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    PM20D2 peptidase M20 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 135293, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PM20D2provided by HGNC
    Official Full Name
    peptidase M20 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:21408
    See related
    Ensembl:ENSG00000146281 MIM:615913; AllianceGenome:HGNC:21408
    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
    ACY1L2
    Summary
    Enables dipeptidase activity and identical protein binding activity. Acts upstream of or within proteolysis and regulation of protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 11.9), ovary (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PM20D2 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89093940..89165565)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90329918..90374228)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89855774..89875284)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17383 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:89791183-89792143 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89794226-89794753 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89794754-89795280 Neighboring gene RNA, 7SL, cytoplasmic 336, pseudogene Neighboring gene proline rich nuclear receptor coactivator 1 Neighboring gene serine and arginine rich splicing factor 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24819 Neighboring gene Sharpr-MPRA regulatory region 5254 Neighboring gene uncharacterized LOC101929004 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:89843600-89844238 Neighboring gene NANOG hESC enhancer GRCh37_chr6:89844239-89844876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17386 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24820 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17388 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:90007048-90008247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24822 Neighboring gene tubulin beta 3 class III pseudogene 1

    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. Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase. Veiga-da-Cunha M, et al. J Biol Chem, 2014 Jul 11. PMID 24891507, Free PMC Article
    2. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article
    3. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. Wang T, et al. Neurobiol Aging, 2015 Jan. PMID 25192599
    4. A conserved acetylation switch enables pharmacological control of tubby-like protein stability. Kerek EM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33187986, Free PMC Article
    5. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PM20D2 hydrolyzed beta-alanyl-lysine, beta-alanyl-ornithine, gamma-aminobutyryl-lysine, and gamma-aminobutyryl-ornithine as its best substrates.
      Title: Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase.
    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
    An atlas of genetic influences on human blood metabolites.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dipeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dipeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables para-aminobenzoyl-glutamate hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in folic acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of protein metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    xaa-Arg dipeptidase
    Names
    I(2)-alanyl-lysine dipeptidase
    aminoacylase-1-like protein 2
    beta-Ala-Lys dipeptidase
    beta-alanyl-lysine dipeptidase
    NP_001010853.1
    XP_005248719.1
    XP_011533783.1
    XP_016865778.1
    XP_047274175.1
    XP_047274176.1
    XP_047274177.1
    XP_054210283.1
    XP_054210284.1
    XP_054210285.1
    XP_054210286.1

    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_001010853.3 → NP_001010853.1  xaa-Arg dipeptidase

      See identical proteins and their annotated locations for NP_001010853.1

      Status: VALIDATED

      Source sequence(s)
      AA503266, AK302464, AL353135, BC035036
      Consensus CDS
      CCDS34499.1
      UniProtKB/Swiss-Prot
      B4DYJ2, Q5T7J9, Q6MZV2, Q86XD9, Q8IYS1
      Related
      ENSP00000275072.4, ENST00000275072.5
      Conserved Domains (1) summary
      cd05672
      Location:31 → 406
      M20_ACY1L2_like; M20 Peptidase Aminoacylase 1-like protein 2-like, amidohydrolase subfamily

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      89093940..89165565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418220.1 → XP_047274176.1  xaa-Arg dipeptidase isoform X3

    2. XM_047418221.1 → XP_047274177.1  xaa-Arg dipeptidase isoform X3

    3. XM_011535481.4 → XP_011533783.1  xaa-Arg dipeptidase isoform X3

      See identical proteins and their annotated locations for XP_011533783.1

      Conserved Domains (1) summary
      cl14876
      Location:1 → 220
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    4. XM_005248662.5 → XP_005248719.1  xaa-Arg dipeptidase isoform X3

      See identical proteins and their annotated locations for XP_005248719.1

      Conserved Domains (1) summary
      cl14876
      Location:1 → 220
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    5. XM_017010289.2 → XP_016865778.1  xaa-Arg dipeptidase isoform X1

    6. XM_047418219.1 → XP_047274175.1  xaa-Arg dipeptidase isoform X2

    RNA

    1. XR_007059208.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      90329918..90374228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354310.1 → XP_054210285.1  xaa-Arg dipeptidase isoform X3

    2. XM_054354308.1 → XP_054210283.1  xaa-Arg dipeptidase isoform X1

    3. XM_054354309.1 → XP_054210284.1  xaa-Arg dipeptidase isoform X2

    4. XM_054354311.1 → XP_054210286.1  xaa-Arg dipeptidase isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYS1.2 GenPept UniProtKB/Swiss-Prot:Q8IYS1

    Gene LinkOut

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