Display Settings:

Format

Send to:

Choose Destination

PEPD peptidase D [ Homo sapiens (human) ]

Gene ID: 5184, updated on 29-Jul-2014
Official Symbol
PEPDprovided by HGNC
Official Full Name
peptidase Dprovided by HGNC
Primary source
HGNC:8840
See related
Ensembl:ENSG00000124299; HPRD:01358; 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]
See PEPD in Epigenomics, MapViewer
Location:
19q13.11
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (C/EBP), gamma Neighboring gene uncharacterized LOC100996681 Neighboring gene ribosomal protein L21 pseudogene 131

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Prolidase deficiency
MedGen: C0268532 OMIM: 170100 GeneReviews: Not available
not available

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
 
dipeptidase 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 
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 vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
xaa-Pro dipeptidase
Names
xaa-Pro dipeptidase
imidodipeptidase
X-Pro dipeptidase
proline dipeptidase
aminoacyl-L-proline hydrolase
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 

    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 proteins identical to 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
    Related
    ENSP00000244137, OTTHUMP00000264333, ENST00000244137, OTTHUMT00000451432
    Conserved Domains (3) summary
    PRK10879
    Location:27481
    Blast Score: 606
    PRK10879; proline aminopeptidase P II; Provisional
    smart01011
    Location:18155
    Blast Score: 358
    AMP_N; Aminopeptidase P, N-terminal domain
    cd01087
    Location:192467
    Blast Score: 970
    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 proteins identical to 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, OTTHUMP00000264334, ENST00000397032, OTTHUMT00000451433
    Conserved Domains (3) summary
    COG0006
    Location:60435
    Blast Score: 445
    PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
    cd01087
    Location:160426
    Blast Score: 842
    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 ...
    pfam05195
    Location:18136
    Blast Score: 358
    AMP_N; Aminopeptidase P, N-terminal domain
  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, OTTHUMP00000264335, ENST00000436370, OTTHUMT00000451434
    Conserved Domains (2) summary
    cd01087
    Location:128403
    Blast Score: 969
    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 ...
    cl08433
    Location:1867
    Blast Score: 118
    AMP_N; Aminopeptidase P, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    30378491..30405183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. AC_000151.1 

    Range
    30454304..30512607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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