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PPCS phosphopantothenoylcysteine synthetase [ Homo sapiens (human) ]

Gene ID: 79717, updated on 5-Mar-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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Location:
1p34.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42456341..42473417)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42326703..42343779)
105.20220307 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. Kinetic characterization of human phosphopantothenoylcysteine synthetase. Yao J, et al. Biochim Biophys Acta, 2009 Dec. PMID 19683078
  2. Structure of human phosphopantothenoylcysteine synthetase at 2.3 A resolution. Manoj N, et al. Structure, 2003 Aug. PMID 12906824
  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 (24) 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)

Genotypes

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_2023_10

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

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