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 4 5
  • Transmembrane Protein 189 2 3 4
  • Plasmanylethanolamine Desaturase 3 4
  • TMEM189 3 4
  • CarF 2 3
  • KUA 3 4
  • EC 1.14.19.77 4
  • PEDS1 5
  • PDES 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 Rocuronium Allergy and Legume Allergy. Among its related pathways are Metabolism and Acyl chain remodelling of PE. 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, PubMed:32209662). 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).

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J050140 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 257.4 +6.0 6007 14.2 ZSCAN16 CHD2 TBP ZBTB10 SP1 MXD4 CEBPA ZNF217 MNT IKZF1 PEDS1 PEDS1-UBE2V1 SNAI1 SLC9A8 LINC01273 B4GALT5 PTPN1 CEBPB RNF114 lnc-CEBPB-9
GH20J050162 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 -11.2 -11223 5.1 TBP ZBTB10 MXD4 FEZF1 CEBPA ZNF217 FOXA1 MNT IKZF1 SMAD5 LINC01275 piR-57460-415 PEDS1 DDX27 ADNP ENSG00000232043 LINC01273 PSMD10P1 DPM1 PTPN1
GH20J050129 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 250.3 +22.7 22733 2.4 MNT BHLHE40 REST ZNF341 RBM22 USF2 RAD51 ZBTB33 NFYC NFIB FJ601684-279 HSALNG0130733 PEDS1 LINC01273 ADNP DPM1 UBE2V1 PEDS1-UBE2V1
GH20J050119 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.3 +33.7 33745 0.8 MNT ZBTB7B RAD51 MAFF ZNF146 FOXA1 MAZ MAX EP400 FOXP1 PEDS1 CEBPB ENSG00000232043 MIR645 PTPN1 UBE2V1 lnc-TMEM189-UBE2V1-4 HSALNG0130733 PEDS1-UBE2V1
GH20J050130 Promoter/Enhancer 0.6 EPDnew dbSUPER 250.3 +24.1 24102 0.1 NFIC HSALNG0130733 PEDS1 FJ601684-279 UBE2V1 PEDS1-UBE2V1
- 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

Latest Assembly
chr20:50,118,254-50,153,734
(GRCh38/hg38)
Size:
35,481 bases
Orientation:
Minus strand

Previous Assembly
chr20:48,734,791-48,770,260
(GRCh37/hg19 by Entrez Gene)
Size:
35,470 bases
Orientation:
Minus strand

chr20:48,697,663-48,770,335
(GRCh37/hg19 by Ensembl)
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-PDES1_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
    Miscellaneous:
    • In human, PESD1 and UBE2V1 are adjacent genes which can produce independent proteins and can also be fused to form a PESD1-UBE2V1 hybrid protein.

    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:

PDES1_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, PubMed:32209662). 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 + 2 [Fe(II)-cytochrome b5] + 2 H(+) + O2 = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 [Fe(III)-cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:22956, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:75028, ChEBI:CHEBI:77290; EC=1.14.19.77; Evidence={ECO:0000269|PubMed:31604315, ECO:0000269|PubMed:32209662};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + a 1-O-hexadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z-hexadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61960, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145181, ChEBI:CHEBI:145186; Evidence={ECO:0000269|PubMed:31604315};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + a 1-O-octadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61964, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145182, ChEBI:CHEBI:145187; Evidence={ECO:0000269|PubMed:31604315};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + a 1-O-(9Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H(+) + O2 = 2 [Fe(III)-cytochrome b5] + a 1-O-(1Z,9Z-octadecadienyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 H2O; Xref=Rhea:RHEA:61968, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, 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:0005515 protein binding IPI 32814053
GO:0016491 oxidoreductase activity IBA 21873635
GO:0050207 plasmanylethanolamine desaturase activity IMP 32209662
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:

miRNA for PEDS1 Gene

miRTarBase miRNAs that target PEDS1

Inhibitory RNAs for research

  • 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 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 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 IBA,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

genes like me logo Genes that share pathways with PEDS1: view

Pathways by source for PEDS1 Gene

2 KEGG pathways for PEDS1 Gene

UniProtKB/Swiss-Prot A5PLL7-PDES1_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 IBA,IMP 32209662
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PEDS1: view

No data available for 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 :

Inhibitory RNAs for research

  • 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

No Expression Related Data Available

Primer products for research

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 , Evidence on tissue expression from TISSUES 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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PEDS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

(8) MalaCards diseases for PEDS1 Gene - From: COP

Disorder Aliases PubMed IDs
rocuronium allergy
  • esmeron allergy
legume allergy
  • fabaceae allergy
egg allergy
  • allergy to eggs
crustacean 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

Additional Disease Information for PEDS1

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. 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
  3. 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
  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