Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splic... See more...

Aliases for PEDS1 Gene

Aliases for PEDS1 Gene

  • Plasmanylethanolamine Desaturase 1 2 3
  • Transmembrane Protein 189 2 3 4 5
  • Plasmanylethanolamine Desaturase 3 4
  • TMEM189 3 5
  • CarF 2 3
  • KUA 3 4
  • EC 1.14.99.19 4
  • Kua 2

External Ids for PEDS1 Gene

Previous HGNC Symbols for PEDS1 Gene

  • TMEM189

Summaries for PEDS1 Gene

Entrez Gene Summary for PEDS1 Gene

  • Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

GeneCards Summary for PEDS1 Gene

PEDS1 (Plasmanylethanolamine Desaturase 1) is a Protein Coding gene. Diseases associated with PEDS1 include Chlorhexidine Allergy and Rocuronium Allergy. An important paralog of this gene is PEDS1-UBE2V1.

UniProtKB/Swiss-Prot Summary for PEDS1 Gene

  • Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane (PubMed:31604315). Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms (PubMed:31604315).

Additional gene information for PEDS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEDS1 Gene

Genomics for PEDS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PEDS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEDS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEDS1

Genomic Locations for PEDS1 Gene

Genomic Locations for PEDS1 Gene
chr20:50,118,254-50,153,798
(GRCh38/hg38)
Size:
35,545 bases
Orientation:
Minus strand
chr20:48,697,663-48,770,335
(GRCh37/hg19)
Size:
72,673 bases
Orientation:
Minus strand

Genomic View for PEDS1 Gene

Genes around PEDS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEDS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEDS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEDS1 Gene

Proteins for PEDS1 Gene

  • Protein details for PEDS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5PLL7-TM189_HUMAN
    Recommended name:
    Plasmanylethanolamine desaturase
    Protein Accession:
    A5PLL7

    Protein attributes for PEDS1 Gene

    Size:
    270 amino acids
    Molecular mass:
    31135 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PEDS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEDS1 Gene

Post-translational modifications for PEDS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEDS1 Gene

No data available for DME Specific Peptides for PEDS1 Gene

Domains & Families for PEDS1 Gene

Gene Families for PEDS1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PEDS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEDS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56328, highly similar to Homo sapiens ubiquitin-conjugating enzyme variant Kua (Kua), mRNA (Q5TGE2_HUMAN)
  • Transmembrane protein 189 (TM189_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A5PLL7

UniProtKB/Swiss-Prot:

TM189_HUMAN :
  • Histidine box-1 and -2 together with other histidine residues are essential for catalytic activity.
  • Belongs to the fatty acid desaturase CarF family.
Domain:
  • Histidine box-1 and -2 together with other histidine residues are essential for catalytic activity.
Family:
  • Belongs to the fatty acid desaturase CarF family.
genes like me logo Genes that share domains with PEDS1: view

Function for PEDS1 Gene

Molecular function for PEDS1 Gene

UniProtKB/Swiss-Prot Function:
Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane (PubMed:31604315). Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms (PubMed:31604315).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(1,2-saturated alkyl)-2-acyl-sn-glycero-3-phosphoethanolamine + AH2 + O2 = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + A + 2 H2O; Xref=Rhea:RHEA:22956, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:75028, ChEBI:CHEBI:77290; EC=1.14.99.19; Evidence={ECO:0000269|PubMed:31604315};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-O-hexadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + AH2 + O2 = A + a 1-O-(1Z-hexadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61960, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:145181, ChEBI:CHEBI:145186; Evidence={ECO:0000269|PubMed:31604315};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-O-octadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + AH2 + O2 = A + a 1-O-(1Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61964, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:145182, ChEBI:CHEBI:145187; Evidence={ECO:0000269|PubMed:31604315};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-O-(9Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + AH2 + O2 = A + a 1-O-(1Z,9Z-octadecadienyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61968, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:17499, ChEBI:CHEBI:145183, ChEBI:CHEBI:145188; Evidence={ECO:0000269|PubMed:31604315};.

Enzyme Numbers (IUBMB) for PEDS1 Gene

Phenotypes From GWAS Catalog for PEDS1 Gene

Gene Ontology (GO) - Molecular Function for PEDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0050207 plasmanylethanolamine desaturase activity IEA,IDA 31604315
genes like me logo Genes that share ontologies with PEDS1: view
genes like me logo Genes that share phenotypes with PEDS1: view

Animal Models for PEDS1 Gene

MGI Knock Outs for PEDS1:

Animal Model Products

CRISPR Products

miRNA for PEDS1 Gene

miRTarBase miRNAs that target PEDS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEDS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEDS1 Gene

Localization for PEDS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEDS1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEDS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 31604315
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEDS1: view

Pathways & Interactions for PEDS1 Gene

PathCards logo

SuperPathways for PEDS1 Gene

No Data Available

UniProtKB/Swiss-Prot A5PLL7-TM189_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for PEDS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0008611 ether lipid biosynthetic process IDA 31604315
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PEDS1: view

No data available for Pathways by source and SIGNOR curated interactions for PEDS1 Gene

Drugs & Compounds for PEDS1 Gene

No Compound Related Data Available

Transcripts for PEDS1 Gene

mRNA/cDNA for PEDS1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEDS1

Alternative Splicing Database (ASD) splice patterns (SP) for PEDS1 Gene

No ASD Table

Relevant External Links for PEDS1 Gene

GeneLoc Exon Structure for
PEDS1

Expression for PEDS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEDS1

Evidence on tissue expression from TISSUES for PEDS1 Gene

  • Blood(2.3)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PEDS1 Gene

Orthologs for PEDS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PEDS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM189 30 31
  • 99.63 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia TMEM189 30
  • 92.59 (n)
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Gm20431 31
  • 92 (a)
OneToMany
Tmem189 30 17
  • 88.52 (n)
Cow
(Bos Taurus)
Mammalia TMEM189 30 31
  • 90.74 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Tmem189 30
  • 89.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia TMEM189 31
  • 66 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM189 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves TMEM189 30 31
  • 72.4 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem189 30
  • 70.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmem189 30 31
  • 69.42 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Kua 31
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y53C10A.5 31
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for PEDS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PEDS1 Gene

ENSEMBL:
Gene Tree for PEDS1 (if available)
TreeFam:
Gene Tree for PEDS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEDS1: view image

Paralogs for PEDS1 Gene

Variants for PEDS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEDS1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2026757 - p.Trp7Gly

Additional dbSNP identifiers (rs#s) for PEDS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEDS1 Gene

Variant ID Type Subtype PubMed ID
esv34129 CNV loss 18971310
nsv1061982 CNV loss 25217958
nsv1072546 CNV deletion 25765185
nsv474090 CNV novel sequence insertion 20440878
nsv834000 CNV gain+loss 17160897

Variation tolerance for PEDS1 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEDS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEDS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEDS1 Gene

Disorders for PEDS1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for PEDS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chlorhexidine allergy
rocuronium allergy
  • esmeron allergy
acute inferolateral myocardial infarction
  • acute myocardial infarction of inferolateral wall
ceftriaxone allergy
  • rocephin allergy
fruit allergy
  • allergy to fruit
- elite association - COSMIC cancer census association via MalaCards
Search PEDS1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PEDS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEDS1 Gene

Publications for PEDS1 Gene

  1. Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene. (PMID: 11076860) Thomson TM … Guigó R (Genome research 2000) 2 3 4 23
  2. A bacterial light response reveals an orphan desaturase for human plasmalogen synthesis. (PMID: 31604315) Gallego-García A … Elías-Arnanz M (Science (New York, N.Y.) 2019) 2 3 4
  3. The TMEM189 gene encodes plasmanylethanolamine desaturase which introduces the characteristic vinyl ether double bond into plasmalogens. (PMID: 32209662) Werner ER … Watschinger K (Proceedings of the National Academy of Sciences of the United States of America 2020) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Molecular basis of T cell-mediated recognition of pancreatic cancer cells. (PMID: 11280764) Ito M … Itoh K (Cancer research 2001) 3 4

Products for PEDS1 Gene

Sources for PEDS1 Gene