DNPEP Gene (Protein Coding)

Aspartyl Aminopeptidase

GC02M219373
GIFtS:
40
The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] See more...

Aliases for DNPEP Gene

Aliases for DNPEP Gene

  • Aspartyl Aminopeptidase 2 3 4 5
  • ASPEP 2 3 4
  • DAP 2 3 4
  • EC 3.4.11.21 4 50
  • DNPEP 5

External Ids for DNPEP Gene

Previous GeneCards Identifiers for DNPEP Gene

  • GC02M218261
  • GC02M218959
  • GC02M220201
  • GC02M220440
  • GC02M220063
  • GC02M219946
  • GC02M220238
  • GC02M212091

Summaries for DNPEP Gene

Entrez Gene Summary for DNPEP Gene

  • The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for DNPEP Gene

DNPEP (Aspartyl Aminopeptidase) is a Protein Coding gene. Diseases associated with DNPEP include Nemaline Myopathy 9 and Tarsal-Carpal Coalition Syndrome. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and aminopeptidase activity.

UniProtKB/Swiss-Prot Summary for DNPEP Gene

  • Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism.

Gene Wiki entry for DNPEP Gene

Additional gene information for DNPEP Gene

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

Genomics for DNPEP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNPEP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DNPEP gene promoter:
  • ATF-2
  • c-Jun
  • FOXO1
  • FOXO1a
  • MyoD
  • TBP

Genomic Locations for DNPEP Gene

Latest Assembly
chr2:219,372,043-219,400,022
(GRCh38/hg38)
Size:
27,980 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,236,765-220,264,729
(GRCh37/hg19 by Entrez Gene)
Size:
27,965 bases
Orientation:
Minus strand

chr2:220,238,268-220,264,744
(GRCh37/hg19 by Ensembl)
Size:
26,477 bases
Orientation:
Minus strand

Genomic View for DNPEP Gene

Genes around DNPEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DNPEP Gene

Proteins for DNPEP Gene

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

    Protein Symbol:
    Q9ULA0-DNPEP_HUMAN
    Recommended name:
    Aspartyl aminopeptidase
    Protein Accession:
    Q9ULA0
    Secondary Accessions:
    • Q9BW44
    • Q9NUV5
    • Q9NV55

    Protein attributes for DNPEP Gene

    Size:
    485 amino acids
    Molecular mass:
    53410 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Tetrahedron-shaped homododecamer built from six homodimers.
    SequenceCaution:
    • Sequence=AAD01211.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH00653.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91903.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNPEP Gene

    Alternative splice isoforms for DNPEP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNPEP Gene

Protein Expression for DNPEP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DNPEP Gene

Q9ULA0:
  • QEELEKGTPEPGPL
  • KHEENHRP
  • AMHSIRE
  • FHKGPVIKVNSKQRYASNAVSE
  • RPILRIPHLAIHLQRN
  • SADMAHA
  • GAHTDSP
  • TAFEEAI
  • NENFGPN
  • QVGVETYGG

Post-translational modifications for DNPEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNPEP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for DNPEP
  • Santa Cruz Biotechnology (SCBT) Antibodies for DNPEP

Domains & Families for DNPEP Gene

Gene Families for DNPEP Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DNPEP Gene

InterPro:
Blocks:
  • Aminopeptidase I zinc metalloprotease (M18) signature

Suggested Antigen Peptide Sequences for DNPEP Gene

GenScript: Design optimal peptide antigens:
  • Aspartyl aminopeptidase (DNPEP_HUMAN)
  • DNPEP protein (Q9BSS9_HUMAN)
  • cDNA FLJ11809 fis, clone HEMBA1006309, highly similar to Homo sapiens aspartyl aminopeptidase mRNA (Q9HAC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULA0

UniProtKB/Swiss-Prot:

DNPEP_HUMAN :
  • Belongs to the peptidase M18 family.
Family:
  • Belongs to the peptidase M18 family.
genes like me logo Genes that share domains with DNPEP: view

Function for DNPEP Gene

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  6. Cell Lines for research

Molecular function for DNPEP Gene

UniProtKB/Swiss-Prot Function:
Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of an N-terminal aspartate or glutamate from a peptide, with a preference for aspartate.; EC=3.4.11.21; Evidence={ECO:0000269|PubMed:9632644};.
UniProtKB/Swiss-Prot EnzymeRegulation:
One of the zinc ions is readily exchangeable with other divalent cations such as manganese, which strongly stimulates the enzymatic activity.

Enzyme Numbers (IUBMB) for DNPEP Gene

Phenotypes From GWAS Catalog for DNPEP Gene

Gene Ontology (GO) - Molecular Function for DNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with DNPEP: view
genes like me logo Genes that share phenotypes with DNPEP: view

Animal Models for DNPEP Gene

MGI Knock Outs for DNPEP:
  • Dnpep Dnpep<tm1e(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for DNPEP

Inhibitory RNAs for research

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

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

Localization for DNPEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNPEP Gene

Cytoplasm.

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 DNPEP gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm TAS 9632644
GO:0005829 cytosol IDA --
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with DNPEP: view

Pathways & Interactions for DNPEP Gene

PathCards logo

SuperPathways for DNPEP Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006518 peptide metabolic process TAS 9632644
genes like me logo Genes that share ontologies with DNPEP: view

No data available for Pathways by source and SIGNOR curated interactions for DNPEP Gene

Drugs & Compounds for DNPEP Gene

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(1) Drugs for DNPEP Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Target 324
genes like me logo Genes that share compounds with DNPEP: view

Transcripts for DNPEP Gene

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mRNA/cDNA for DNPEP Gene

8 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
21 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 DNPEP

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

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - -
SP5: - - - - - - - - -
SP6: - -
SP7: -
SP8:
SP9:
SP10:
SP11: -

ExUns: 15b ^ 16a · 16b · 16c ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DNPEP Gene

GeneLoc Exon Structure for
DNPEP

Expression for DNPEP Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for DNPEP Gene
mRNA expression by GTEx for DNPEP GenemRNA expression by BioGPS for DNPEP Gene

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



Protein tissue co-expression partners for DNPEP Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for DNPEP Gene:

Hs.258551

mRNA Expression by UniProt/SwissProt for DNPEP Gene:

Q9ULA0-DNPEP_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DNPEP Gene

  • Liver(4.5)
  • Eye(4.2)
  • Nervous system(3.9)
  • Intestine(3.2)
  • Kidney(3)
  • Adrenal gland(2.8)
  • Thyroid gland(2.7)
  • Gall bladder(2.3)
  • Lung(2.3)
  • Stomach(2.3)
  • Muscle(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with DNPEP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNPEP Gene

Orthologs for DNPEP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNPEP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNPEP 29 30
  • 99.09 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNPEP 29 30
  • 89.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNPEP 29 30
  • 89.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnpep 29
  • 86.53 (n)
Mouse
(Mus musculus)
 Mammalia Dnpep 29 16 30
  • 86.46 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNPEP 30
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNPEP 29 30
  • 74.8 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNPEP 30
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnpep 29
  • 70.24 (n)
Str.2142 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.20819 29
Zebrafish
(Danio rerio)
 Actinopterygii dnpep 29 30
  • 68.03 (n)
 OneToOne
zgc55944 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10876 29
Worm
(Caenorhabditis elegans)
 Secernentea dnpp-1 29 30
  • 55.51 (n)
 OneToOne
F01F1.9 31
  • 50 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E21297g 29
  • 51.1 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes APE4 29 30 32
  • 49.41 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G60160 29
  • 54.24 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.1803 29
Rice
(Oryza sativa)
 Liliopsida Os12g0236500 29
  • 54.57 (n)
Os.16710 29
Barley
(Hordeum vulgare)
 Liliopsida Hv.1571 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.7128 29
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00122 29
  • 57.52 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10534 30
  • 54 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes aap1 29
  • 49.56 (n)
Species where no ortholog for DNPEP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DNPEP Gene

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

Paralogs for DNPEP Gene

No data available for Paralogs for DNPEP Gene

Variants for DNPEP Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs6742404 Benign: not provided 219,386,047(-) T/C
NM_012100.4(DNPEP):c.511A>G (p.Ile171Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs77447846 Benign: not provided 219,382,145(-) G/A
NM_012100.4(DNPEP):c.937-6C>T 		INTRON

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

Variant ID Type Subtype PubMed ID
nsv1126577 CNV deletion 24896259
nsv834543 CNV loss 17160897

Variation tolerance for DNPEP Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.01; 60.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNPEP Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DNPEP Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNPEP Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search DNPEP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNPEP

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 DNPEP: view

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

Publications for DNPEP Gene

  1. Purification, characterization, and cloning of a cytosolic aspartyl aminopeptidase. (PMID: 9632644) Wilk S … Magnusson RP (The Journal of biological chemistry 1998) 2 3 4 22
  2. Structure of human aspartyl aminopeptidase complexed with substrate analogue: insight into catalytic mechanism, substrate specificity and M18 peptidase family. (PMID: 22720794) Chaikuad A … Yue WW (BMC structural biology 2012) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Identification of histidine residues important in the catalysis and structure of aspartyl aminopeptidase. (PMID: 12413488) Wilk S … Magnusson RP (Archives of biochemistry and biophysics 2002) 3 22

ExternalLinks

View latest publications for DNPEP gene in Mastermind

Products for DNPEP Gene

  • Addgene plasmids for DNPEP

Sources for DNPEP Gene