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PGS1 phosphatidylglycerophosphate synthase 1 [ Homo sapiens (human) ]

Gene ID: 9489, updated on 7-Aug-2022

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; AllianceGenome:HGNC:30029
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
Summary
Predicted to enable CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and calcium ion binding activity. Predicted to be involved in cardiolipin biosynthetic process and diacylglycerol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

See PGS1 in Genome Data Viewer
Location:
17q25.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78378649..78424659)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79272180..79318173)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76374730..76420740)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SOCS3 divergent transcript Neighboring gene suppressor of cytokine signaling 3 Neighboring gene RNA, 7SL, cytoplasmic 236, pseudogene Neighboring gene small nucleolar RNA SNORA30/SNORA37 family Neighboring gene dynein axonemal heavy chain 17 Neighboring gene DNAH17 antisense RNA 1 Neighboring gene RAN binding protein 1 pseudogene

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

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS 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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cardiolipin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiolipin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in diacylglycerol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phosphatidylglycerol biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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_016880853.1
XP_047293057.1
XP_047293058.1
XP_047293059.1
XP_047293060.1
XP_047293061.1

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_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, Q9NPW7
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    78378649..78424659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025357.2XP_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
  2. XM_017025358.2XP_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
  3. XM_011525487.3XP_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
  4. XM_017025360.2XP_016880849.1  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
  5. XM_011525488.3XP_011523790.1  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
  6. XM_017025359.2XP_016880848.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X3

  7. XM_047437101.1XP_047293057.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X2

  8. XM_017025361.3XP_016880850.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X6

    UniProtKB/Swiss-Prot
    Q32NB8, Q9NPW7
    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
  9. XM_047437103.1XP_047293059.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X9

  10. XM_017025364.3XP_016880853.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X8

    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]
  11. XM_047437104.1XP_047293060.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X10

  12. XM_011525489.3XP_011523791.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X5

    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
  13. XM_047437105.1XP_047293061.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X11

  14. XM_047437102.1XP_047293058.1  CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform X7

RNA

  1. XR_007065546.1 RNA Sequence

  2. XR_007065547.1 RNA Sequence

  3. XR_001752683.2 RNA Sequence

  4. XR_934604.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79272180..79318173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)