Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C9orf3 Gene

Aliases for C9orf3 Gene

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

External Ids for C9orf3 Gene

Previous GeneCards Identifiers for C9orf3 Gene

  • GC09U990106
  • GC09P092831
  • GC09P094568
  • GC09P096528
  • GC09P097488

Summaries for C9orf3 Gene

Entrez Gene Summary for C9orf3 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 C9orf3 Gene

C9orf3 (Chromosome 9 Open Reading Frame 3) is a Protein Coding gene. Diseases associated with C9orf3 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. Gene Ontology (GO) annotations related to this gene include binding and aminopeptidase activity. An important paralog of this gene is RNPEP.

UniProtKB/Swiss-Prot for C9orf3 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 C9orf3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf3 Gene

Genomics for C9orf3 Gene

GeneHancer (GH) Regulatory Elements for C9orf3 Gene

Promoters and enhancers for C9orf3 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 2.1 EPDnew Ensembl ENCODE 650.7 +0.2 238 1.6 HDGF CLOCK SMAD1 ARID4B SIN3A YY1 POLR2B ZNF766 E2F8 ZNF207 C9orf3 LOC100132077 FBP1 MIR2278
GH09J094752 Promoter 0.5 EPDnew 662.5 +26.3 26291 0.1 C9orf3 MIR2278
GH09J094911 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +194.2 194198 19.6 PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 ZNF143 ZNF548 ERCC6L2 MIR2278 ENSG00000271155 LOC100132077 FBP1 ZNF169 FANCC C9orf3 LOC101928119 ENSG00000236095
GH09J094949 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +225.2 225206 5 PKNOX1 FOXA2 YY1 DEK RXRA SP5 MIER2 PPARG KAT8 NFIL3 ZNF169 FBP1 C9orf3 LOC101928119 MIR6081
GH09J095002 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 4.1 +280.1 280066 8.8 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SP3 MXD4 REST FANCC C9orf3 MIR6081 LOC101928119
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf3 gene promoter:
  • HNF-4alpha2
  • HNF-4alpha1
  • Ik-1
  • POU2F1
  • POU2F1a
  • HFH-1
  • Pax-3
  • Zic3
  • PPAR-gamma1

Genomic Locations for C9orf3 Gene

Genomic Locations for C9orf3 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 C9orf3 Gene

Genes around C9orf3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf3 Gene

Proteins for C9orf3 Gene

  • Protein details for C9orf3 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 C9orf3 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; Evidence={ECO:0000305}; Sequence=BAB55210.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C9orf3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf3 Gene

Post-translational modifications for C9orf3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C9orf3 Gene

Domains & Families for C9orf3 Gene

Gene Families for C9orf3 Gene

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

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 C9orf3: view

Function for C9orf3 Gene

Molecular function for C9orf3 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:0000269 PubMed:15687497};

Enzyme Numbers (IUBMB) for C9orf3 Gene

Phenotypes From GWAS Catalog for C9orf3 Gene

Gene Ontology (GO) - Molecular Function for C9orf3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity TAS --
GO:0004301 epoxide hydrolase activity IBA --
GO:0005488 binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IDA 15687497
genes like me logo Genes that share ontologies with C9orf3: view
genes like me logo Genes that share phenotypes with C9orf3: view

Animal Model Products

CRISPR Products

miRNA for C9orf3 Gene

miRTarBase miRNAs that target C9orf3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C9orf3

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf3 Gene

Localization for C9orf3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf3 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 C9orf3 gene
Compartment Confidence
cytosol 5
nucleus 4

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for C9orf3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with C9orf3: view

Pathways & Interactions for C9orf3 Gene

genes like me logo Genes that share pathways with C9orf3: view

Pathways by source for C9orf3 Gene

Gene Ontology (GO) - Biological Process for C9orf3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IDA 15687497
GO:0043171 peptide catabolic process IBA --
GO:0044255 cellular lipid metabolic process IBA --
genes like me logo Genes that share ontologies with C9orf3: view

No data available for SIGNOR curated interactions for C9orf3 Gene

Drugs & Compounds for C9orf3 Gene

(2) Drugs for C9orf3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
angiotensin III Pharma Full agonist, Agonist 0
genes like me logo Genes that share compounds with C9orf3: view

Transcripts for C9orf3 Gene

Unigene Clusters for C9orf3 Gene

Chromosome 9 open reading frame 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C9orf3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - -
SP6: - - -
SP7:
SP8: - - - - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - - -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: - - - - - -
SP27:
SP28:

ExUns: 21a · 21b · 21c · 21d · 21e ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e · 27f ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ·
SP1: - - - - - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - - - - -
SP8:
SP9: - - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - -
SP14: - - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - -
SP18:
SP19:
SP20: - - - - - - - - - - - - - -
SP21: - - - - - -
SP22: - - -
SP23: - - -
SP24: - - - - -
SP25: - -
SP26:
SP27:
SP28:

ExUns: 32c ^ 33 ^ 34a · 34b · 34c · 34d ^ 35 ^ 36a · 36b · 36c · 36d · 36e
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10: - -
SP11: -
SP12: - - - - - - -
SP13: - -
SP14: - - - -
SP15: - - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: - -
SP24:
SP25: - -
SP26:
SP27:
SP28:

Relevant External Links for C9orf3 Gene

GeneLoc Exon Structure for
C9orf3
ECgene alternative splicing isoforms for
C9orf3

Expression for C9orf3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C9orf3 Gene

This gene is overexpressed in Liver, secretome (52.8) and NK cells (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf3 Gene



NURSA nuclear receptor signaling pathways regulating expression of C9orf3 Gene:

C9orf3

SOURCE GeneReport for Unigene cluster for C9orf3 Gene:

Hs.434253

mRNA Expression by UniProt/SwissProt for C9orf3 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 C9orf3 Gene

  • Muscle(4.4)
  • Lung(4.3)
  • Nervous system(4.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with C9orf3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf3 Gene

Orthologs for C9orf3 Gene

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

Orthologs for C9orf3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf3 33
  • 99.23 (n)
C9orf3 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf3 33
  • 89.57 (n)
C9orf3 34
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H9orf3 33
  • 88.82 (n)
C9orf3 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2010111I01Rik 16 34 33
  • 82.27 (n)
rat
(Rattus norvegicus)
Mammalia Npepo 33
  • 82.06 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf3 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 28 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CZH9ORF3 33
  • 72.95 (n)
C9orf3 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf3 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf3 33
  • 67.31 (n)
Str.19490 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68599 33
zebrafish
(Danio rerio)
Actinopterygii zgc:162939 33
  • 59.31 (n)
C8H9orf3 34
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 34
  • 20 (a)
OneToMany
Species where no ortholog for C9orf3 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)

Evolution for C9orf3 Gene

ENSEMBL:
Gene Tree for C9orf3 (if available)
TreeFam:
Gene Tree for C9orf3 (if available)

Paralogs for C9orf3 Gene

Paralogs for C9orf3 Gene

(1) SIMAP similar genes for C9orf3 Gene using alignment to 6 proteins:

  • B4DKT1_HUMAN
  • B4DQU3_HUMAN
  • B4DU39_HUMAN
  • H0Y7A8_HUMAN
  • H0Y7M4_HUMAN
  • H0YCM2_HUMAN
genes like me logo Genes that share paralogs with C9orf3: view

Variants for C9orf3 Gene

Sequence variations from dbSNP and Humsavar for C9orf3 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
rs1038927110 uncertain-significance, Fanconi anemia 95,100,823(+) G/A genic_downstream_transcript_variant, intron_variant
rs1046795121 uncertain-significance, Fanconi anemia 95,101,458(+) G/A genic_downstream_transcript_variant, intron_variant
rs104886457 conflicting-interpretations-of-pathogenicity, pathogenic, Fanconi anemia, complementation group C, not provided, Fanconi anemia, Tracheoesophageal fistula, Hereditary cancer-predisposing syndrome 95,101,742(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf3 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 C9orf3 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 C9orf3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf3 Gene

Disorders for C9orf3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C9orf3 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C9orf3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C9orf3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C9orf3 Gene

Publications for C9orf3 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 3 4 22 58
  2. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. (PMID: 20932654) Kerns SL … Rosenstein BS (International journal of radiation oncology, biology, physics 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. 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 58

Products for C9orf3 Gene

Sources for C9orf3 Gene

Content
Loading form....