U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

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

    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, Nov 2024]
    Expression
    Biased expression in pancreas (RPKM 10.8), urinary bladder (RPKM 2.6) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    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

    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

    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)

    NEW Try the new Transcript table

    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, Q6P4E3, 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: 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)