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Aliases for ENPEP Gene

Aliases for ENPEP Gene

  • Glutamyl Aminopeptidase 2 3 5
  • Differentiation Antigen Gp160 3 4
  • Aminopeptidase A 3 4
  • EC 3.4.11.7 4 58
  • AP-A 3 4
  • EAP 3 4
  • Glutamyl Aminopeptidase (Aminopeptidase A) 2
  • CD249 Antigen 4
  • EC 3.4.11 58
  • CD249 3
  • Gp160 3
  • APA 3

External Ids for ENPEP Gene

Previous GeneCards Identifiers for ENPEP Gene

  • GC04P111803
  • GC04P111679
  • GC04P111856
  • GC04P111754
  • GC04P111397
  • GC04P111286
  • GC04P107128

Summaries for ENPEP Gene

GeneCards Summary for ENPEP Gene

ENPEP (Glutamyl Aminopeptidase) is a Protein Coding gene. Diseases associated with ENPEP include Neurogenic Hypertension and Gestational Choriocarcinoma. Among its related pathways are Peptide hormone metabolism and Metabolism of proteins. GO annotations related to this gene include peptidase activity and aminopeptidase activity. An important paralog of this gene is ERAP2.

UniProtKB/Swiss-Prot for ENPEP Gene

  • Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells.

Additional gene information for ENPEP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENPEP Gene

Genomics for ENPEP Gene

Regulatory Elements for ENPEP Gene

Enhancers for ENPEP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H110484 1.1 Ensembl ENCODE 33.1 +120.8 120758 4 FOXA2 NFIB ARID4B BMI1 RAD21 YY1 SCRT2 FOS ATF7 RUNX3 ENPEP GC04M110483 ENSG00000199894 GC04M110434
GH04H110509 0.6 ENCODE 31 +144.6 144614 1 CTCF ZNF654 SMC3 ZNF143 REST RAD21 ENPEP RNU6-35P EGF GC04P110502 ENSG00000250511
GH04H110413 0.5 ENCODE 34 +49.0 49039 2 HLF CEBPB CEBPG ENPEP ZNF969P RPL7L1P13
GH04H110475 0.7 ENCODE 23.8 +110.5 110515 1 TAF1 FEZF1 RAD21 YY1 ZFHX2 GLIS2 SCRT2 PRDM10 EGR2 REST ENPEP ENSG00000250511 ELOVL6 GC04M110483 GC04M110434 ENSG00000199894
GH04H110503 0.4 Ensembl 40 +138.0 138027 0 TRIM28 ENPEP RNU6-35P EGF GC04P110502 ENSG00000250511
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENPEP on UCSC Golden Path with GeneCards custom track

Genomic Location for ENPEP Gene

Chromosome:
4
Start:
110,365,733 bp from pter
End:
110,565,285 bp from pter
Size:
199,553 bases
Orientation:
Plus strand

Genomic View for ENPEP Gene

Genes around ENPEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ENPEP Gene

Proteins for ENPEP Gene

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

    Protein Symbol:
    Q07075-AMPE_HUMAN
    Recommended name:
    Glutamyl aminopeptidase
    Protein Accession:
    Q07075
    Secondary Accessions:
    • Q504U2

    Protein attributes for ENPEP Gene

    Size:
    957 amino acids
    Molecular mass:
    109244 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for ENPEP Gene

neXtProt entry for ENPEP Gene

Selected DME Specific Peptides for ENPEP Gene

Q07075:
  • NAKTSDFW
  • EITSVFDGISYSKG
  • PVKEVMDTWT
  • TAEYAANIT
  • GFYRVNY
  • GAMENWG
  • QVKPIADSLGW
  • KPREQVLETVKNNIEWL
  • TYRETNLLYDP
  • KSVPMSTYLVCFAVH
  • IDDAFALARAQLL
  • PVNLRLLVYRYGMQNSGNE
  • YIISMFEDD
  • ARKSFPCFDEP
  • LPKLDKIAIPDFGTGAMENWGL
  • GWLNGSLVGFY
  • WLNEGFA

Post-translational modifications for ENPEP Gene

  • Glycosylation at posLast=124124, isoforms=197, isoforms=324, posLast=340340, isoforms=554, posLast=589589, posLast=597597, isoforms=607, posLast=678678, posLast=763763, posLast=773773, posLast=801801, and posLast=828828
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPEP Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

Domains & Families for ENPEP Gene

Gene Families for ENPEP Gene

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

Graphical View of Domain Structure for InterPro Entry

Q07075

UniProtKB/Swiss-Prot:

AMPE_HUMAN :
  • Belongs to the peptidase M1 family.
Family:
  • Belongs to the peptidase M1 family.
genes like me logo Genes that share domains with ENPEP: view

Function for ENPEP Gene

Molecular function for ENPEP Gene

GENATLAS Biochemistry:
glutamyl aminopeptidase,homolog of murine B-lymphocyte differentiation antigen BP-1/6C3
UniProtKB/Swiss-Prot CatalyticActivity:
Release of N-terminal glutamate (and to a lesser extent aspartate) from a peptide.
UniProtKB/Swiss-Prot Function:
Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells.

Enzyme Numbers (IUBMB) for ENPEP Gene

Phenotypes From GWAS Catalog for ENPEP Gene

Gene Ontology (GO) - Molecular Function for ENPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IDA,IEA 8244382
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity EXP,IEA 16790432
GO:0008270 zinc ion binding IBA,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ENPEP: view

Phenotypes for ENPEP Gene

genes like me logo Genes that share phenotypes with ENPEP: view

Animal Models for ENPEP Gene

MGI Knock Outs for ENPEP:

Animal Model Products

CRISPR Products

miRNA for ENPEP Gene

miRTarBase miRNAs that target ENPEP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENPEP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for ENPEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPEP Gene

Membrane; Single-pass type II membrane protein.

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 ENPEP gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ENPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8244382
GO:0005903 brush border ISS,IEA --
GO:0009897 external side of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with ENPEP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENPEP Gene

Pathways & Interactions for ENPEP Gene

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

Pathways by source for ENPEP Gene

Gene Ontology (GO) - Biological Process for ENPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis ISS --
GO:0002003 angiotensin maturation IEA,TAS --
GO:0002005 angiotensin catabolic process in blood NAS 19608358
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin NAS 8346219
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ENPEP: view

No data available for SIGNOR curated interactions for ENPEP Gene

Drugs & Compounds for ENPEP Gene

(10) Drugs for ENPEP Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
Zinc Approved Pharma 2359
bestatin Pharma Inhibition, Inhibitor Aminopeptidase inhibitor 0
calcium Nutra 0
Angiotensin III (human, mouse) Pharma Aldosterone stimulator 0

(7) Additional Compounds for ENPEP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for ENPEP Gene

Compound Action Cas Number
Angiotensin III (human, mouse) Aldosterone stimulator 13602-53-4
Bestatin Aminopeptidase inhibitor 58970-76-6
Tosedostat (CHR2797) Aminopeptidase inhibitor 238750-77-1
genes like me logo Genes that share compounds with ENPEP: view

Drug Products

Transcripts for ENPEP Gene

Unigene Clusters for ENPEP Gene

Glutamyl aminopeptidase (aminopeptidase A):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENPEP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ENPEP Gene

GeneLoc Exon Structure for
ENPEP
ECgene alternative splicing isoforms for
ENPEP

Expression for ENPEP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Small Intestine - Terminal Ileum (x10.5), Kidney - Cortex (x10.2), and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for ENPEP Gene

This gene is overexpressed in Pancreatic juice (24.4) and Urine (11.1).

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



Protein tissue co-expression partners for ENPEP Gene

NURSA nuclear receptor signaling pathways regulating expression of ENPEP Gene:

ENPEP

SOURCE GeneReport for Unigene cluster for ENPEP Gene:

Hs.435765

mRNA Expression by UniProt/SwissProt for ENPEP Gene:

Q07075-AMPE_HUMAN
Tissue specificity: Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues.

Evidence on tissue expression from TISSUES for ENPEP Gene

  • Kidney(4.8)
  • Liver(4.4)
  • Bone marrow(4.1)
  • Spleen(2.4)
  • Nervous system(2.4)
  • Blood(2.3)
  • Heart(2.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with ENPEP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPEP Gene

Orthologs for ENPEP Gene

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

Orthologs for ENPEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPEP 33 34
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia ENPEP 33 34
  • 86.86 (n)
dog
(Canis familiaris)
Mammalia ENPEP 33 34
  • 85.99 (n)
rat
(Rattus norvegicus)
Mammalia Enpep 33
  • 80.54 (n)
mouse
(Mus musculus)
Mammalia Enpep 33 16 34
  • 80.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ENPEP 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENPEP 33 34
  • 69.7 (n)
lizard
(Anolis carolinensis)
Reptilia ENPEP 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpep 33
  • 64.88 (n)
zebrafish
(Danio rerio)
Actinopterygii enpep 33 34
  • 62.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32473 33 34
  • 49.56 (n)
CG8773 35 34
  • 37 (a)
CG11951 35
  • 35 (a)
CG8774 35 34
  • 33 (a)
CG14516 35
  • 31 (a)
sda 35
  • 30 (a)
BG:DS00365.1 35
  • 28 (a)
CG5849 35
  • 28 (a)
CG2111 35
  • 26 (a)
CG6071 35
  • 25 (a)
CG4467 35
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003077 33
  • 48.16 (n)
worm
(Caenorhabditis elegans)
Secernentea Y67D8C.9 35 34
  • 32 (a)
T07F10.1 35
  • 29 (a)
R03G8.6 35
  • 28 (a)
T16G12.1 35 34
  • 28 (a)
Y42A5A.1 35 34
  • 28 (a)
R03G8.4 35 34
  • 26 (a)
AC3.5 35 34
  • 23 (a)
T12E12.6 34
  • 22 (a)
ManyToMany
Y53F4B.20 34
  • 16 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAP1 34
  • 31 (a)
ManyToMany
APE2 34
  • 29 (a)
ManyToMany
Species where no ortholog for ENPEP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for ENPEP Gene

ENSEMBL:
Gene Tree for ENPEP (if available)
TreeFam:
Gene Tree for ENPEP (if available)

Paralogs for ENPEP Gene

Paralogs for ENPEP Gene

Pseudogenes.org Pseudogenes for ENPEP Gene

genes like me logo Genes that share paralogs with ENPEP: view

Variants for ENPEP Gene

Sequence variations from dbSNP and Humsavar for ENPEP Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_036047 A breast cancer sample
rs1000018112 -- 110,490,534(+) CCTCC(C/T)CTCTG intron-variant, upstream-variant-2KB
rs1000097566 -- 110,541,956(+) ATAAG(-/TC)TCTGC intron-variant
rs1000132674 -- 110,492,319(+) TCCTT(C/T)CAGAT intron-variant
rs1000179090 -- 110,516,444(+) TCTTC(C/T)TACTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv507187 OTHER sequence alteration 20534489
nsv518506 CNV loss 19592680
nsv830036 CNV gain 17160897
nsv950376 CNV duplication 24416366
nsv964082 CNV duplication 23825009

Variation tolerance for ENPEP Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENPEP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPEP

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

Disorders for ENPEP Gene

MalaCards: The human disease database

(8) MalaCards diseases for ENPEP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neurogenic hypertension
gestational choriocarcinoma
  • gestational chorionepithelioma
atrial septal defect 4
  • atrial heart septal defect 4
atrial septal defect 3
  • atrial heart septal defect 3
long qt syndrome
  • long q-t syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ENPEP in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENPEP

Genetic Association Database (GAD)
ENPEP
Human Genome Epidemiology (HuGE) Navigator
ENPEP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENPEP
genes like me logo Genes that share disorders with ENPEP: view

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

Publications for ENPEP Gene

  1. Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS). (PMID: 18206321) Tonna S … Pollak MR (Gene 2008) 3 22 45 60
  2. High-resolution genetic map of the human glutamyl aminopeptidase gene (ENPEP). (PMID: 9268642) Li L … Cooper MD (Genomics 1997) 2 3 22 60
  3. Molecular cloning of the human kidney differentiation antigen gp160: human aminopeptidase A. (PMID: 8346219) Nanus DM … Albino AP (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 60
  4. cDNA cloning and expression of human glutamyl aminopeptidase (aminopeptidase A). (PMID: 8244382) Li L … Cooper MD (Genomics 1993) 3 4 22 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for ENPEP Gene

Sources for ENPEP Gene

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