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

Summary

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, Dec 2024]
Expression: Biased expression in pancreas (RPKM 10.8), urinary bladder (RPKM 2.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.
Title: Comprehensive analysis of PM20D1 QTL in Alzheimer's disease.
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.
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.
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.

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Phenotypes

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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 EBI GWAS CatalogPubMed
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	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

EC 3.5.1.114

EC 3.5.1.14

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)

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

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