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    Ppcs phosphopantothenoylcysteine synthetase [ Mus musculus (house mouse) ]

    Gene ID: 106564, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ppcsprovided by MGI
    Official Full Name
    phosphopantothenoylcysteine synthetaseprovided by MGI
    Primary source
    MGI:MGI:1915237
    See related
    Ensembl:ENSMUSG00000028636 AllianceGenome:MGI:1915237
    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
    6330579B17Rik
    Summary
    Predicted to enable phosphopantothenate--cysteine ligase activity and protein homodimerization activity. Predicted to be involved in acetyl-CoA biosynthetic process; coenzyme A biosynthetic process; and heart process. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human PPCS (phosphopantothenoylcysteine synthetase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 27.7), duodenum adult (RPKM 12.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 D2.1; 4 55.38 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (119275724..119279673, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (119418527..119422440, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10252 Neighboring gene peptidyl prolyl isomerase H Neighboring gene coiled-coil domain containing 30 Neighboring gene lactate dehydrogenase A, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_11233 Neighboring gene zinc finger, MYND domain containing 12 Neighboring gene STARR-positive B cell enhancer ABC_E2708 Neighboring gene ribosomal modification protein rimK-like family member A Neighboring gene STARR-seq mESC enhancer starr_11235

    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 Coenzyme A Level Modulator Hopantenate (HoPan) Inhibits Phosphopantotenoylcysteine Synthetase Activity. Mostert KJ, et al. ACS Chem Biol, 2021 Nov 19. PMID 34582681, Free PMC Article
    2. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. Iuso A, et al. Am J Hum Genet, 2018 Jun 7. PMID 29754768, Free PMC Article
    3. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    4. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

    See all (19) 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 (2) 

    Pathways from PubChem

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    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 identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphopantothenate--cysteine ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphopantothenate--cysteine ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in coenzyme A biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in coenzyme A biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in heart process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phosphopantothenate--cysteine ligase
    Names
    PPC synthetase
    NP_001342143.1
    NP_080770.2
    XP_011238687.1

    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_001355214.1 → NP_001342143.1  phosphopantothenate--cysteine ligase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK006290, BM227018, BX470216, BY634907, BY754420
      Consensus CDS
      CCDS89823.1
      Related
      ENSMUSP00000101923.2, ENSMUST00000106316.2
      Conserved Domains (1) summary
      cl27193
      Location:1 → 85
      DFP; DNA / pantothenate metabolism flavoprotein

    2. NM_026494.4 → NP_080770.2  phosphopantothenate--cysteine ligase isoform 1

      See identical proteins and their annotated locations for NP_080770.2

      Status: VALIDATED

      Source sequence(s)
      AK006290, BM227018, BX470216, BY634907, BY754420, CF174441
      Consensus CDS
      CCDS18581.1
      UniProtKB/Swiss-Prot
      Q3TVW0, Q8VDG5, Q9D376, Q9DA06
      Related
      ENSMUSP00000030385.7, ENSMUST00000030385.13
      Conserved Domains (1) summary
      cl04410
      Location:33 → 260
      DFP; DNA / pantothenate metabolizm flavoprotein

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      119275724..119279673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240385.2 → XP_011238687.1  phosphopantothenate--cysteine ligase isoform X1

      Conserved Domains (1) summary
      cl29327
      Location:8 → 68
      DFP; DNA / pantothenate metabolism flavoprotein

    RNA

    1. XR_003954862.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VDG5.1 GenPept UniProtKB/Swiss-Prot:Q8VDG5

    Gene LinkOut

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

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