The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSe... See more...

Aliases for DPEP1 Gene

Aliases for DPEP1 Gene

  • Dipeptidase 1 2 3 4 5
  • Microsomal Dipeptidase 3 4
  • Dipeptidase 1 (Renal) 2 3
  • Dehydropeptidase-I 3 4
  • Renal Dipeptidase 3 4
  • Beta-Lactamase 3 4
  • EC 3.4.13.19 4 50
  • HRDP 3 4
  • MDP 3 4
  • RDP 3 4
  • Testicular Tissue Protein Li 57 3
  • EC 3.5.2.6 4
  • DPEP1 5
  • MBD1 3

External Ids for DPEP1 Gene

Previous GeneCards Identifiers for DPEP1 Gene

  • GC16P081008
  • GC16P090676
  • GC16P089390
  • GC16P089430
  • GC16P088214
  • GC16P089679
  • GC16P075374

Summaries for DPEP1 Gene

Entrez Gene Summary for DPEP1 Gene

  • The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]

GeneCards Summary for DPEP1 Gene

DPEP1 (Dipeptidase 1) is a Protein Coding gene. Diseases associated with DPEP1 include Blau Syndrome and Glutamate-Cysteine Ligase Deficiency. Among its related pathways are Busulfan Pathway, Pharmacodynamics and Arachidonic acid metabolism. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and dipeptidase activity. An important paralog of this gene is DPEP2.

UniProtKB/Swiss-Prot Summary for DPEP1 Gene

  • Hydrolyzes a wide range of dipeptides including the conversion of leukotriene D4 to leukotriene E4 (PubMed:2303490, PubMed:6334084, PubMed:31442408). Hydrolyzes cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (By similarity). Possesses also beta lactamase activity and hydrolytically inactivates beta-lactam antibiotics (PubMed:6334084).
  • Independently of its dipeptidase activity acts as an adhesion receptor for neutrophils recruitement from bloodstream into inflammed lungs and liver.

Gene Wiki entry for DPEP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPEP1 Gene

Genomics for DPEP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPEP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J089612 Promoter/Enhancer 1 Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 311 2.4 ZNF580 ZNF146 ZNF398 ZMYM3 KDM1A PRDM10 BCOR DPEP1 piR-31439 CDK10 CHMP1A SPIRE2 GAS8-AS1 piR-55985-070
GH16J089620 Promoter/Enhancer 1 EPDnew Ensembl CraniofacialAtlas 250.4 +7.1 7093 1.2 CEBPA ZFP64 NRF1 RBPJ TFAP4 GLIS1 DPEP1 DBNDD1 TUBB3 CHMP1A CDK10 piR-55985-070
GH16J089630 Promoter/Enhancer 0.7 EPDnew ENCODE 250.4 +16.9 16879 0.2 DRAP1 HNF1A DPEP1 HSALNG0113623 piR-55985-070 CHMP1A
GH16J089621 Promoter 0.6 EPDnew 250.4 +8.1 8143 0.1 ZIC2 RBPJ GLIS1 DPEP1 piR-55985-070 CHMP1A
GH16J089686 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 +74.0 73967 2.5 SP1 ZNF207 MYC IKZF1 ZNF592 ZMYM3 KLF9 POLR2A CEBPA CHD4 CDK10 LINC02166 HSALNG0113633 NONHSAG020359.2 DPEP1 VPS9D1 ZNF276 FANCA SPATA2L ENSG00000275734
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPEP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPEP1

Top Transcription factor binding sites by QIAGEN in the DPEP1 gene promoter:
  • AP-1
  • AP-4
  • c-Myc
  • E47
  • En-1
  • LUN-1
  • Max
  • NF-1

Genomic Locations for DPEP1 Gene

Latest Assembly
chr16:89,613,308-89,641,540
(GRCh38/hg38)
Size:
28,233 bases
Orientation:
Plus strand

Previous Assembly
chr16:89,679,716-89,704,841
(GRCh37/hg19 by Entrez Gene)
Size:
25,126 bases
Orientation:
Plus strand

chr16:89,679,716-89,704,839
(GRCh37/hg19 by Ensembl)
Size:
25,124 bases
Orientation:
Plus strand

Genomic View for DPEP1 Gene

Genes around DPEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPEP1 Gene

Proteins for DPEP1 Gene

  • Protein details for DPEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16444-DPEP1_HUMAN
    Recommended name:
    Dipeptidase 1
    Protein Accession:
    P16444
    Secondary Accessions:
    • D3DX80
    • Q96AK2

    Protein attributes for DPEP1 Gene

    Size:
    411 amino acids
    Molecular mass:
    45674 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for DPEP1 Gene

neXtProt entry for DPEP1 Gene

Selected DME Specific Peptides for DPEP1 Gene

P16444:
  • RNVPDDVL
  • APVIFSHS
  • DGHNDLP
  • IDSSLGVLR
  • CNTPWADNWLVD
  • VGGQFWS
  • GLEDVSKYPDL
  • THTNIPKL
  • SLVMVNF
  • WWLWPLVAVC

Post-translational modifications for DPEP1 Gene

  • Glycosylation at Asn57, Asn279, Asn332, and Asn358
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • DPEP1_HUMAN (1174)

Domains & Families for DPEP1 Gene

Gene Families for DPEP1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for DPEP1 Gene

InterPro:
Blocks:
  • Renal dipeptidase

Suggested Antigen Peptide Sequences for DPEP1 Gene

GenScript: Design optimal peptide antigens:
  • Renal dipeptidase (DPEP1_HUMAN)
  • DPEP1 protein (Q6I9V1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16444

UniProtKB/Swiss-Prot:

DPEP1_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family.
genes like me logo Genes that share domains with DPEP1: view

Function for DPEP1 Gene

Molecular function for DPEP1 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes a wide range of dipeptides including the conversion of leukotriene D4 to leukotriene E4 (PubMed:2303490, PubMed:6334084, PubMed:31442408). Hydrolyzes cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (By similarity). Possesses also beta lactamase activity and hydrolytically inactivates beta-lactam antibiotics (PubMed:6334084).
UniProtKB/Swiss-Prot Function:
Independently of its dipeptidase activity acts as an adhesion receptor for neutrophils recruitement from bloodstream into inflammed lungs and liver.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an L-aminoacyl-L-amino acid + H2O = 2 an L-alpha-amino acid; Xref=Rhea:RHEA:48940, ChEBI:CHEBI:15377, ChEBI:CHEBI:59869, ChEBI:CHEBI:77460; EC=3.4.13.19; Evidence={ECO:0000255|PROSITE-ProRule:PRU10073, ECO:0000269|PubMed:2303490};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + leukotriene D4 = glycine + leukotriene E4; Xref=Rhea:RHEA:48616, ChEBI:CHEBI:15377, ChEBI:CHEBI:57305, ChEBI:CHEBI:57462, ChEBI:CHEBI:63166; Evidence={ECO:0000269|PubMed:2303490};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-lactam + H2O = a substituted beta-amino acid; Xref=Rhea:RHEA:20401, ChEBI:CHEBI:15377, ChEBI:CHEBI:35627, ChEBI:CHEBI:140347; EC=3.5.2.6; Evidence={ECO:0000269|PubMed:6334084};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H2O + L-cystine-bis-glycine = 2 glycine + L-cystine; Xref=Rhea:RHEA:60520, ChEBI:CHEBI:15377, ChEBI:CHEBI:35491, ChEBI:CHEBI:57305, ChEBI:CHEBI:143812; Evidence={ECO:0000250|UniProtKB:P31428};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycyldehydrophenylalanine + H2O = 2,3-didehydrophenylalanine + glycine; Xref=Rhea:RHEA:62704, ChEBI:CHEBI:15377, ChEBI:CHEBI:57305, ChEBI:CHEBI:145925, ChEBI:CHEBI:145926; Evidence={ECO:0000269|PubMed:2303490, ECO:0000269|PubMed:31442408, ECO:0000269|PubMed:6334084};.
UniProtKB/Swiss-Prot Induction:
Up-regulated in n colorectal cancers.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.9 uM for imipenem {ECO:0000269|PubMed:6334084}; Vmax=44.5 umol/min/mg enzyme with imipenem as substrate {ECO:0000269|PubMed:6334084};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by L-penicillamine (PubMed:31442408). Beta-lactamase activity is inhibited by cilastatin (PubMed:6334084, PubMed:31442408).
GENATLAS Biochemistry:
dipeptidase 1 (renal)

Enzyme Numbers (IUBMB) for DPEP1 Gene

Phenotypes From GWAS Catalog for DPEP1 Gene

Gene Ontology (GO) - Molecular Function for DPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity TAS 2303490
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IDA 12144777
genes like me logo Genes that share ontologies with DPEP1: view
genes like me logo Genes that share phenotypes with DPEP1: view

Animal Models for DPEP1 Gene

MGI Knock Outs for DPEP1:

Animal Models for research

  • Taconic Biosciences Mouse Models for DPEP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPEP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPEP1 Gene

Localization for DPEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPEP1 Gene

Apical cell membrane. Lipid-anchor, GPI-anchor. Cell projection, microvillus membrane. Lipid-anchor, GPI-anchor. Note=Brush border membrane. {ECO:0000250 UniProtKB:P31429}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPEP1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 4
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space ISS --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IBA,TAS 20031578
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with DPEP1: view

Pathways & Interactions for DPEP1 Gene

genes like me logo Genes that share pathways with DPEP1: view

Pathways by source for DPEP1 Gene

Gene Ontology (GO) - Biological Process for DPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006691 leukotriene metabolic process TAS --
GO:0006749 glutathione metabolic process TAS 20031578
GO:0006751 glutathione catabolic process ISS --
genes like me logo Genes that share ontologies with DPEP1: view

No data available for SIGNOR curated interactions for DPEP1 Gene

Drugs & Compounds for DPEP1 Gene

(22) Drugs for DPEP1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cilastatin Approved, Investigational Pharma Inhibitor, Inhibition, Target 48
Imipenem Approved Pharma Enzyme, substrate 87
Zinc Approved, Investigational Pharma 1706
Doripenem Approved, Investigational Pharma Enzyme, substrate 31
Clavulanate Approved, Vet_approved Pharma inhibitor 0

(11) Additional Compounds for DPEP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DPEP1: view

Transcripts for DPEP1 Gene

mRNA/cDNA for DPEP1 Gene

8 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPEP1

Alternative Splicing Database (ASD) splice patterns (SP) for DPEP1 Gene

No ASD Table

Relevant External Links for DPEP1 Gene

GeneLoc Exon Structure for
DPEP1

Expression for DPEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPEP1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x19.2), Pancreas (x15.8), and Kidney - Cortex (x12.0).

Protein differential expression in normal tissues from HIPED for DPEP1 Gene

This gene is overexpressed in Urine (22.3), Ovary (18.4), Testis (13.1), and Kidney (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPEP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPEP1

SOURCE GeneReport for Unigene cluster for DPEP1 Gene:

Hs.109

mRNA Expression by UniProt/SwissProt for DPEP1 Gene:

P16444-DPEP1_HUMAN
Tissue specificity: Expressed in lung and kidneys.

Evidence on tissue expression from TISSUES for DPEP1 Gene

  • Eye(5)
  • Kidney(4.7)
  • Intestine(4.7)
  • Liver(4.7)
  • Muscle(3.3)
  • Lung(3.2)
  • Nervous system(3.2)
  • Spleen(2.9)
  • Heart(2.9)
  • Pancreas(2.9)
genes like me logo Genes that share expression patterns with DPEP1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPEP1 Gene

Orthologs for DPEP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DPEP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DPEP1 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DPEP1 29 30
  • 84.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DPEP1 29 30
  • 82.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dpep1 29
  • 77.42 (n)
Mouse
(Mus musculus)
Mammalia Dpep1 29 16 30
  • 76.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DPEP1 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DPEP1 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DPEP1 29 30
  • 71.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DPEP1 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dpep1 29
  • 61.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii dpep1 29 30
  • 61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6154 29 30 31
  • 57.63 (n)
ManyToMany
CG5917 31
  • 44 (a)
CG5282 30 31
  • 22 (a)
ManyToMany
CG34420 30
  • 19 (a)
ManyToMany
CG42750 30
  • 14 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002634 29
  • 57.18 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU09538 29
  • 54.38 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 52 (a)
ManyToMany
-- 30
  • 50 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3A11.10c 29
  • 47.73 (n)
Species where no ortholog for DPEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DPEP1 Gene

ENSEMBL:
Gene Tree for DPEP1 (if available)
TreeFam:
Gene Tree for DPEP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPEP1: view image
Alliance of Genome Resources:
Additional Orthologs for DPEP1

Paralogs for DPEP1 Gene

Paralogs for DPEP1 Gene

(2) SIMAP similar genes for DPEP1 Gene using alignment to 4 proteins:

  • DPEP1_HUMAN
  • H3BP43_HUMAN
  • H3BQS5_HUMAN
  • Q6I9V1_HUMAN
genes like me logo Genes that share paralogs with DPEP1: view

Variants for DPEP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPEP1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs104339736 A colorectal cancer sample p.Arg246His
rs1126464 -- p.Glu351Lysp.Glu351Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DPEP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DPEP1 Gene

Variant ID Type Subtype PubMed ID
dgv1388n106 CNV deletion 24896259
esv1242032 CNV insertion 17803354
esv1355826 CNV insertion 17803354
esv24216 CNV loss 19812545
esv2676847 CNV deletion 23128226
esv2715182 CNV deletion 23290073
esv2715183 CNV deletion 23290073
esv2715184 CNV deletion 23290073
esv2715186 CNV deletion 23290073
esv2715187 CNV deletion 23290073
esv2715188 CNV deletion 23290073
esv2762221 CNV gain+loss 21179565
esv3639589 CNV loss 21293372
esv3639590 CNV loss 21293372
esv7562 CNV gain 19470904
nsv103438 CNV deletion 16902084
nsv1057351 CNV loss 25217958
nsv1063483 CNV gain 25217958
nsv1066382 CNV gain 25217958
nsv1071350 CNV deletion 25765185
nsv1071351 CNV deletion 25765185
nsv1123085 CNV deletion 24896259
nsv1141743 CNV deletion 24896259
nsv1149554 CNV insertion 26484159
nsv1929 CNV insertion 18451855
nsv1930 CNV insertion 18451855
nsv428331 CNV gain+loss 18775914
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573738 CNV loss 21841781
nsv573739 CNV gain 21841781
nsv952078 CNV deletion 24416366

Variation tolerance for DPEP1 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPEP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPEP1
Leiden Open Variation Database (LOVD)
DPEP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPEP1 Gene

Disorders for DPEP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DPEP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
blau syndrome
  • blaus
glutamate-cysteine ligase deficiency
  • gamma-glutamylcysteine synthetase deficiency
bacterial infectious disease
  • bacterial infections
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search DPEP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPEP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DPEP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPEP1 Gene

Publications for DPEP1 Gene

  1. Crystal structure of human renal dipeptidase involved in beta-lactam hydrolysis. (PMID: 12144777) Nitanai Y … Tsujimoto M (Journal of molecular biology 2002) 3 4 22
  2. Gene structural analysis and expression of human renal dipeptidase. (PMID: 7764673) Satoh S … Kohsaka M (Biotechnology progress 1994) 3 4 22
  3. Importance of Glu-125 in the catalytic activity of human renal dipeptidase. (PMID: 8097406) Adachi H … Tsujimoto M (Biochimica et biophysica acta 1993) 3 4 22
  4. Primary structure of human microsomal dipeptidase deduced from molecular cloning. (PMID: 2303490) Adachi H … Nakazato H (The Journal of biological chemistry 1990) 3 4 22
  5. Characterization of the glycosyl-phosphatidylinositol-anchored human renal dipeptidase reveals that it is more extensively glycosylated than the pig enzyme. (PMID: 2137335) Hooper NM … Turner AJ (The Biochemical journal 1990) 3 4 22

Products for DPEP1 Gene

Sources for DPEP1 Gene