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Aliases for C9orf114 Gene

Aliases for C9orf114 Gene

  • Chromosome 9 Open Reading Frame 114 2 3 5
  • Centromere Protein 32 2 3
  • CENP-32 3 4
  • EC 2.1.1.- 4
  • HSPC109 3

External Ids for C9orf114 Gene

Previous GeneCards Identifiers for C9orf114 Gene

  • GC09M126958
  • GC09M128661
  • GC09M130621
  • GC09M131581
  • GC09M101193

Summaries for C9orf114 Gene

GeneCards Summary for C9orf114 Gene

C9orf114 (Chromosome 9 Open Reading Frame 114) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity.

UniProtKB/Swiss-Prot for C9orf114 Gene

  • Required both for chromosome alignment and for association of the centrosomes with the poles of the bipolar spindle during metaphase.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf114 Gene

Genomics for C9orf114 Gene

Regulatory Elements for C9orf114 Gene

Promoters for C9orf114 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C9orf114 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf114 Gene

Chromosome:
9
Start:
128,819,651 bp from pter
End:
128,829,847 bp from pter
Size:
10,197 bases
Orientation:
Minus strand

Genomic View for C9orf114 Gene

Genes around C9orf114 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf114 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf114 Gene

Proteins for C9orf114 Gene

  • Protein details for C9orf114 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T280-CI114_HUMAN
    Recommended name:
    Putative methyltransferase C9orf114
    Protein Accession:
    Q5T280
    Secondary Accessions:
    • Q0D2P6
    • Q6P469
    • Q6PGP9
    • Q6PIJ1
    • Q6PJV9

    Protein attributes for C9orf114 Gene

    Size:
    376 amino acids
    Molecular mass:
    42009 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Depletion with RNAi causes a significant accumulation of cells in later prometaphase with misaligned chromosomes.

    Three dimensional structures from OCA and Proteopedia for C9orf114 Gene

neXtProt entry for C9orf114 Gene

Proteomics data for C9orf114 Gene at MOPED

Post-translational modifications for C9orf114 Gene

  • Ubiquitination at Lys 66
  • Modification sites at PhosphoSitePlus

Other Protein References for C9orf114 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf114 Gene

Domains & Families for C9orf114 Gene

Suggested Antigen Peptide Sequences for C9orf114 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T280

UniProtKB/Swiss-Prot:

CI114_HUMAN :
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily.
Family:
  • Belongs to the class IV-like SAM-binding methyltransferase superfamily.
genes like me logo Genes that share domains with C9orf114: view

No data available for Gene Families for C9orf114 Gene

Function for C9orf114 Gene

Molecular function for C9orf114 Gene

UniProtKB/Swiss-Prot Function:
Required both for chromosome alignment and for association of the centrosomes with the poles of the bipolar spindle during metaphase.

Enzyme Numbers (IUBMB) for C9orf114 Gene

genes like me logo Genes that share phenotypes with C9orf114: view

Animal Models for C9orf114 Gene

MGI Knock Outs for C9orf114:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C9orf114 Gene

Localization for C9orf114 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf114 Gene

Chromosome, centromere, kinetochore. Note=Associated with the outer kinetochore. {ECO:0000269 PubMed:20813266}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf114 Gene COMPARTMENTS Subcellular localization image for C9orf114 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for C9orf114 Gene

Pathways & Interactions for C9orf114 Gene

SuperPathways for C9orf114 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C9orf114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C9orf114: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf114 Gene

Drugs & Compounds for C9orf114 Gene

No Compound Related Data Available

Transcripts for C9orf114 Gene

Unigene Clusters for C9orf114 Gene

Chromosome 9 open reading frame 114:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf114 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9
SP1: - -
SP2: -
SP3: -
SP4:

Relevant External Links for C9orf114 Gene

GeneLoc Exon Structure for
C9orf114
ECgene alternative splicing isoforms for
C9orf114

Expression for C9orf114 Gene

mRNA expression in normal human tissues for C9orf114 Gene

Protein differential expression in normal tissues from HIPED for C9orf114 Gene

This gene is overexpressed in Lung (55.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C9orf114 Gene



SOURCE GeneReport for Unigene cluster for C9orf114 Gene Hs.224137

genes like me logo Genes that share expression patterns with C9orf114: view

Protein tissue co-expression partners for C9orf114 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 C9orf114 Gene

Orthologs for C9orf114 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for C9orf114 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C11H9orf114 35
  • 88.59 (n)
  • 94.39 (a)
C9orf114 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf114 35
  • 88.92 (n)
  • 92.55 (a)
C9orf114 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D2Wsu81e 35
  • 85.65 (n)
  • 90.37 (a)
D2Wsu81e 16
D2Wsu81e 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf114 35
  • 99.38 (n)
  • 99.2 (a)
C9orf114 36
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf114 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf114 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17H9orf114 35
  • 72.33 (n)
  • 73.7 (a)
C17H9ORF114 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf114 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf114 35
  • 67.78 (n)
  • 75.92 (a)
Str.1277 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.26356 35
zebrafish
(Danio rerio)
Actinopterygii sbcb90 35
zgc:101748 35
  • 69.25 (n)
  • 76.09 (a)
C21H9orf114 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007570 35
  • 58.99 (n)
  • 58.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12128 35
  • 56.12 (n)
  • 54.88 (a)
CG12128 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0361.6 35
  • 48.74 (n)
  • 44.48 (a)
B0361.6 36
  • 38 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 21 (a)
OneToMany
-- 36
  • 22 (a)
OneToMany
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19300 35
  • 51.01 (n)
  • 47.97 (a)
rice
(Oryza sativa)
Liliopsida Os.9692 35
Os04g0244500 35
  • 54.07 (n)
  • 52.58 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5582 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00597 35
  • 50.63 (n)
  • 43.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for C9orf114:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C9orf114 Gene

ENSEMBL:
Gene Tree for C9orf114 (if available)
TreeFam:
Gene Tree for C9orf114 (if available)

Paralogs for C9orf114 Gene

No data available for Paralogs for C9orf114 Gene

Variants for C9orf114 Gene

Sequence variations from dbSNP and Humsavar for C9orf114 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs6478854 - 128,826,609(+) CTCCT(C/G)TGAAT reference, missense
VAR_026553 -
rs34500948 - 128,828,755(+) CTGCC(A/G)CTGCC reference, missense
rs2272673 -- 128,826,248(-) AGACG(C/T)AGGTC intron-variant
rs2997905 -- 128,830,565(-) actta(C/T)ggtca upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf114 Gene

Variant ID Type Subtype PubMed ID
nsv893901 CNV Loss 21882294
nsv893902 CNV Gain 21882294
dgv8296n71 CNV Loss 21882294
nsv521120 CNV Loss 19592680
dgv8297n71 CNV Loss 21882294
nsv6724 CNV Insertion 18451855

Variation tolerance for C9orf114 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.63; 93.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf114 Gene

HapMap Linkage Disequilibrium report
C9orf114
Human Gene Mutation Database (HGMD)
C9orf114

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf114 Gene

Disorders for C9orf114 Gene

Relevant External Links for C9orf114

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf114

No disorders were found for C9orf114 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf114 Gene

Publications for C9orf114 Gene

  1. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. (PMID: 20813266) Ohta S. … Rappsilber J. (Cell 2010) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. (PMID: 22681889) Baltz A.G. … Landthaler M. (Mol. Cell 2012) 3

Products for C9orf114 Gene

Sources for C9orf114 Gene

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