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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. Gene Ontology (GO) annotations related to this gene include hydrolase activity and peptidase activity. An important paralog of this gene is ABHD14A-ACY1.

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.

Additional gene information for PM20D1 Gene

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

Genomics for PM20D1 Gene

GeneHancer (GH) Regulatory Elements for PM20D1 Gene

Promoters and enhancers for PM20D1 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
GH01J205849 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +0.0 25 1.3 SP1 ZNF316 RXRA POLR2A NFYB FOS NR2F2 PM20D1 SLC41A1 RAB29
GH01J205811 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 50.1 +37.4 37439 3.3 HDGF PKNOX1 CLOCK ARNT SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 SLC41A1 GC01P205813 PM20D1 MAPKAPK2 GC01M205795
GH01J205747 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE 34.5 +100.4 100433 4.1 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC NUCKS1 ELK4 EIF2D PM20D1 RAB29 LOC100420878 RPL7AP20 LOC101929459 ENSG00000236108 DSTYK
GH01J205772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 35.8 +75.6 75614 4.7 HDGF CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 SLC30A9 RAB29 LOC105371702 PM20D1 ELK4 NUCKS1
GH01J205674 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.4 +172.3 172283 6.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT SIN3A ZNF2 ZNF766 FOS SP3 SLC45A3 PM20D1 RAB29 TMCC2 CDK18 MFSD4A DSTYK LOC105371701 ELK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PM20D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PM20D1 gene promoter:
  • AREB6
  • ATF6
  • PPAR-gamma2
  • PPAR-gamma1
  • c-Myc
  • Max1
  • HFH-1
  • CBF(2)
  • NF-Y

Genomic Locations for PM20D1 Gene

Genomic Locations for PM20D1 Gene
chr1:205,828,022-205,850,148
(GRCh38/hg38)
Size:
22,127 bases
Orientation:
Minus strand
chr1:205,797,150-205,819,276
(GRCh37/hg19)
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 isoforms=2252
  • 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

Gene Families for PM20D1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

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

Function for PM20D1 Gene

Molecular function for PM20D1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
A N-fatty-acyl-L-amino acid + H2O = a fatty acid + an amino acid.

Enzyme Numbers (IUBMB) for PM20D1 Gene

Phenotypes From GWAS Catalog 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: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 --
GO:0046872 metal ion binding 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

miRNA for PM20D1 Gene

miRTarBase miRNAs that target PM20D1

Clone 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
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 PM20D1 gene
Compartment Confidence
extracellular 5
mitochondrion 2
endoplasmic reticulum 2
plasma membrane 1
lysosome 1
golgi apparatus 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 HDA 19056867
genes like me logo Genes that share ontologies with PM20D1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PM20D1 Gene

Pathways & Interactions for PM20D1 Gene

SuperPathways for PM20D1 Gene

No Data Available

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,IEA 27374330
GO:0008152 metabolic process IEA --
GO:0043604 amide biosynthetic process IDA 27374330
GO:0043605 cellular amide catabolic 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

Drugs & Compounds for PM20D1 Gene

No Compound Related Data Available

Transcripts for PM20D1 Gene

mRNA/cDNA for PM20D1 Gene

Unigene Clusters for PM20D1 Gene

Peptidase M20 domain containing 1:
Representative Sequences:

Clone 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 CGAP 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 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

Evidence on tissue expression from TISSUES for PM20D1 Gene

  • Pancreas(4.3)
  • Kidney(4.2)
  • Skin(4.1)
  • Spleen(4)
genes like me logo Genes that share expression patterns with PM20D1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PM20D1 34 33
  • 84.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pm20d1 33
  • 80.74 (n)
mouse
(Mus musculus)
Mammalia Pm20d1 16 34 33
  • 80.58 (n)
dog
(Canis familiaris)
Mammalia PM20D1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PM20D1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PM20D1 34 33
  • 63.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PM20D1 34
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pm20d1 33
  • 61.72 (n)
zebrafish
(Danio rerio)
Actinopterygii pm20d1.1 34 33
  • 57.83 (n)
OneToMany
pm20d1.2 34
  • 47 (a)
OneToMany
Dr.14461 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPS1 36 34 33
  • 45.03 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL132W 33
  • 44.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06512g 33
  • 44.29 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11129 33
  • 46.09 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24C9.08 33
  • 45.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
-- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PM20D1: view image

Paralogs for PM20D1 Gene

Paralogs for PM20D1 Gene

Pseudogenes.org Pseudogenes for PM20D1 Gene

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

Variants for PM20D1 Gene

Sequence variations from dbSNP and Humsavar for PM20D1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000101072 -- 205,823,286(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000119022 -- 205,828,713(-) G/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1000128678 -- 205,831,787(-) C/T intron_variant
rs1000203621 -- 205,817,603(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000215906 -- 205,833,911(-) G/A intron_variant

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)

Additional Variant Information 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

Additional Disease Information for PM20D1

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

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 JZ … Spiegelman BM (Cell 2016) 3 4 58
  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 (Nature genetics 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. 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 (Human genetics 2013) 3 58

Products for PM20D1 Gene

Sources for PM20D1 Gene

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