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
  • Aminopeptidase O 2 3
  • AOPEP 3 4
  • ONPEP 3 4
  • AP-O 3 4
  • EC 3.4.11.- 4
  • C9orf101 6
  • C9orf39 6
  • C90RF3 3
  • CNTLN 6
  • APO 3

External Ids for C9orf3 Gene

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 newborn respiratory distress syndrome and right bundle branch block. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is LTA4H.

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.

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

Genomics for C9orf3 Gene

Genomic Location for C9orf3 Gene

Start:
94,726,604 bp from pter
End:
95,087,218 bp from pter
Size:
360,615 bases
Orientation:
Plus strand

Genomic View for C9orf3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9orf3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf3 Gene

Regulatory Elements 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; Note=Binds 1 zinc ion per subunit.;
    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

Proteomics data for C9orf3 Gene at MOPED

Post-translational modifications for C9orf3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C9orf3 Gene

Domains for C9orf3 Gene

Gene Families for C9orf3 Gene

UniProtKB/Swiss-Prot:

AMPO_HUMAN
Family:
  • Belongs to the peptidase M1 family.:
    • Q8N6M6
genes like me logo Genes that share domains with C9orf3: view

Function for C9orf3 Gene

Molecular function for C9orf3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=6 uM for Arg-AMC {ECO:0000269 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.
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.

Enzyme Numbers (IUBMB) for C9orf3 Gene

Gene Ontology (GO) - Molecular Function for C9orf3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IDA 15687497
GO:0005488 binding --
GO:0008237 metallopeptidase activity IDA 15687497
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with C9orf3: view

Phenotypes for C9orf3 Gene

MGI mutant phenotypes for C9orf3:
inferred from 1 alleles
GenomeRNAi human phenotypes for C9orf3:
genes like me logo Genes that share phenotypes with C9orf3: view

miRNA for C9orf3 Gene

miRTarBase miRNAs that target C9orf3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for C9orf3 Gene

Localization for C9orf3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf3 Gene COMPARTMENTS Subcellular localization image for C9orf3 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for C9orf3 Gene

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

Pathways for C9orf3 Gene

SuperPathways for C9orf3 Gene

No Data Available

Interacting Proteins for C9orf3 Gene

Gene Ontology (GO) - Biological Process for C9orf3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 15687497
GO:0019370 leukotriene biosynthetic process IEA --
genes like me logo Genes that share ontologies with C9orf3: view

No data available for Pathways by source for C9orf3 Gene

Compounds for C9orf3 Gene

(1) Novoseek inferred chemical compound relationships for C9orf3 Gene

Compound -log(P) Hits PubMed IDs
calcium 0.78 1
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:

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 for C9orf3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C9orf3 Gene

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.
genes like me logo Genes that share expressions with C9orf3: view

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 36
  • 99.23 (n)
  • 98.78 (a)
C9orf3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf3 36
  • 89.57 (n)
  • 86.95 (a)
C9orf3 37
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H9orf3 36
  • 88.82 (n)
  • 85.23 (a)
C9orf3 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2010111I01Rik 36
  • 82.27 (n)
  • 76.89 (a)
2010111I01Rik 16
2010111I01Rik 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf3 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 28 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Npepo 36
  • 82.06 (n)
  • 77.52 (a)
chicken
(Gallus gallus)
Aves C9orf3 37
  • 71 (a)
OneToOne
CZH9ORF3 36
  • 72.95 (n)
  • 71.73 (a)
lizard
(Anolis carolinensis)
Reptilia C9orf3 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68599 36
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf3 36
  • 67.31 (n)
  • 55.81 (a)
Str.19490 36
zebrafish
(Danio rerio)
Actinopterygii C8H9orf3 37
  • 56 (a)
OneToOne
zgc:162939 36
  • 59.31 (n)
  • 57.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 37
  • 20 (a)
OneToMany
Species with no ortholog for C9orf3:
  • 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

Selected SIMAP similar genes for C9orf3 Gene using alignment to 6 proteins:

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 Sequence Context AA Info Type MAF
rs60120 -- 94,762,821(+) ATGTT(A/C)AGGAC intron-variant
rs181488 -- 94,779,139(+) GCTCT(A/G)GTGTC intron-variant
rs183066 -- 94,755,150(-) AACCA(A/G)TGGTT intron-variant
rs187163 -- 94,790,766(+) TTTTA(C/G)TGGTA intron-variant
rs187164 -- 94,777,649(+) ttttt(G/T)ttgag intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893596 CNV Gain 21882294
esv8177 CNV Gain 19470904
esv271677 CNV Insertion 20981092
esv274590 CNV Insertion 20981092
esv8735 CNV Gain 19470904
nsv831656 CNV Loss 17160897

Relevant External Links for C9orf3 Gene

HapMap Linkage Disequilibrium report
C9orf3

Disorders for C9orf3 Gene

(2) University of Copenhagen DISEASES for C9orf3 Gene

Relevant External Links for C9orf3

Genetic Association Database (GAD)
C9orf3
Human Genome Epidemiology (HuGE) Navigator
C9orf3
genes like me logo Genes that share disorders with C9orf3: view

No data available for UniProtKB/Swiss-Prot 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) Diaz-Perales A. … Lopez-Otin C. (J. Biol. Chem. 2005) 2 3 4 23
  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 S.L. … Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010) 3 49
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for C9orf3 Gene

Sources for C9orf3 Gene

Back to Top

Content