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    PEPD peptidase D [ Homo sapiens (human) ]

    Gene ID: 5184, updated on 8-Oct-2017
    Official Symbol
    PEPDprovided by HGNC
    Official Full Name
    peptidase Dprovided by HGNC
    Primary source
    HGNC:HGNC:8840
    See related
    Ensembl:ENSG00000124299 MIM:613230; Vega:OTTHUMG00000180470
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PROLIDASE
    Summary
    This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    19q13.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (33386949..33521893, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33877855..34012799, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 7 Neighboring gene CCAAT/enhancer binding protein gamma Neighboring gene uncharacterized LOC105372370 Neighboring gene uncharacterized LOC100996681

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Prolidase deficiency
    MedGen: C0268532 OMIM: 170100 GeneReviews: Prolidase Deficiency
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    NHGRI GWA Catalog
    A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    NHGRI GWA Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10905

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metallocarboxypeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    proline dipeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular amino acid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    collagen catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    xaa-Pro dipeptidase
    Names
    X-Pro dipeptidase
    aminoacyl-L-proline hydrolase
    imidodipeptidase
    proline dipeptidase
    testicular tissue protein Li 138
    NP_000276.2
    NP_001159528.1
    NP_001159529.1

    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.

    Genomic

    1. NG_013358.1 RefSeqGene

      Range
      5001..139945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000285.3NP_000276.2  xaa-Pro dipeptidase isoform 1

      See identical proteins and their annotated locations for NP_000276.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AW512991, BC015027, DC395475
      Consensus CDS
      CCDS42544.1
      UniProtKB/Swiss-Prot
      P12955
      UniProtKB/TrEMBL
      A0A140VJR2
      Related
      ENSP00000244137.5, OTTHUMP00000264333, ENST00000244137.11, OTTHUMT00000451432
      Conserved Domains (2) summary
      smart01011
      Location:18155
      AMP_N; Aminopeptidase P, N-terminal domain
      cd01087
      Location:192467
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
    2. NM_001166056.1NP_001159528.1  xaa-Pro dipeptidase isoform 2

      See identical proteins and their annotated locations for NP_001159528.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK294619, AW512991, DC395475
      Consensus CDS
      CCDS54245.1
      UniProtKB/Swiss-Prot
      P12955
      Related
      ENSP00000380226.3, OTTHUMP00000264334, ENST00000397032.8, OTTHUMT00000451433
      Conserved Domains (3) summary
      smart01011
      Location:18155
      AMP_N; Aminopeptidase P, N-terminal domain
      COG0006
      Location:60435
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      cd01087
      Location:160426
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
    3. NM_001166057.1NP_001159529.1  xaa-Pro dipeptidase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK293126, AW512991, BC015027, DC395475
      Consensus CDS
      CCDS54244.1
      UniProtKB/Swiss-Prot
      P12955
      Related
      ENSP00000391890.2, OTTHUMP00000264335, ENST00000436370.7, OTTHUMT00000451434
      Conserved Domains (2) summary
      cd01087
      Location:128403
      Prolidase; Prolidase. E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on ...
      cl23800
      Location:1867
      Creatinase_N; Creatinase/Prolidase N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      33386949..33521893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      33878802..34013898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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