconyl-coa
  • 3-Methylglutaconyl-CoA
  • 3-Methylglutaconyl-Coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-Coenzyme A
6247-73-0
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
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:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MCCC1 Gene

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

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
MCCC1
ECgene alternative splicing isoforms for
MCCC1

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 from HIPED for MCCC1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MCCC1: view

Protein tissue co-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
cow
(Bos Taurus)
Mammalia MCCC1 35
  • 88.92 (n)
  • 88.41 (a)
MCCC1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCCC1 35
  • 88.47 (n)
  • 87.9 (a)
MCCC1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mccc1 35
  • 83.89 (n)
  • 84.64 (a)
Mccc1 16
Mccc1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCCC1 35
  • 99.45 (n)
  • 99.03 (a)
MCCC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mccc1 35
  • 83.64 (n)
  • 84.29 (a)
oppossum
(Monodelphis domestica)
Mammalia MCCC1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCCC1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCCC1 35
  • 73.85 (n)
  • 76.9 (a)
MCCC1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCCC1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mccc1 35
  • 71.7 (n)
  • 75.54 (a)
zebrafish
(Danio rerio)
Actinopterygii mccc1 35
  • 68.66 (n)
  • 73.32 (a)
mccc1 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2118 37
  • 54 (a)
CG2118 35
  • 56.82 (n)
  • 56.12 (a)
CG2118 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010228 35
  • 56.93 (n)
  • 57.08 (a)
worm
(Caenorhabditis elegans)
Secernentea F32B6.2 37
  • 51 (a)
F32B6.2 35
  • 56.23 (n)
  • 54.71 (a)
mccc-1 36
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUR1,2 36
  • 12 (a)
OneToMany
DUR1,2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MCCA 35
  • 54.78 (n)
  • 50.15 (a)
soybean
(Glycine max)
eudicotyledons Gma.6752 35
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for MCCC1 (if available)
TreeFam:
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
VAR_012785 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
VAR_012786 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
VAR_012787 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
VAR_012788 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D)
rs2270968 - 183,037,421(-) ACTGC(A/C)CACCA intron-variant, nc-transcript-variant, reference, missense

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

Variation tolerance for MCCC1 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.30; 95.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCCC1 Gene

HapMap Linkage Disequilibrium report
MCCC1
Human Gene Mutation Database (HGMD)
MCCC1

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

Disorders for MCCC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MCCC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylcrotonyl-coa carboxylase 1 deficiency
  • 3-methylcrotonyl-coa carboxylase 1
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
mccc1-related 3-methylcrotonyl-coa carboxylase deficiency
ketothiolase deficiency
  • beta-ketothiolase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MCCC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCCA_HUMAN
  • 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.

Relevant External Links for MCCC1

Genetic Association Database (GAD)
MCCC1
Human Genome Epidemiology (HuGE) Navigator
MCCC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCCC1
genes like me logo Genes that share disorders with MCCC1: view

No data available for 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 67
  2. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. (PMID: 16773504) Friebel D. … Hoffmann G.F. (Neuropediatrics 2006) 23 25 26
  3. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. (PMID: 19339287) Eminoglu F.T. … Baumgartner M.R. (J. Child Neurol. 2009) 3 23
  4. Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 19706617) Stucki M. … Baumgartner M.R. (J. Biol. Chem. 2009) 3 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 23

Products for MCCC1 Gene

Sources for MCCC1 Gene

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