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Aliases for PM20D1 Gene

Aliases for PM20D1 Gene

  • Peptidase M20 Domain Containing 1 2 3 5
  • Peptidase M20 Domain-Containing Protein 1 3 4
  • N-Fatty-Acyl-Amino Acid Synthase/Hydrolase PM20D1 3
  • Probable Carboxypeptidase PM20D1 3
  • EC 3.5.1.- 4
  • EC 4.3.-.- 4
  • CPS1 3

External Ids for PM20D1 Gene

Previous GeneCards Identifiers for PM20D1 Gene

  • GC01M204065
  • GC01M176961

Summaries for PM20D1 Gene

GeneCards Summary for PM20D1 Gene

PM20D1 (Peptidase M20 Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and peptidase activity.

UniProtKB/Swiss-Prot for PM20D1 Gene

  • Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PM20D1 Gene

Genomics for PM20D1 Gene

Regulatory Elements for PM20D1 Gene

Enhancers for PM20D1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F205805 0.5 Ensembl 59 +44.5 44548 1.2 HDGF ATF1 ARNT ARID4B SIN3A ZNF2 GLIS2 ZNF766 ZNF143 ZNF207 PM20D1 GYG2P2 ELK4 RAB29 RPL7AP20 NUCKS1 LOC100420878 GC01P205813 GC01M205795
GH01F205811 0.2 ENCODE 50 +37.4 37439 3.3 ATF1 PKNOX1 CREB3L1 SIN3A ZNF2 GLIS2 GATA2 ZNF143 ZNF207 KLF7 PM20D1 MAPKAPK2 GC01P205813 GC01M205795
GH01F205791 0.5 ENCODE 41.4 +57.3 57348 2.2 CTCF TBL1XR1 RAD21 ZNF121 POLR2A ZNF157 SCRT2 ZNF143 SMC3 ZNF548 PM20D1 RAB29 ELK4 GYG2P2 SLC26A9 NUCKS1 GC01M205795 LOC105371702
GH01F205772 0.2 ENCODE 35.8 +75.6 75615 4.7 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 PM20D1 RAB29 GYG2P2 ELK4 RPL7AP20 LOC100420878 NUCKS1
GH01F205747 1.1 ENCODE 34.5 +100.4 100433 4.1 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D SSRP1 ELK4 GYG2P2 PM20D1 LOC100420878 RAB29 RPL7AP20 LOC101929459 ENSG00000236108 RBBP5 NUCKS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PM20D1 on UCSC Golden Path with GeneCards custom track

Promoters for PM20D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001753814 147 800 ZNF316 POLR2A NFYB TAL1 PRDM1 NR2F2

Genomic Location for PM20D1 Gene

Chromosome:
1
Start:
205,828,022 bp from pter
End:
205,850,148 bp from pter
Size:
22,127 bases
Orientation:
Minus strand

Genomic View for PM20D1 Gene

Genes around PM20D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PM20D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PM20D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PM20D1 Gene

Proteins for PM20D1 Gene

  • Protein details for PM20D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GTS8-P20D1_HUMAN
    Recommended name:
    N-fatty-acyl-amino acid synthase/hydrolase PM20D1
    Protein Accession:
    Q6GTS8
    Secondary Accessions:
    • Q6P4E3
    • Q96DM4

    Protein attributes for PM20D1 Gene

    Size:
    502 amino acids
    Molecular mass:
    55741 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PM20D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PM20D1 Gene

Post-translational modifications for PM20D1 Gene

  • Glycosylation at Asn 252
  • Modification sites at PhosphoSitePlus

Other Protein References for PM20D1 Gene

No data available for DME Specific Peptides for PM20D1 Gene

Domains & Families for PM20D1 Gene

Protein Domains for PM20D1 Gene

Suggested Antigen Peptide Sequences for PM20D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6GTS8

UniProtKB/Swiss-Prot:

P20D1_HUMAN :
  • Belongs to the peptidase M20A family.
Family:
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with PM20D1: view

No data available for Gene Families for PM20D1 Gene

Function for PM20D1 Gene

Molecular function for PM20D1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A N-fatty-acyl-L-amino acid + H2O = a fatty acid + an amino acid.
UniProtKB/Swiss-Prot Function:
Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration.

Enzyme Numbers (IUBMB) for PM20D1 Gene

Gene Ontology (GO) - Molecular Function for PM20D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008270 zinc ion binding IBA --
GO:0016787 hydrolase activity IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with PM20D1: view
genes like me logo Genes that share phenotypes with PM20D1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PM20D1

miRNA for PM20D1 Gene

miRTarBase miRNAs that target PM20D1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PM20D1 Gene

Localization for PM20D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PM20D1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PM20D1 Gene COMPARTMENTS Subcellular localization image for PM20D1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
golgi apparatus 1
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PM20D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PM20D1: view

Pathways & Interactions for PM20D1 Gene

SuperPathways for PM20D1 Gene

No Data Available

Interacting Proteins for PM20D1 Gene

Gene Ontology (GO) - Biological Process for PM20D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006520 cellular amino acid metabolic process IDA 27374330
GO:0008152 metabolic process IEA --
GO:0043171 peptide catabolic process IBA --
GO:0043604 amide biosynthetic process IDA 27374330
genes like me logo Genes that share ontologies with PM20D1: view

No data available for Pathways by source and SIGNOR curated interactions for PM20D1 Gene

Transcripts for PM20D1 Gene

Unigene Clusters for PM20D1 Gene

Peptidase M20 domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PM20D1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2: -
SP3: -

Relevant External Links for PM20D1 Gene

GeneLoc Exon Structure for
PM20D1
ECgene alternative splicing isoforms for
PM20D1

Expression for PM20D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PM20D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PM20D1 Gene

This gene is overexpressed in Pancreas (x28.2), Skin - Not Sun Exposed (Suprapubic) (x12.8), and Skin - Sun Exposed (Lower leg) (x4.0).

Protein differential expression in normal tissues from HIPED for PM20D1 Gene

This gene is overexpressed in Serum (55.2) and Plasma (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PM20D1 Gene



Protein tissue co-expression partners for PM20D1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PM20D1 Gene:

PM20D1

SOURCE GeneReport for Unigene cluster for PM20D1 Gene:

Hs.177744
genes like me logo Genes that share expression patterns with PM20D1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PM20D1 Gene

Orthologs for PM20D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PM20D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PM20D1 34 35
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia PM20D1 34 35
  • 84.4 (n)
rat
(Rattus norvegicus)
Mammalia Pm20d1 34
  • 80.74 (n)
mouse
(Mus musculus)
Mammalia Pm20d1 34 16 35
  • 80.58 (n)
dog
(Canis familiaris)
Mammalia PM20D1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PM20D1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PM20D1 34 35
  • 63.42 (n)
lizard
(Anolis carolinensis)
Reptilia PM20D1 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pm20d1 34
  • 61.72 (n)
zebrafish
(Danio rerio)
Actinopterygii pm20d1.1 34 35
  • 57.83 (n)
pm20d1.2 35
  • 47 (a)
OneToMany
Dr.14461 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPS1 34 35 37
  • 45.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL132W 34
  • 44.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06512g 34
  • 44.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11129 34
  • 46.09 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.08 34
  • 45.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
Species where no ortholog for PM20D1 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for PM20D1 Gene

ENSEMBL:
Gene Tree for PM20D1 (if available)
TreeFam:
Gene Tree for PM20D1 (if available)

Paralogs for PM20D1 Gene

Pseudogenes.org Pseudogenes for PM20D1 Gene

genes like me logo Genes that share paralogs with PM20D1: view

No data available for Paralogs for PM20D1 Gene

Variants for PM20D1 Gene

Sequence variations from dbSNP and Humsavar for PM20D1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10711483 -- 205,851,055(+) TGCTT(-/A)AAAAA intron-variant, upstream-variant-2KB
rs10900525 -- 205,840,514(+) GAAGG(C/G)GTGTC intron-variant
rs1104899 -- 205,845,357(+) GCCCC(A/G)ACCAT intron-variant, nc-transcript-variant, reference, missense
rs111250357 -- 205,834,673(+) ATGCA(C/T)GGTCT intron-variant, upstream-variant-2KB
rs111256722 -- 205,847,928(+) GTATT(A/G)GACTT intron-variant, nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PM20D1 Gene

Variant ID Type Subtype PubMed ID
esv1009208 CNV deletion 20482838
nsv1069227 CNV deletion 25765185
nsv1140241 OTHER inversion 24896259
nsv1142722 CNV deletion 24896259

Variation tolerance for PM20D1 Gene

Residual Variation Intolerance Score: 85.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.73; 98.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PM20D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PM20D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PM20D1 Gene

Disorders for PM20D1 Gene

Relevant External Links for PM20D1

Genetic Association Database (GAD)
PM20D1
Human Genome Epidemiology (HuGE) Navigator
PM20D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PM20D1

No disorders were found for PM20D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PM20D1 Gene

Publications for PM20D1 Gene

  1. The secreted enzyme PM20D1 regulates lipidated amino acid uncouplers of mitochondria. (PMID: 27374330) Long J.Z. … Spiegelman B.M. (Cell 2016) 3 4 64
  2. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (PMID: 19915576) Satake W. … Toda T. (Nat. Genet. 2009) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population. (PMID: 23269536) Sun J. … Mo Z. (Hum. Genet. 2013) 3 64
  5. An association between the PARK16 locus and Parkinson's disease in a cohort from eastern China. (PMID: 21840748) Yan Y.P. … Zhang B.R. (Parkinsonism Relat. Disord. 2011) 3 64

Products for PM20D1 Gene

Sources for PM20D1 Gene

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