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

Gene ID: 110821, updated on 28-Oct-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, Oct 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 (42) 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

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