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    Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) [ Mus musculus (house mouse) ]

    Gene ID: 72039, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mccc1provided by MGI
    Official Full Name
    methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)provided by MGI
    Primary source
    MGI:MGI:1919289
    See related
    Ensembl:ENSMUSG00000027709 AllianceGenome:MGI:1919289
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mcca; MCCalpha; 1810045E08Rik; 2310058B18Rik
    Summary
    Predicted to enable ATP binding activity and metal ion binding activity. Predicted to contribute to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in L-leucine catabolic process. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in 3-methylcrotonyl-CoA carboxylase 1 deficiency. Orthologous to human MCCC1 (methylcrotonyl-CoA carboxylase subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 18.2), subcutaneous fat pad adult (RPKM 12.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mccc1 in Genome Data Viewer
    Location:
    3 B; 3 17.41 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (36009584..36054843, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (35956292..36000694, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene chaperonin containing Tcp1, subunit 8 (theta) pseudogene Neighboring gene defective in cullin neddylation 1 domain containing 1 Neighboring gene predicted gene 15952 Neighboring gene STARR-positive B cell enhancer ABC_E650 Neighboring gene methylcrotonoyl-Coenzyme A carboxylase 1 (alpha), opposite strand Neighboring gene gene model 57858 Neighboring gene STARR-positive B cell enhancer ABC_E3429 Neighboring gene acyl-Coenzyme A dehydrogenase family, member 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. Baumgartner MR, et al. J Clin Invest, 2001 Feb. PMID 11181649, Free PMC Article
    2. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. Obata K, et al. Genomics, 2001 Mar 1. PMID 11401427
    3. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Gallardo ME, et al. Am J Hum Genet, 2001 Feb. PMID 11170888, Free PMC Article
    4. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. Narayan SB, et al. PLoS One, 2012. PMID 22496890, Free PMC Article
    5. Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome. Grose JH, et al. PLoS One, 2015. PMID 26465331, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to methylcrotonoyl-CoA carboxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of methylcrotonoyl-CoA carboxylase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of methylcrotonoyl-CoA carboxylase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    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
    NP_076133.3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_023644.5 → NP_076133.3  methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

      See identical proteins and their annotated locations for NP_076133.3

      Status: VALIDATED

      Source sequence(s)
      AC116677
      Consensus CDS
      CCDS17307.1
      UniProtKB/Swiss-Prot
      Q3TGU0, Q99MR8, Q9D8R2
      Related
      ENSMUSP00000029259.4, ENSMUST00000029259.10
      Conserved Domains (5) summary
      cd06850
      Location:647 → 710
      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, ...
      COG4770
      Location:45 → 712
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:45 → 153
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02785
      Location:379 → 485
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      cl17255
      Location:159 → 365
      ATP-grasp_4; ATP-grasp domain

    RNA

    1. NR_190638.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC116677

    2. NR_190639.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC116677

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      36009584..36054843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001783756.3 RNA Sequence

    2. XR_001783757.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MR8.2 GenPept UniProtKB/Swiss-Prot:Q99MR8

    Gene LinkOut

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