This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] See more...

Aliases for AOPEP Gene

Aliases for AOPEP Gene

  • Aminopeptidase O (Putative) 2 3 5
  • AP-O 2 3 4
  • Aminopeptidase O 3 4
  • C90RF3 2 3
  • C9orf3 3 4
  • ONPEP 3 4
  • APO 2 3
  • Chromosome 9 Open Reading Frame 3 2
  • EC 3.4.11.- 4
  • FLJ14675 2
  • AOPEP 5

External Ids for AOPEP Gene

Previous HGNC Symbols for AOPEP Gene

  • C9orf3

Summaries for AOPEP Gene

Entrez Gene Summary for AOPEP Gene

  • This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

GeneCards Summary for AOPEP Gene

AOPEP (Aminopeptidase O (Putative)) is a Protein Coding gene. Diseases associated with AOPEP include Fanconi Anemia, Complementation Group C and Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Peptide hormone metabolism and Hepatitis C and Hepatocellular Carcinoma. An important paralog of this gene is RNPEP.

UniProtKB/Swiss-Prot Summary for AOPEP Gene

  • Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.

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

Genomics for AOPEP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AOPEP 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
GH09J094726 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 291 2.1 SP1 CREB1 GATAD2A ATF7 TEAD4 ZNF629 TFE3 RFX1 ZNF692 POLR2A AOPEP ENSG00000288023 FBP1 RF00017-7730 FANCC
GH09J094724 Enhancer 0.5 Ensembl 600.7 -2.0 -1968 1 RCOR2 FOXA2 FOSL2 NFIL3 ATF3 KDM1A FOS TEAD3 IKZF1 AOPEP ENSG00000288023 FBP1 RF00017-7729
GH09J094752 Promoter 0.3 EPDnew 612.6 +26.2 26226 0.1 AOPEP MIR2278 RF00017-7730 FANCC
GH09J094911 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 +194.1 194133 19.6 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 RFX1 NFKBIZ RCOR2 TARDBP ZHX2 piR-50443-382 ERCC6L2 MIR2278 ENSG00000271155 ENSG00000232063 FBP1 ZNF169 FANCC AOPEP lnc-FANCC-74
GH09J094948 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 +224.3 224332 6.8 GATAD2A TFE3 RCOR2 ZIC2 POLR2A RXRB IRF2 SP1 PBX2 CEBPA ZNF169 FBP1 AOPEP LOC101928119 ENSG00000285807 FANCC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for AOPEP Gene

Genomic Locations for AOPEP Gene
chr9:94,726,669-95,148,264
(GRCh38/hg38)
Size:
421,596 bases
Orientation:
Plus strand
chr9:97,488,951-97,849,500
(GRCh37/hg19)
Size:
360,550 bases
Orientation:
Plus strand

Genomic View for AOPEP Gene

Genes around AOPEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AOPEP Gene

Proteins for AOPEP Gene

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

    Protein Symbol:
    Q8N6M6-AMPO_HUMAN
    Recommended name:
    Aminopeptidase O
    Protein Accession:
    Q8N6M6
    Secondary Accessions:
    • Q5T9B1
    • Q5T9B3
    • Q5T9B4
    • Q8WUL6
    • Q96M23
    • Q96SS1

    Protein attributes for AOPEP Gene

    Size:
    819 amino acids
    Molecular mass:
    93572 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH20194.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55210.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AOPEP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AOPEP Gene

Post-translational modifications for AOPEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AOPEP Gene

Domains & Families for AOPEP Gene

Gene Families for AOPEP Gene

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

Protein Domains for AOPEP Gene

InterPro:
Blocks:
  • Membrane alanyl dipeptidase (M1) family signature
ProtoNet:

Suggested Antigen Peptide Sequences for AOPEP Gene

GenScript: Design optimal peptide antigens:
  • Aminopeptidase O (AMPO_HUMAN)
  • cDNA FLJ55832, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DKT1_HUMAN)
  • cDNA FLJ52730, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DQU3_HUMAN)
  • cDNA FLJ52757, highly similar to Aminopeptidase O (EC 3.4.11.-) (B4DU39_HUMAN)
  • Chromosome 9 open reading frame 3 (Q5JTU2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N6M6

UniProtKB/Swiss-Prot:

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

Function for AOPEP Gene

Molecular function for AOPEP Gene

UniProtKB/Swiss-Prot Function:
Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6 uM for Arg-AMC {ECO:0000305|PubMed:15687497};
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by ophenanthroline, a metalloprotease inhibitor. Inhibited by arphamenine A, a potent inhibitor of aminopeptidases. Not affected by AEBSF and E-64, which are common inhibitors of serine- and cysteine-proteases, respectively.

Enzyme Numbers (IUBMB) for AOPEP Gene

Phenotypes From GWAS Catalog for AOPEP Gene

Gene Ontology (GO) - Molecular Function for AOPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with AOPEP: view
genes like me logo Genes that share phenotypes with AOPEP: view

Animal Models for AOPEP Gene

MGI Knock Outs for AOPEP:
  • Aopep Aopep<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for AOPEP Gene

miRTarBase miRNAs that target AOPEP

Inhibitory RNA Products

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

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

Localization for AOPEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AOPEP Gene

Nucleus, nucleolus.
[Isoform 3]: 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 AOPEP gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AOPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IBA,ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AOPEP: view

Pathways & Interactions for AOPEP Gene

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

Pathways by source for AOPEP Gene

Gene Ontology (GO) - Biological Process for AOPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with AOPEP: view

No data available for SIGNOR curated interactions for AOPEP Gene

Drugs & Compounds for AOPEP Gene

(2) Drugs for AOPEP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
angiotensin III Pharma Agonist, Full agonist 0
genes like me logo Genes that share compounds with AOPEP: view

Transcripts for AOPEP Gene

mRNA/cDNA for AOPEP Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for AOPEP Gene

GeneLoc Exon Structure for
AOPEP

Expression for AOPEP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

SOURCE GeneReport for Unigene cluster for AOPEP Gene:

Hs.434253

mRNA Expression by UniProt/SwissProt for AOPEP Gene:

Q8N6M6-AMPO_HUMAN
Tissue specificity: Predominantly expressed in pancreas, placenta, liver, testis and heart. Expressed at lower level in brain, lung and kidney.

Evidence on tissue expression from TISSUES for AOPEP Gene

  • Muscle(4.5)
  • Nervous system(4.4)
  • Lung(4.4)
  • Heart(2.8)
  • Skin(2.5)
  • Liver(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with AOPEP: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AOPEP Gene

Orthologs for AOPEP Gene

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

Orthologs for AOPEP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C9H9orf3 30
  • 99.23 (n)
C9orf3 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C8H9orf3 30
  • 89.57 (n)
C9orf3 31
  • 67 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1H9orf3 30
  • 88.82 (n)
C9orf3 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 2010111I01Rik 30 31
  • 82.27 (n)
OneToOne
Aopep 17
Rat
(Rattus norvegicus)
Mammalia Npepo 30
  • 82.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia C9orf3 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 28 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves CZH9ORF3 30
  • 72.95 (n)
C9orf3 31
  • 71 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C9orf3 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c9orf3 30
  • 67.31 (n)
Str.19490 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68599 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:162939 30
  • 59.31 (n)
C8H9orf3 31
  • 56 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 31
  • 20 (a)
OneToMany
Species where no ortholog for AOPEP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for AOPEP Gene

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

Paralogs for AOPEP Gene

Paralogs for AOPEP Gene

(1) SIMAP similar genes for AOPEP Gene using alignment to 1 proteins:

  • AMPO_HUMAN
genes like me logo Genes that share paralogs with AOPEP: view

Variants for AOPEP Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
641917 Uncertain Significance: Hereditary cancer-predisposing syndrome; Fanconi anemia 95,107,211(+) G/A MISSENSE_VARIANT
643933 Uncertain Significance: Fanconi anemia 95,117,381(+) C/A MISSENSE_VARIANT
644730 Uncertain Significance: Fanconi anemia 95,125,185(+) C/A MISSENSE_VARIANT
648819 Uncertain Significance: Fanconi anemia 95,135,351(+) A/G MISSENSE_VARIANT
649717 Pathogenic: Fanconi anemia; Fanconi anemia, complementation group A 95,111,534(+) TG/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for AOPEP Gene

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

Variant ID Type Subtype PubMed ID
dgv2168e212 CNV loss 25503493
esv2764145 CNV loss 21179565
esv3307403 CNV mobile element insertion 20981092
esv3310318 CNV mobile element insertion 20981092
esv3328162 CNV insertion 20981092
esv3358674 CNV insertion 20981092
esv3368410 CNV insertion 20981092
esv3621113 CNV gain 21293372
esv3621137 CNV loss 21293372
esv3621138 CNV loss 21293372
esv3621139 CNV gain 21293372
esv3621140 CNV loss 21293372
esv3621141 CNV loss 21293372
esv3621144 CNV loss 21293372
esv8177 CNV gain 19470904
esv8735 CNV gain 19470904
nsv1038106 CNV gain 25217958
nsv1041922 CNV gain 25217958
nsv1045849 CNV loss 25217958
nsv1075255 CNV deletion 25765185
nsv1144283 CNV deletion 24896259
nsv1147999 OTHER inversion 26484159
nsv473369 CNV novel sequence insertion 20440878
nsv479050 CNV novel sequence insertion 20440878
nsv831656 CNV loss 17160897

Variation tolerance for AOPEP Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AOPEP Gene

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

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

Disorders for AOPEP Gene

MalaCards: The human disease database

(3) MalaCards diseases for AOPEP Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AOPEP in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AOPEP: view

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

Publications for AOPEP Gene

  1. Identification of human aminopeptidase O, a novel metalloprotease with structural similarity to aminopeptidase B and leukotriene A4 hydrolase. (PMID: 15687497) Díaz-Perales A … López-Otín C (The Journal of biological chemistry 2005) 2 4 23
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for AOPEP Gene

  • Signalway ELISA kits for AOPEP
  • Signalway Proteins for AOPEP

Sources for AOPEP Gene