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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
External Ids for AOPEP Gene
- HGNC: 1361
- Entrez Gene: 84909
- Ensembl: ENSG00000148120
- UniProtKB: Q8N6M6
Previous HGNC Symbols for AOPEP Gene
- C9orf3
Summaries 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 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 RNPEPL1.
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.
Additional gene information for AOPEP Gene
- Monarch Initiative
- Search for AOPEP at DataMed
- Search for AOPEP at HumanCyc
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 for AOPEP Gene
Promoters and enhancers for AOPEP 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 AOPEP on UCSC Golden Path with GeneCards custom track
Genomic Locations for AOPEP Gene
Genomic Locations for AOPEP Gene
- chr9:94,726,604-95,147,311
- (GRCh38/hg38)
- Size:
- 420,708 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:
-
- 9q22.32 by HGNC
- 9q22.32 by Entrez Gene
- 9q22.32 by Ensembl
AOPEP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55210.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Post-translational modifications for AOPEP Gene
Other Protein References for AOPEP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006717369.1
- XP_016870722.1
- NP_001180260.1
- XP_016870721.1
- XP_016870724.1
- XP_011517423.1
- XP_011517436.1
- XP_011517429.1
- NP_001180258.1
- XP_016870723.1
- XP_011517421.1
- XP_011517431.1
- XP_016870726.1
- XP_016870725.1
- NP_116212.3
- XP_016870718.1
- XP_011517424.1
- XP_011517434.1
- XP_005252341.1
- XP_016870720.1
- XP_011517422.1
- XP_011517432.1
- XP_011517425.1
- XP_016870719.1
Antibody Products
- Atlas Antibodies Anti-C9orf3 Antibody (HPA004633) and Anti-C9orf3 Antibody (HPA072729)
- Creative Diagnostics Anti-C9ORF3 (full length) polyclonal antibody
- Novus Biologicals Antibodies for AOPEP
-
Abcam antibodies for AOPEP
- Invitrogen Antibodies for AOPEP (AFLGC-AOPEP)
Protein Products
-
OriGene Purified Proteins for AOPEP
- Search Origene for MassSpec and Protein Over-expression Lysates for AOPEP
- Origene Custom Protein Services for AOPEP
- antibodies-online: Show 4 available C9orf3 Proteins ranked by validation data
- Compare Top C9orf3 Proteins
-
Quality Products:
-
Abcam proteins for AOPEP
Assay Products
- RayBiotech Custom Human Aminopeptidase O ELISA
- Aviva Systems Biology AOPEP ELISA Kit (Human) (OKEH02243)
- antibodies-online: Show 21 available C9orf3 Elisa Kits ranked by validation data
- Compare Top C9orf3 Elisa Kits
-
Quality Products:
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
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- Family:
-
- Belongs to the peptidase M1 family.
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 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.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=6 uM for Arg-AMC {ECO:0000305 PubMed:15687497};
Enzyme Numbers (IUBMB) for AOPEP Gene
Phenotypes From GWAS Catalog for AOPEP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004177 | aminopeptidase activity | IBA | 21873635 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IBA | 21873635 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for AOPEP Gene
- MGI mutant phenotypes for AOPEP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AOPEP:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
- genomics-online: gRNA clones - Search results for available C9orf3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Select products 50% OFF >
- * AOPEP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AOPEP CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA for AOPEP Gene
- miRTarBase miRNAs that target AOPEP
-
- hsa-mir-218-5p (MIRT441032)
- hsa-mir-6820-5p (MIRT490229)
- hsa-mir-6722-3p (MIRT490230)
- hsa-mir-1909-3p (MIRT490231)
- hsa-mir-6087 (MIRT490232)
- hsa-mir-761 (MIRT490233)
- hsa-mir-3619-5p (MIRT490234)
- hsa-mir-214-3p (MIRT490235)
- hsa-mir-6510-5p (MIRT490236)
- hsa-mir-6089 (MIRT499913)
- hsa-mir-6856-5p (MIRT499914)
- hsa-mir-6758-5p (MIRT499915)
- hsa-mir-518f-3p (MIRT499916)
- hsa-mir-518c-3p (MIRT499917)
- hsa-mir-518d-3p (MIRT499918)
- hsa-mir-518b (MIRT499919)
- hsa-mir-518a-3p (MIRT499920)
- hsa-mir-6849-3p (MIRT518218)
- hsa-mir-4293 (MIRT518220)
- hsa-mir-6771-3p (MIRT518221)
- hsa-mir-3180-5p (MIRT530897)
- hsa-mir-2355-5p (MIRT530898)
- hsa-mir-1236-3p (MIRT530899)
- hsa-mir-6893-3p (MIRT530900)
- hsa-mir-370-3p (MIRT530901)
- hsa-mir-4793-5p (MIRT530902)
- hsa-mir-510-5p (MIRT530903)
- hsa-mir-4786-5p (MIRT542241)
- hsa-mir-6848-3p (MIRT672317)
- hsa-mir-6843-3p (MIRT672318)
- hsa-mir-640 (MIRT672319)
- hsa-mir-378a-5p (MIRT672320)
- hsa-mir-1193 (MIRT672321)
- hsa-mir-6821-3p (MIRT672322)
- hsa-mir-6790-3p (MIRT672323)
- hsa-mir-1976 (MIRT672324)
- hsa-mir-3653-5p (MIRT672325)
- hsa-mir-7107-5p (MIRT672326)
- hsa-mir-1234-3p (MIRT672327)
- hsa-mir-1224-3p (MIRT672328)
- hsa-mir-2392 (MIRT672329)
- hsa-mir-1306-5p (MIRT762453)
- hsa-mir-1343-3p (MIRT762563)
- hsa-mir-23a-5p (MIRT764015)
- hsa-mir-23b-5p (MIRT764033)
- hsa-mir-4264 (MIRT768210)
- hsa-mir-4279 (MIRT768291)
- hsa-mir-4722-3p (MIRT771459)
- hsa-mir-4740-3p (MIRT771852)
- hsa-mir-498 (MIRT772817)
- hsa-mir-622 (MIRT776074)
- hsa-mir-660-3p (MIRT777385)
- hsa-mir-6727-3p (MIRT777861)
- hsa-mir-6742-3p (MIRT778126)
- hsa-mir-6747-3p (MIRT778250)
- hsa-mir-6783-3p (MIRT779067)
- hsa-mir-6852-5p (MIRT780453)
- hsa-mir-939-3p (MIRT782787)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
- genomics-online: shRNA clones - Search results for available C9orf3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
- genomics-online: cdna clones - Search results for available C9orf3 gene related products
- orf clones - Search results for available C9orf3 gene related products
- Applied Biological Materials (abm): Clones for AOPEP - Select products 50% OFF >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AOPEP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for AOPEP
No data available for Human Phenotype Ontology , Animal Models , 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.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 4 |
- Cell Junctions (2)
| 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 | -- |
Pathways & Interactions for AOPEP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide hormone metabolism | ||
| 2 | Metabolism of proteins | ||
| 3 | Hepatitis C and Hepatocellular Carcinoma | ||
Pathways by source for AOPEP Gene
1 BioSystems pathway for AOPEP Gene
3 Reactome pathways for AOPEP Gene
Interacting Proteins for AOPEP Gene
GPS-Prot Interaction Network for AOPEP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002003 | angiotensin maturation | TAS | -- |
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for AOPEP Gene
Drugs & Compounds for AOPEP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| angiotensin III | Pharma | Full agonist, Agonist | 0 |
Transcripts for AOPEP Gene
mRNA/cDNA for AOPEP Gene
- (4) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (314) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000277198 1966 bps (ENST00000277198.6)
- ENST00000297979 2820 bps (ENST00000297979.9)
- ENST00000427193 704 bps (ENST00000427193.1)
- ENST00000489318 682 bps (ENST00000489318.1)
- ENST00000424143 1605 bps (ENST00000424143.5)
CRISPR Products
-
OriGene CRISPR knockouts for AOPEP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
- genomics-online: gRNA clones - Search results for available C9orf3 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AOPEP - Select products 50% OFF >
- * AOPEP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AOPEP CRISPR applications: KO, Activation, Repression, and more - Browse All
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
- genomics-online: shRNA clones - Search results for available C9orf3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
- genomics-online: cdna clones - Search results for available C9orf3 gene related products
- orf clones - Search results for available C9orf3 gene related products
- Applied Biological Materials (abm): Clones for AOPEP - Select products 50% OFF >
- * AOPEP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AOPEP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for AOPEP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
NURSA nuclear receptor signaling pathways regulating expression of AOPEP Gene:
AOPEPSOURCE GeneReport for Unigene cluster for AOPEP Gene:
Hs.434253mRNA 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(4.4)
- Lung(4.3)
- Nervous system(4.3)
- Heart(2)
Primer Products
-
OriGene qPCR primer pairs for AOPEP
-
OriGene qPCR primer pairs and template standards for AOPEP
- genomics-online: primer clones - Search results for available C9orf3 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | C9H9orf3 32 |
|
||
| C9orf3 33 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | C8H9orf3 32 |
|
||
| C9orf3 33 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C1H9orf3 32 |
|
||
| C9orf3 33 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 2010111I01Rik 33 32 |
|
OneToOne | |
| Aopep 17 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Npepo 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | C9orf3 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | CZH9ORF3 32 |
|
||
| C9orf3 33 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | C9orf3 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | c9orf3 32 |
|
||
| Str.19490 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68599 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:162939 32 |
|
||
| C8H9orf3 33 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAP2 33 |
|
OneToMany |
- Species where no ortholog for AOPEP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
- worm (Caenorhabditis elegans)
Paralogs for AOPEP Gene
Variants for AOPEP Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1004604171 | uncertain-significance, Fanconi anemia | 95,101,191(+) | A/C | genic_downstream_transcript_variant, intron_variant | |
| rs1009336483 | uncertain-significance, Fanconi anemia | 95,100,348(+) | G/C | genic_downstream_transcript_variant, intron_variant | |
| rs1027358273 | likely-benign, not specified, Fanconi anemia | 95,101,773(+) | G/T | genic_downstream_transcript_variant, intron_variant | |
| rs1035139114 | pathogenic, Fanconi anemia, complementation group C | 95,107,206(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1038927110 | uncertain-significance, Fanconi anemia | 95,100,823(+) | G/A | genic_downstream_transcript_variant, intron_variant |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fructose-1,6-bisphosphatase deficiency |
|
|
Search AOPEP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AOPEP
No data available for UniProtKB/Swiss-Prot and Genatlas for AOPEP Gene
Publications for AOPEP Gene
- 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 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
- 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 56
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 56
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
ExternalLinks
Products for AOPEP Gene
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- Origene Custom Protein Services for AOPEP
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AOPEP
- Browse OriGene Inhibitory RNA Products For AOPEP
- OriGene qPCR primer pairs for AOPEP
- OriGene qPCR primer pairs and template standards for AOPEP
- OriGene CRISPR knockouts for AOPEP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AOPEP
- Sino Biological Human cDNA Clone for AOPEP
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for AOPEP
- Novus Biologicals proteins and lysates for AOPEP
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- Browse Primary Antibodies
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- Invitrogen Antibodies for AOPEP (AFLGC-AOPEP)
- antibodies-online: Show 11 available C9orf3 Antibodies ranked by validation data
- Compare Top C9orf3 Antibodies
- antibodies-online: Show 21 available C9orf3 Elisa Kits ranked by validation data
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- antibodies-online: Show 4 available C9orf3 Proteins ranked by validation data
- Compare Top C9orf3 Proteins
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- Horizon Cell Lines for AOPEP
- genomics-online: cdna clones - Search results for available C9orf3 gene related products
- orf clones - Search results for available C9orf3 gene related products
- genomics-online: gRNA clones - Search results for available C9orf3 gene related products
- genomics-online: primer clones - Search results for available C9orf3 gene related products
- genomics-online: shRNA clones - Search results for available C9orf3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AOPEP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AOPEP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for AOPEP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOPEP
Sources for AOPEP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource