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PPCS phosphopantothenoylcysteine synthetase [ Homo sapiens (human) ]

Gene ID: 79717, updated on 1-Aug-2020

Summary

Official Symbol
PPCSprovided by HGNC
Official Full Name
phosphopantothenoylcysteine synthetaseprovided by HGNC
Primary source
HGNC:HGNC:25686
See related
Ensembl:ENSG00000127125 MIM:609853
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

Genomic context

See PPCS in Genome Data Viewer
Location:
1p34.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42456341..42473381)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (42921968..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 coiled-coil domain containing 30 Neighboring gene RPS3A pseudogene 11 Neighboring gene TMSB4X pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11838, MGC117357, MGC138220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphopantothenate--cysteine ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphopantothenate--cysteine ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
acetyl-CoA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
coenzyme A biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
coenzyme A biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001077447.2NP_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, BC112015, BP211065
    Consensus CDS
    CCDS41312.1
    UniProtKB/Swiss-Prot
    Q9HAB8
    Conserved Domains (1) summary
    cl04410
    Location:595
    DFP; DNA / pantothenate metabolizm flavoprotein
  2. NM_001287506.1NP_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:595
    DFP; DNA / pantothenate metabolizm flavoprotein
  3. NM_001287507.1NP_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:2100
    DFP; DNA / pantothenate metabolizm flavoprotein
  4. NM_001287508.1NP_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, BC112015, DB479832
    Consensus CDS
    CCDS41312.1
    UniProtKB/Swiss-Prot
    Q9HAB8
    Conserved Domains (1) summary
    cl04410
    Location:595
    DFP; DNA / pantothenate metabolizm flavoprotein
  5. NM_001287509.1NP_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, BC112015, CB998485
    Consensus CDS
    CCDS41312.1
    UniProtKB/Swiss-Prot
    Q9HAB8
    Conserved Domains (1) summary
    cl04410
    Location:595
    DFP; DNA / pantothenate metabolizm flavoprotein
  6. NM_001287510.1NP_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:595
    DFP; DNA / pantothenate metabolizm flavoprotein
  7. NM_001287511.1NP_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, BC112015
    UniProtKB/Swiss-Prot
    Q9HAB8
    Conserved Domains (1) summary
    cl04410
    Location:3377
    DFP; DNA / pantothenate metabolizm flavoprotein
  8. NM_024664.4NP_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
    Q9HAB8
    Related
    ENSP00000361642.3, ENST00000372561.4
    Conserved Domains (1) summary
    cl27193
    Location:15302
    DFP; DNA / pantothenate metabolism flavoprotein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    42456341..42473381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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