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PGS1 phosphatidylglycerophosphate synthase 1 [ Homo sapiens (human) ]

Gene ID: 9489, updated on 3-May-2020

Summary

Official Symbol
PGS1provided by HGNC
Official Full Name
phosphatidylglycerophosphate synthase 1provided by HGNC
Primary source
HGNC:HGNC:30029
See related
Ensembl:ENSG00000087157 MIM:614942
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
Expression
Ubiquitous expression in bone marrow (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See PGS1 in Genome Data Viewer
Location:
17q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (78378623..78424659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76374705..76420740)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928674 Neighboring gene suppressor of cytokine signaling 3 Neighboring gene RNA, 7SL, cytoplasmic 236, pseudogene Neighboring gene dynein axonemal heavy chain 17 Neighboring gene uncharacterized LOC107985047 Neighboring gene DNAH17 antisense RNA 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

Phenotypes

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131960, DKFZp762M186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cardiolipin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiolipin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
diacylglycerol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylglycerol biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial
Names
PGP synthase 1
NP_077733.3
XP_011523789.1
XP_011523790.1
XP_011523791.1
XP_016880846.1
XP_016880847.1
XP_016880848.1
XP_016880849.1
XP_016880850.1
XP_016880851.1
XP_016880852.1
XP_016880853.1
XP_016880854.1
XP_016880855.1

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_024419.5NP_077733.3  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_077733.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    AK316147, BC108732, BI024108, ES314549
    Consensus CDS
    CCDS42391.1
    UniProtKB/Swiss-Prot
    Q32NB8
    UniProtKB/TrEMBL
    A0A024R8V5
    Related
    ENSP00000262764.5, ENST00000262764.11
    Conserved Domains (3) summary
    cd09135
    Location:96269
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:349508
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:113265
    PLDc_2; PLD-like domain

RNA

  1. NR_110601.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate internal and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC035662, BC108732, BI024108, DC367136, ES314549
    Related
    ENST00000589426.5
  2. NR_110602.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate internal and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297156, BC108732, BI024108, DC367136, ES314549
  3. NR_111989.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate internal exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK024529, AK225030, BC108732, BI024108, ES314549
    Related
    ENST00000589425.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    78378623..78424659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025361.2XP_016880850.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q32NB8
    UniProtKB/TrEMBL
    A0A024R8V5
    Conserved Domains (3) summary
    cd09135
    Location:96269
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:349508
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:113265
    PLDc_2; PLD-like domain
  2. XM_017025362.2XP_016880851.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X5

    UniProtKB/Swiss-Prot
    Q32NB8
    UniProtKB/TrEMBL
    A0A024R8V5
    Conserved Domains (3) summary
    cd09135
    Location:96269
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:349508
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:113265
    PLDc_2; PLD-like domain
  3. XM_017025366.2XP_016880855.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X9

  4. XM_017025364.2XP_016880853.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X7

    Conserved Domains (3) summary
    cd09135
    Location:96243
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:323482
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    COG1502
    Location:95521
    Cls; Phosphatidylserine/phosphatidylglycerophosphate/cardiolipin synthase or related enzyme [Lipid transport and metabolism]
  5. XM_017025357.1XP_016880846.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X1

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439598
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  6. XM_017025358.1XP_016880847.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X1

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439598
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  7. XM_011525487.2XP_011523789.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X1

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439598
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  8. XM_011525489.2XP_011523791.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X4

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439558
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  9. XM_017025360.1XP_016880849.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X3

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439558
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  10. XM_011525488.2XP_011523790.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X3

    Conserved Domains (3) summary
    cd09135
    Location:186359
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:439558
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    pfam13091
    Location:203355
    PLDc_2; PLD-like domain
  11. XM_017025359.1XP_016880848.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X2

  12. XM_017025363.1XP_016880852.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X6

  13. XM_017025365.1XP_016880854.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X8

    UniProtKB/TrEMBL
    B4DLU3
    Conserved Domains (3) summary
    cd09135
    Location:3134
    PLDc_PGS1_euk_1; Catalytic domain, repeat 1, of eukaryotic PhosphatidylGlycerophosphate Synthases
    cd09137
    Location:214373
    PLDc_PGS1_euk_2; Catalytic domain, repeat 2, of eukaryotic phosphatidylglycerophosphate synthases
    COG1502
    Location:12412
    Cls; Phosphatidylserine/phosphatidylglycerophosphate/cardiolipin synthase or related enzyme [Lipid transport and metabolism]

RNA

  1. XR_001752687.2 RNA Sequence

  2. XR_001752688.2 RNA Sequence

  3. XR_001752690.2 RNA Sequence

  4. XR_001752692.2 RNA Sequence

  5. XR_001752691.2 RNA Sequence

  6. XR_001752689.2 RNA Sequence

  7. XR_429930.3 RNA Sequence

  8. XR_001752685.1 RNA Sequence

  9. XR_001752683.1 RNA Sequence

  10. XR_934604.2 RNA Sequence

  11. XR_934606.2 RNA Sequence

  12. XR_934609.2 RNA Sequence

  13. XR_001752684.1 RNA Sequence

  14. XR_001752686.1 RNA Sequence

  15. XR_934607.2 RNA Sequence

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