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    MCCC2 methylcrotonyl-CoA carboxylase subunit 2 [ Homo sapiens (human) ]

    Gene ID: 64087, updated on 3-Dec-2024

    Summary

    Official Symbol
    MCCC2provided by HGNC
    Official Full Name
    methylcrotonyl-CoA carboxylase subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:6937
    See related
    Ensembl:ENSG00000131844 MIM:609014; AllianceGenome:HGNC:6937
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCCB; MCCCbeta
    Summary
    This gene encodes the small 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
    Expression
    Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MCCC2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71587340..71658706)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (72068680..72140018)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70883167..70954533)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene BDP1 general transcription factor IIIB subunit Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 12 Neighboring gene uncharacterized LOC124900999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70882826-70883612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:71015240-71016126 Neighboring gene CART prepropeptide Neighboring gene catenin beta 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to methylcrotonoyl-CoA carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    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 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-leucine catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in branched-chain amino acid catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in coenzyme A metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of methylcrotonoyl-CoA carboxylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of methylcrotonoyl-CoA carboxylase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of methylcrotonoyl-CoA carboxylase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of methylcrotonoyl-CoA carboxylase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of methylcrotonoyl-CoA carboxylase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
    Names
    3-methylcrotonyl-CoA carboxylase 2
    3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
    3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
    MCCase subunit beta
    biotin carboxylase
    methylcrotonoyl-CoA carboxylase 2 (beta)
    methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
    non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase
    testicular secretory protein Li 29
    NP_001350076.1
    NP_071415.1
    XP_011541831.1
    XP_016865177.1
    XP_047273424.1
    XP_047273425.1
    XP_047273426.1
    XP_047299272.1
    XP_054209021.1
    XP_054209022.1
    XP_054209023.1
    XP_054209024.1
    XP_054209025.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008882.1 RefSeqGene

      Range
      5053..76419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363147.1NP_001350076.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1 and encodes a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AC138832, AC143336
      Consensus CDS
      CCDS93731.1
      UniProtKB/TrEMBL
      A0A804HK37
      Related
      ENSP00000507012.1, ENST00000683789.1
      Conserved Domains (1) summary
      cl27613
      Location:36525
      Carboxyl_trans; Carboxyl transferase domain
    2. NM_022132.5NP_071415.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_071415.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB050049, AC143336, AK025591, CN309723
      Consensus CDS
      CCDS34184.1
      UniProtKB/Swiss-Prot
      A6NIY9, Q96C27, Q9HCC0, Q9Y4L7
      UniProtKB/TrEMBL
      A0A140VK29, A0A804HJ84
      Related
      ENSP00000343657.6, ENST00000340941.11
      Conserved Domains (1) summary
      cl27613
      Location:36563
      Carboxyl_trans; Carboxyl transferase domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      71587340..71658706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009688.2XP_016865177.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X2

      UniProtKB/TrEMBL
      D6RDF7
      Related
      ENSP00000420994.3, ENST00000509358.7
    2. XM_047417468.1XP_047273424.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HHS4, A0A804HIH3
      Related
      ENSP00000506735.1, ENST00000683882.1
    3. XM_047417469.1XP_047273425.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X4

      UniProtKB/TrEMBL
      D6RDF7
    4. XM_011543529.3XP_011541831.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X3

      UniProtKB/TrEMBL
      D6RDF7
      Conserved Domains (1) summary
      cl23717
      Location:84255
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
    5. XM_047417470.1XP_047273426.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X5

      UniProtKB/TrEMBL
      D6RDF7

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      2074427..2098393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443316.1XP_047299272.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X6

      UniProtKB/TrEMBL
      A0A0G2JM88

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1585825..1610592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1117315..1142082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      72068680..72140018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353047.1XP_054209022.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X2

      UniProtKB/TrEMBL
      D6RDF7
    2. XM_054353046.1XP_054209021.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HHS4, A0A804HIH3
    3. XM_054353049.1XP_054209024.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X4

      UniProtKB/TrEMBL
      D6RDF7
    4. XM_054353048.1XP_054209023.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X3

      UniProtKB/TrEMBL
      D6RDF7
    5. XM_054353050.1XP_054209025.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X5

      UniProtKB/TrEMBL
      D6RDF7