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    PPCS phosphopantothenoylcysteine synthetase [ Homo sapiens (human) ]

    Gene ID: 79717, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PPCSprovided by HGNC
    Official Full Name
    phosphopantothenoylcysteine synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:25686
    See related
    Ensembl:ENSG00000127125 MIM:609853; AllianceGenome:HGNC:25686
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMD2C
    Summary
    Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 13.6), thyroid (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPCS in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42456341..42473417)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42326703..42343779)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (42922012..42939088)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal modification protein rimK like family member A Neighboring gene ribosomal protein S15a pseudogene 8 Neighboring gene zinc finger MYND-type containing 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 762 Neighboring gene coiled-coil domain containing 30 Neighboring gene RPS3A pseudogene 11 Neighboring gene TMSB4X pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. Manoj N, et al. Structure, 2003 Aug. PMID 12906824
    2. Kinetic characterization of human phosphopantothenoylcysteine synthetase. Yao J, et al. Biochim Biophys Acta, 2009 Dec. PMID 19683078
    3. 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
    4. Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics. Daugherty M, et al. J Biol Chem, 2002 Jun 14. PMID 11923312
    5. Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes. Tsuritani K, et al. Genome Res, 2007 Jul. PMID 17567985, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cardiomyopathy, dilated, 2c
    MedGen: C4748647 OMIM: 618189 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ11838, MGC117357, MGC138220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphopantothenate--cysteine ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphopantothenate--cysteine ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphopantothenate--cysteine ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein homodimerization activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in coenzyme A biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in coenzyme A biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in coenzyme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coenzyme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heart process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    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_001070915.1
    NP_001274435.1
    NP_001274436.1
    NP_001274437.1
    NP_001274438.1
    NP_001274439.1
    NP_001274440.1
    NP_078940.2

    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_001077447.3 → NP_001070915.1  phosphopantothenate--cysteine ligase isoform b

      See identical proteins and their annotated locations for NP_001070915.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AL445669, BP211065
      Consensus CDS
      CCDS41312.1
      UniProtKB/Swiss-Prot
      Q9HAB8
      Conserved Domains (1) summary
      cl04410
      Location:5 → 95
      DFP; DNA / pantothenate metabolizm flavoprotein

    2. NM_001287506.1 → NP_001274435.1  phosphopantothenate--cysteine ligase isoform b

      See identical proteins and their annotated locations for NP_001274435.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AL445669, BM923950
      Consensus CDS
      CCDS41312.1
      UniProtKB/Swiss-Prot
      Q9HAB8
      Related
      ENSP00000361643.1, ENST00000372562.1
      Conserved Domains (1) summary
      cl04410
      Location:5 → 95
      DFP; DNA / pantothenate metabolizm flavoprotein

    3. NM_001287507.1 → NP_001274436.1  phosphopantothenate--cysteine ligase isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate first exon and an alternate splice junction at the 3' end of the second exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AL445669, BJ990298, BP872074
      Conserved Domains (1) summary
      cl04410
      Location:2 → 100
      DFP; DNA / pantothenate metabolizm flavoprotein

    4. NM_001287508.2 → NP_001274437.1  phosphopantothenate--cysteine ligase isoform b

      See identical proteins and their annotated locations for NP_001274437.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AL445669, DB479832
      Consensus CDS
      CCDS41312.1
      UniProtKB/Swiss-Prot
      Q9HAB8
      Conserved Domains (1) summary
      cl04410
      Location:5 → 95
      DFP; DNA / pantothenate metabolizm flavoprotein

    5. NM_001287509.2 → NP_001274438.1  phosphopantothenate--cysteine ligase isoform b

      See identical proteins and their annotated locations for NP_001274438.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AL445669, CB998485
      Consensus CDS
      CCDS41312.1
      UniProtKB/Swiss-Prot
      Q9HAB8
      Conserved Domains (1) summary
      cl04410
      Location:5 → 95
      DFP; DNA / pantothenate metabolizm flavoprotein

    6. NM_001287510.2 → NP_001274439.1  phosphopantothenate--cysteine ligase isoform b

      See identical proteins and their annotated locations for NP_001274439.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate intron compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 5, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AL445669, BC062586, BC112015
      Consensus CDS
      CCDS41312.1
      UniProtKB/Swiss-Prot
      Q9HAB8
      Conserved Domains (1) summary
      cl04410
      Location:5 → 95
      DFP; DNA / pantothenate metabolizm flavoprotein

    7. NM_001287511.2 → NP_001274440.1  phosphopantothenate--cysteine ligase isoform d

      See identical proteins and their annotated locations for NP_001274440.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) uses an alternate last exon compared to variant 1. The resulting isoform (d) has a shorter and distinct the C-terminus compared to isoform a.
      Source sequence(s)
      AA748446, AL445669, BC112015
      UniProtKB/TrEMBL
      Q5VVM3
      Conserved Domains (1) summary
      cl04410
      Location:33 → 77
      DFP; DNA / pantothenate metabolizm flavoprotein

    8. NM_024664.4 → NP_078940.2  phosphopantothenate--cysteine ligase isoform a

      See identical proteins and their annotated locations for NP_078940.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL445669, BC112015
      Consensus CDS
      CCDS41311.1
      UniProtKB/Swiss-Prot
      Q3KQT2, Q5VVM0, Q9HAB8
      Related
      ENSP00000361642.3, ENST00000372561.4
      Conserved Domains (1) summary
      cl27193
      Location:15 → 302
      DFP; DNA / pantothenate metabolism flavoprotein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      42456341..42473417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      42326703..42343779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAB8.2 GenPept UniProtKB/Swiss-Prot:Q9HAB8

    Gene LinkOut

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

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