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PM20D1 peptidase M20 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 148811, updated on 2-Nov-2024

Summary

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Official Symbol
PM20D1provided by HGNC
Official Full Name
peptidase M20 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26518
See related
Ensembl:ENSG00000162877 MIM:617124; AllianceGenome:HGNC:26518
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
Also known as
Cps1
Summary
Enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including amide biosynthetic process; amide catabolic process; and cellular lipid metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in pancreas (RPKM 10.8), urinary bladder (RPKM 2.6) and 3 other tissues See more
Orthologs
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Genomic context

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See PM20D1 in Genome Data Viewer
Location:
1q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205828025..205850132, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205092679..205114789, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205797153..205819260, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2389 Neighboring gene RAB29, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2390 Neighboring gene solute carrier family 41 member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205769142-205770092 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205779391-205779622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205782120-205782620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205803433-205803932 Neighboring gene Sharpr-MPRA regulatory region 4160 Neighboring gene uncharacterized LOC107985250 Neighboring gene PM20D1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:205839492-205839993

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

Bibliography

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Related articles in PubMed

  1. Clinical Significance of Peptidase M20 Domain Containing 1 Ii Patients with Carotid Atherosclerosis. Huang X, et al. Arq Bras Cardiol, 2022 Sep. PMID 35544855, Free PMC Article
  2. PM20D1 is a circulating biomarker closely associated with obesity, insulin resistance and metabolic syndrome. Yang R, et al. Eur J Endocrinol, 2021 Dec 10. PMID 34757919
  3. Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer's disease and implicate its dynamic role in disease progression. Wang Q, et al. Clin Epigenetics, 2020 Dec 9. PMID 33298155, Free PMC Article
  4. Comprehensive analysis of PM20D1 QTL in Alzheimer's disease. Sanchez-Mut JV, et al. Clin Epigenetics, 2020 Feb 3. PMID 32014019, Free PMC Article
  5. PM20D1 is a quantitative trait locus associated with Alzheimer's disease. Sanchez-Mut JV, et al. Nat Med, 2018 May. PMID 29736028

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Significance of Peptidase M20 Domain Containing 1 Ii Patients with Carotid Atherosclerosis.", trans "Significado Clinico do Dominio da Peptidase M20 Contendo 1 em Pacientes com Aterosclerose Carotidea.
    Title: Clinical Significance of Peptidase M20 Domain Containing 1 Ii Patients with Carotid Atherosclerosis.
  2. PM20D1 is a circulating biomarker closely associated with obesity, insulin resistance and metabolic syndrome.
    Title: PM20D1 is a circulating biomarker closely associated with obesity, insulin resistance and metabolic syndrome.
  3. Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer's disease and implicate its dynamic role in disease progression.
    Title: Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer's disease and implicate its dynamic role in disease progression.
  4. Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.
    Title: Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.
  5. Cooperative enzymatic control of N-acyl amino acids by PM20D1 and FAAH.
    Title: Cooperative enzymatic control of N-acyl amino acids by PM20D1 and FAAH.
  6. upstream variant determines PPARgamma regulation of PM20D1 in adipocytes; distinct variants downstream of the transcription start site have strong effects on PM20D1 expression in human fat as well as other tissues
    Title: Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene.
  7. These findings suggest that in a particular genetic background, PM20D1 contributes to neuroprotection against Alzheimer's disease.
    Title: PM20D1 is a quantitative trait locus associated with Alzheimer's disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.
EBI GWAS Catalog
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of peptidase M20 domain containing 1 (PM20D1; FLJ32569) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ32569

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminoacylase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides EXP
Inferred from Experiment
more info
 PubMed 
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in adaptive thermogenesis TAS
Traceable Author Statement
more info
  
involved_in amide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in amide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in amide catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amino acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in amino acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular lipid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in energy homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
N-fatty-acyl-amino acid synthase/hydrolase PM20D1
Names
peptidase M20 domain-containing protein 1
probable carboxypeptidase PM20D1
NP_689704.4

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_152491.5 → NP_689704.4  N-fatty-acyl-amino acid synthase/hydrolase PM20D1 precursor

    See identical proteins and their annotated locations for NP_689704.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AC119673, BC063477, BM987801, DA387977
    Consensus CDS
    CCDS1460.1
    UniProtKB/Swiss-Prot
    Q6GTS8, Q6P4E3, Q96DM4
    Related
    ENSP00000356104.4, ENST00000367136.5
    Conserved Domains (2) summary
    cd05674
    Location:53 → 487
    M20_yscS; M20 Peptidase, carboxypeptidase yscS
    PRK08262
    Location:35 → 490
    PRK08262; hypothetical protein; Provisional

RNA

  1. NR_135186.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, 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)
    AC119673, AK057131, BM987801
    Related
    ENST00000460624.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    205828025..205850132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    205092679..205114789 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6GTS8.3 GenPept UniProtKB/Swiss-Prot:Q6GTS8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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