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Aliases for C9orf142 Gene

Aliases for C9orf142 Gene

  • Chromosome 9 Open Reading Frame 142 2 3
  • Paralog Of XRCC4 And XLF 2 3 4
  • PAXX 3 4
  • Protein PAXX 3

External Ids for C9orf142 Gene

Previous GeneCards Identifiers for C9orf142 Gene

  • GC09P137163
  • GC09P139006
  • GC09P139886
  • GC09P109345

Summaries for C9orf142 Gene

GeneCards Summary for C9orf142 Gene

C9orf142 (Chromosome 9 Open Reading Frame 142) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C9orf142 Gene

  • Involved in DNA non-homologous end joining (NHEJ). May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at DNA ends and thus promote assembly and/or stability of the NHEJ machinery at double-strand break (DSB) sites.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf142 Gene

Genomics for C9orf142 Gene

Regulatory Elements for C9orf142 Gene

Genomic Location for C9orf142 Gene

Start:
136,992,418 bp from pter
End:
136,993,984 bp from pter
Size:
1,567 bases
Orientation:
Plus strand

Genomic View for C9orf142 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9orf142 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf142 Gene

Proteins for C9orf142 Gene

  • Protein details for C9orf142 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUH6-PAXX_HUMAN
    Recommended name:
    Protein PAXX
    Protein Accession:
    Q9BUH6
    Secondary Accessions:
    • Q8IY19

    Protein attributes for C9orf142 Gene

    Size:
    204 amino acids
    Molecular mass:
    21640 Da
    Quaternary structure:
    • Homodimer. Interacts (via C-terminus) with XRCC5/Ku80 and XRCC6/Ku70.

    Three dimensional structures from OCA and Proteopedia for C9orf142 Gene

    Alternative splice isoforms for C9orf142 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf142 Gene

Proteomics data for C9orf142 Gene at MOPED

Post-translational modifications for C9orf142 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf142 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf142 Gene

Domains for C9orf142 Gene

Protein Domains for C9orf142 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BUH6

UniProtKB/Swiss-Prot:

PAXX_HUMAN :
  • Q9BUH6
Domain:
  • The N-terminus (residues 1-113) forms a head domain that is structurally related to those of XRCC4, XLF/NHEJ1, and SASS6.
  • Contains 1 PISA domain.
genes like me logo Genes that share domains with C9orf142: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for C9orf142 Gene

Function for C9orf142 Gene

Molecular function for C9orf142 Gene

UniProtKB/Swiss-Prot Function: Involved in DNA non-homologous end joining (NHEJ). May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at DNA ends and thus promote assembly and/or stability of the NHEJ machinery at double-strand break (DSB) sites.

Gene Ontology (GO) - Molecular Function for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25574025
GO:0042803 protein homodimerization activity IDA 25574025
genes like me logo Genes that share ontologies with C9orf142: view

miRNA for C9orf142 Gene

miRTarBase miRNAs that target C9orf142

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for C9orf142 Gene

Localization for C9orf142 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf142 Gene

Nucleus. Note=Predominantly localizes to the nucleus. Accumulates at sites of DNA damage generated by laser microirradiation. {ECO:0000269 PubMed:25574025}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf142 Gene COMPARTMENTS Subcellular localization image for C9orf142 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 25574025
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C9orf142: view

Pathways for C9orf142 Gene

SuperPathways for C9orf142 Gene

No Data Available

Interacting Proteins for C9orf142 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360682%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000360682 for C9orf142 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for C9orf142 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006303 double-strand break repair via nonhomologous end joining IMP 25574025
GO:0006974 cellular response to DNA damage stimulus IDA 25574025
GO:0051103 DNA ligation involved in DNA repair IMP 25574025
genes like me logo Genes that share ontologies with C9orf142: view

No data available for Pathways by source for C9orf142 Gene

Transcripts for C9orf142 Gene

mRNA/cDNA for C9orf142 Gene

Unigene Clusters for C9orf142 Gene

Chromosome 9 open reading frame 142:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf142 Gene

No ASD Table

Relevant External Links for C9orf142 Gene

GeneLoc Exon Structure for
C9orf142
ECgene alternative splicing isoforms for
C9orf142

Expression for C9orf142 Gene

mRNA expression in normal human tissues for C9orf142 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C9orf142 Gene

SOURCE GeneReport for Unigene cluster for C9orf142 Gene Hs.409582

genes like me logo Genes that share expressions with C9orf142: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C9orf142 Gene

Orthologs for C9orf142 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf142 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf142 35
  • 99.39 (n)
  • 98.77 (a)
C9ORF142 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H9ORF142 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf142 35
  • 85.67 (n)
  • 80.5 (a)
C9orf142 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC029214 35
  • 79.33 (n)
  • 76.5 (a)
BC029214 16
BC029214 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf142 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf142 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1306215 35
  • 82.72 (n)
  • 79.63 (a)
lizard
(Anolis carolinensis)
Reptilia C9orf142 36
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C5H9orf142 36
  • 30 (a)
OneToOne
Species with no ortholog for C9orf142:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C9orf142 Gene

ENSEMBL:
Gene Tree for C9orf142 (if available)
TreeFam:
Gene Tree for C9orf142 (if available)

Paralogs for C9orf142 Gene

No data available for Paralogs for C9orf142 Gene

Variants for C9orf142 Gene

Sequence variations from dbSNP and Humsavar for C9orf142 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs14512 -- 136,993,900(-) GCAGG(C/T)GGAGG utr-variant-3-prime
rs2386134 -- 136,991,984(-) GCCCC(C/G)GCTCC upstream-variant-2KB
rs3833710 -- 136,992,846(-) CCCAG(-/A)GAGCC intron-variant
rs10781530 -- 136,991,496(+) AGGCA(A/C)GTAGG upstream-variant-2KB
rs10870156 -- 136,991,087(+) AAAGG(A/G)TGTGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf142 Gene

Variant ID Type Subtype PubMed ID
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv818738 CNV Gain 17921354
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
nsv894483 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894500 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894503 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8425n71 CNV Loss 21882294
dgv8427n71 CNV Gain 21882294
nsv894513 CNV Loss 21882294
nsv894514 CNV Loss 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
dgv8433n71 CNV Gain 21882294
nsv894546 CNV Loss 21882294
nsv894550 CNV Gain 21882294
dgv8437n71 CNV Gain 21882294

Relevant External Links for C9orf142 Gene

HapMap Linkage Disequilibrium report
C9orf142

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf142 Gene

Disorders for C9orf142 Gene

No disorders were found for C9orf142 Gene.

No data available for UniProtKB/Swiss-Prot for C9orf142 Gene

Publications for C9orf142 Gene

  1. DNA repair. PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair. (PMID: 25574025) Ochi T. … Jackson S.P. (Science 2015) 2 3 4
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4
  3. 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) 4
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 4

Products for C9orf142 Gene

Sources for C9orf142 Gene

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