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    Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 110821, updated on 3-Nov-2024

    Summary

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    Official Symbol
    Pccaprovided by MGI
    Official Full Name
    propionyl-Coenzyme A carboxylase, alpha polypeptideprovided by MGI
    Primary source
    MGI:MGI:97499
    See related
    Ensembl:ENSMUSG00000041650 AllianceGenome:MGI:97499
    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
    Summary
    Enables propionyl-CoA carboxylase activity. Predicted to be involved in lipid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; nervous system; orbito-sphenoid; sensory organ; and urinary system. Used to study propionic acidemia. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and propionic acidemia. Orthologous to human PCCA (propionyl-CoA carboxylase subunit alpha). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 4.2), liver E18 (RPKM 3.6) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pcca in Genome Data Viewer
    Location:
    14 E5; 14 65.99 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (122721822..123127372)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (122484365..122889944)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33769 Neighboring gene STARR-seq mESC enhancer starr_37779 Neighboring gene zinc finger protein of the cerebellum 2 Neighboring gene PRELI domain containing 1 pseudogene Neighboring gene asparagine synthetase pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr14:122956303-122956603 Neighboring gene STARR-positive B cell enhancer mm9_chr14:122956696-122956996 Neighboring gene STARR-positive B cell enhancer mm9_chr14:122968136-122968437 Neighboring gene STARR-positive B cell enhancer ABC_E10845 Neighboring gene predicted gene, 46487 Neighboring gene STARR-seq mESC enhancer starr_37780 Neighboring gene STARR-seq mESC enhancer starr_37781 Neighboring gene STARR-seq mESC enhancer starr_37782 Neighboring gene STARR-seq mESC enhancer starr_37783 Neighboring gene STARR-positive B cell enhancer mm9_chr14:123229731-123230031 Neighboring gene predicted gene, 53848 Neighboring gene RIKEN cDNA 4930594M22 gene Neighboring gene gamma-glutamylamine cyclotransferase Neighboring gene predicted gene, 46488 Neighboring gene transmembrane and tetratricopeptide repeat containing 4

    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 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. Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation. He W, et al. Commun Biol, 2024 May 29. PMID 38811689, Free PMC Article
    2. Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing. Guenzel AJ, et al. Mol Ther, 2013 Jul. PMID 23648696, Free PMC Article
    3. Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors. Guenzel AJ, et al. Hum Gene Ther, 2015 Mar. PMID 25654275, Free PMC Article
    4. In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder. Gallego-Villar L, et al. Free Radic Biol Med, 2016 Jul. PMID 27083476
    5. Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. Rivera-Barahona A, et al. Sci Rep, 2017 Jul 18. PMID 28720782, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.
      Title: Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.
    2. we have investigated mitochondrial function, superoxide anion and H2O2 levels and oxidative damage in relevant tissues of the hypomorphic mice(knockout mouse model for the Pcca gene), to gain insight into the pathophysiological processes contributing to the multiorgan complications observed in propionic acidemia
      Title: In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
    3. A single intravenous injection of adeno-associated virus 2/8 or AAVrh10 expressing PCCA into propionic academia hypomorphic mice decreased systemic propionylcarnitine and methyl citrate for up to 1.5 years.
      Title: Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    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 enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables propionyl-CoA carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables propionyl-CoA carboxylase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables propionyl-CoA carboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables propionyl-CoA carboxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of catalytic complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of catalytic complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    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
    propionyl-CoA carboxylase alpha chain, mitochondrial
    Names
    PCCase subunit alpha
    propanoyl-CoA:carbon dioxide ligase subunit alpha
    propionyl CoA-carboxylase alpha
    NP_001412521.1
    NP_001412522.1
    NP_001412523.1
    NP_001412524.1
    NP_001412525.1
    NP_001412526.1
    NP_659093.2
    XP_036014292.1

    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_001425592.1 → NP_001412521.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    2. NM_001425593.1 → NP_001412522.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    3. NM_001425594.1 → NP_001412523.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    4. NM_001425595.1 → NP_001412524.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    5. NM_001425596.1 → NP_001412525.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC154499, AC154683, AC169511

    6. NM_001425597.1 → NP_001412526.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    7. NM_144844.3 → NP_659093.2  propionyl-CoA carboxylase alpha chain, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_659093.2

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511
      Consensus CDS
      CCDS27350.1
      UniProtKB/Swiss-Prot
      Q80VU5, Q91ZA3, Q922N3
      UniProtKB/TrEMBL
      Q3UGC8
      Related
      ENSMUSP00000038763.7, ENSMUST00000038374.13
      Conserved Domains (5) summary
      cd06850
      Location:657 → 723
      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:393 → 500
      Biotin_carb_C; Biotin carboxylase C-terminal domain
      COG4770
      Location:59 → 724
      PccA; Acetyl/propionyl-CoA carboxylase, alpha subunit [Lipid transport and metabolism]
      pfam00289
      Location:59 → 167
      CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
      pfam02786
      Location:172 → 379
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    RNA

    1. NR_153443.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154499, AC154683, AC169511

    2. NR_189332.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC144798, AC154499, AC169511

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      122721822..123127372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158399.1 → XP_036014292.1  propionyl-CoA carboxylase alpha chain, mitochondrial isoform X3

    RNA

    1. XR_383133.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZA3.2 GenPept UniProtKB/Swiss-Prot:Q91ZA3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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