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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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See Ppcs in Genome Data Viewer
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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