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

Gene ID: 135293, updated on 5-Mar-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 cellular protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 11.9), ovary (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6q15
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89093940..89165565)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90329918..90374228)
105.20220307 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
  • 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 (24) 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_2023_10

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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