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    MCCC1 methylcrotonoyl-CoA carboxylase 1 [ Homo sapiens (human) ]

    Gene ID: 56922, updated on 8-Oct-2017
    Official Symbol
    MCCC1provided by HGNC
    Official Full Name
    methylcrotonoyl-CoA carboxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:6936
    See related
    Ensembl:ENSG00000078070 MIM:609010; Vega:OTTHUMG00000158355
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCCA; MCC-B
    Summary
    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]
    Orthologs
    Location:
    3q27.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (183015218..183099587, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182733006..182817373, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene defective in cullin neddylation 1 domain containing 1 Neighboring gene chromosome 9 open reading frame 85 pseudogene Neighboring gene uncharacterized LOC105374246 Neighboring gene uncharacterized LOC107986159 Neighboring gene uncharacterized LOC105374247 Neighboring gene lysosomal associated membrane protein 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    3 Methylcrotonyl-CoA carboxylase 1 deficiency
    MedGen: CN028786 OMIM: 210200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1 Gag interacts with MCCC1 as demonstrated by proximity dependent biotinylation proteomics PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ25545, DKFZp686B20267

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    biotin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    biotin carboxylase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to methylcrotonoyl-CoA carboxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to methylcrotonoyl-CoA carboxylase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    biotin metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    biotin metabolic process TAS
    Traceable Author Statement
    more info
     
    branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
     
    leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    leucine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    leucine catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein heterooligomerization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    3-methylcrotonyl-CoA carboxylase complex, mitochondrial NAS
    Non-traceable Author Statement
    more info
    PubMed 
    3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    methylcrotonoyl-CoA carboxylase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
    Names
    3-methylcrotonyl-CoA carboxylase 1
    3-methylcrotonyl-CoA carboxylase biotin-containing subunit
    3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha
    MCCase subunit alpha
    methylcrotonoyl-CoA carboxylase 1 (alpha)
    methylcrotonoyl-CoA carboxylase alpha
    methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
    NP_001280202.1
    NP_064551.3
    XP_006713765.1
    XP_011511294.1
    XP_011511295.1
    XP_016862363.1
    XP_016862364.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008100.1 RefSeqGene

      Range
      4991..89360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293273.1NP_001280202.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB029826, BC004214, CR749608, DA487016
      UniProtKB/Swiss-Prot
      Q96RQ3
      UniProtKB/TrEMBL
      Q68D27
      Related
      ENSP00000480435.1, ENST00000610757.4
      Conserved Domains (3) summary
      cd06850
      Location:534597
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:266372
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam02786
      Location:48252
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    2. NM_020166.4NP_064551.3  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_064551.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB029826, AL556872, BC004214, DA487016
      Consensus CDS
      CCDS3241.1
      UniProtKB/Swiss-Prot
      Q96RQ3
      UniProtKB/TrEMBL
      A0A0S2Z693
      Related
      ENSP00000265594.4, OTTHUMP00000212827, ENST00000265594.8, OTTHUMT00000350775
      Conserved Domains (5) summary
      cd06850
      Location:651714
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:383489
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:49716
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:49157
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:163369
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    RNA

    1. NR_120639.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB029826, AK294882, AL556872, BC004214, DA487016
      Related
      ENST00000495767.5, OTTHUMT00000350778
    2. NR_120640.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC104641, AL556872, BC004214, BC042453
      Related
      ENST00000497959.5, OTTHUMT00000350780

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      183015218..183099587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713702.1XP_006713765.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X2

      UniProtKB/TrEMBL
      E9PHF7
      Related
      ENSP00000419898.1, OTTHUMP00000212828, ENST00000492597.5, OTTHUMT00000350776
      Conserved Domains (5) summary
      cd06850
      Location:542605
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:274380
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:2607
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:148
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:54260
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    2. XM_011512992.2XP_011511294.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X1

      Conserved Domains (5) summary
      cd06850
      Location:613676
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:345451
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:11678
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:11119
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:125331
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    3. XM_017006874.1XP_016862363.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X2

      UniProtKB/TrEMBL
      E9PHF7
      Conserved Domains (5) summary
      cd06850
      Location:542605
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:274380
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:2607
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:148
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:54260
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    4. XM_017006875.1XP_016862364.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X2

      UniProtKB/TrEMBL
      E9PHF7
      Conserved Domains (5) summary
      cd06850
      Location:542605
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      smart00878
      Location:274380
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:2607
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:148
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:54260
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    5. XM_011512993.1XP_011511295.1  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform X3

      Conserved Domains (4) summary
      PRK08591
      Location:49472
      PRK08591; acetyl-CoA carboxylase biotin carboxylase subunit; Validated
      pfam00289
      Location:49157
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02785
      Location:383460
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      pfam02786
      Location:163369
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    RNA

    1. XR_001740209.1 RNA Sequence

    2. XR_241502.2 RNA Sequence

      Related
      ENST00000629669.2
    3. XR_001740208.1 RNA Sequence

    4. XR_001740210.1 RNA Sequence

      Related
      ENST00000497830.5, OTTHUMT00000350779
    5. XR_001740207.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      182695925..182780299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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