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PPCDC phosphopantothenoylcysteine decarboxylase [ Homo sapiens (human) ]

Gene ID: 60490, updated on 21-Dec-2019

Summary

Official Symbol
PPCDCprovided by HGNC
Official Full Name
phosphopantothenoylcysteine decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:28107
See related
Ensembl:ENSG00000138621 MIM:609854
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
coaC; MDS018; PPC-DC
Summary
Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 1.6), appendix (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See PPCDC in Genome Data Viewer
Location:
15q24.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (75023544..75060180)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75315927..75343067)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984731 Neighboring gene secretory carrier membrane protein 5 Neighboring gene stromal cell derived factor 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10472

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphopantothenoylcysteine decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
coenzyme A biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
coenzyme A biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
coenzyme biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphopantothenoylcysteine decarboxylase
NP_001288030.1
NP_001288031.1
NP_001288032.1
NP_001288033.1
NP_001288034.1
NP_068595.3
XP_016877950.1
XP_016877951.1
XP_016877952.1
XP_016877953.1
XP_016877954.1

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_001301101.2NP_001288030.1  phosphopantothenoylcysteine decarboxylase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AY358848, BC005877, BF243417, BM555704
    Consensus CDS
    CCDS73759.1
    UniProtKB/Swiss-Prot
    Q96CD2
    UniProtKB/TrEMBL
    H3BQB0
    Related
    ENSP00000455691.1, ENST00000568649.5
    Conserved Domains (1) summary
    cl19190
    Location:16161
    Flavoprotein; Flavoprotein
  2. NM_001301102.2NP_001288031.1  phosphopantothenoylcysteine decarboxylase isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AY358848, BC005877, BF243417, BU500301, DW437029
    Consensus CDS
    CCDS73760.1
    UniProtKB/Swiss-Prot
    Q96CD2
    UniProtKB/TrEMBL
    H3BRQ0
    Related
    ENSP00000456353.1, ENST00000567336.1
    Conserved Domains (1) summary
    cl19190
    Location:16172
    Flavoprotein; Flavoprotein
  3. NM_001301103.2NP_001288032.1  phosphopantothenoylcysteine decarboxylase isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
    Source sequence(s)
    AY358848, BC005877, BF243417, BI833814
    Consensus CDS
    CCDS73761.1
    UniProtKB/Swiss-Prot
    Q96CD2
    UniProtKB/TrEMBL
    H3BSE3
    Related
    ENSP00000456665.1, ENST00000564923.5
    Conserved Domains (1) summary
    cl19190
    Location:34129
    Flavoprotein; Flavoprotein
  4. NM_001301104.2NP_001288033.1  phosphopantothenoylcysteine decarboxylase isoform e

    See identical proteins and their annotated locations for NP_001288033.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform e.
    Source sequence(s)
    AF182419, BC005877, DW437029
    Consensus CDS
    CCDS76781.1
    UniProtKB/Swiss-Prot
    Q96CD2
    UniProtKB/TrEMBL
    H3BU63
    Related
    ENSP00000457490.1, ENST00000563393.1
    Conserved Domains (1) summary
    cl19190
    Location:972
    Flavoprotein; Flavoprotein
  5. NM_001301105.2NP_001288034.1  phosphopantothenoylcysteine decarboxylase isoform e

    See identical proteins and their annotated locations for NP_001288034.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains alternate 5' exon structure, and it thus differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform e.
    Source sequence(s)
    AY358848, BC005877, BG744258, BI907452, DW437029
    Consensus CDS
    CCDS76781.1
    UniProtKB/Swiss-Prot
    Q96CD2
    UniProtKB/TrEMBL
    H3BU63
    Conserved Domains (1) summary
    cl19190
    Location:972
    Flavoprotein; Flavoprotein
  6. NM_021823.5NP_068595.3  phosphopantothenoylcysteine decarboxylase isoform a

    See identical proteins and their annotated locations for NP_068595.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AY358848, BC005877, BF243417, DW437029
    Consensus CDS
    CCDS10275.1
    UniProtKB/Swiss-Prot
    Q96CD2
    Related
    ENSP00000343190.3, ENST00000342932.8
    Conserved Domains (1) summary
    cl19190
    Location:16204
    Flavoprotein; Flavoprotein

RNA

  1. NR_125369.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because it does not contain an ORF that meets RefSeq quality criteria
    Source sequence(s)
    AY358848, BC005877, BF243417, DB488540, DW437029

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    75023544..75060180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022464.1XP_016877953.1  phosphopantothenoylcysteine decarboxylase isoform X5

  2. XM_017022461.1XP_016877950.1  phosphopantothenoylcysteine decarboxylase isoform X2

  3. XM_017022465.2XP_016877954.1  phosphopantothenoylcysteine decarboxylase isoform X1

  4. XM_017022462.1XP_016877951.1  phosphopantothenoylcysteine decarboxylase isoform X3

  5. XM_017022463.2XP_016877952.1  phosphopantothenoylcysteine decarboxylase isoform X4

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