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

Gene ID: 148811, updated on 8-Dec-2022

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; cellular amide catabolic process; and negative regulation of neuron death. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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

See PM20D1 in Genome Data Viewer
Location:
1q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205828025..205850132, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205092679..205114789, complement)
105.20220307 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 RAB29, member RAS oncogene family Neighboring gene solute carrier family 41 member 1 Neighboring gene Sharpr-MPRA regulatory region 4160 Neighboring gene uncharacterized LOC107985250 Neighboring gene PM20D1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 negative regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of oxidative phosphorylation uncoupler activity 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

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_152491.5NP_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, Q96DM4
    Related
    ENSP00000356104.4, ENST00000367136.5
    Conserved Domains (2) summary
    cd05674
    Location:53487
    M20_yscS; M20 Peptidase, carboxypeptidase yscS
    PRK08262
    Location:35490
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)