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Aliases for C1orf56 Gene

Aliases for C1orf56 Gene

  • Chromosome 1 Open Reading Frame 56 2 3 5
  • Methylated In Normal Thymocytes Protein 3 4
  • Methylated In Normal Thymocytes 2
  • Protein MENT 3
  • MENT 3

External Ids for C1orf56 Gene

Previous GeneCards Identifiers for C1orf56 Gene

  • GC01P147836
  • GC01P147837
  • GC01P149287
  • GC01P149288
  • GC01P122397

Summaries for C1orf56 Gene

Entrez Gene Summary for C1orf56 Gene

  • This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]

GeneCards Summary for C1orf56 Gene

C1orf56 (Chromosome 1 Open Reading Frame 56) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C1orf56 Gene

  • Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B.

Additional gene information for C1orf56 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1orf56 Gene

Genomics for C1orf56 Gene

GeneHancer (GH) Regulatory Elements for C1orf56 Gene

Promoters and enhancers for C1orf56 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
GH01J151047 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.4 420 2.1 HDGF MLX ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 GLIS2 ZNF143 C1orf56 SEMA6C CTSS MLLT11 BNIPL
GH01J150557 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 31.6 -478.4 -478436 23.1 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC RN7SL600P MCL1 SETDB1 PIP5K1A PI4KB PRPF3 ARNT GOLPH3L HORMAD1 SF3B4
GH01J151280 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.5 +234.8 234847 3.8 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF687 GC01P151282 LOC100507670 PIP5K1A SETDB1 ARNT GOLPH3L PRPF3 MRPL9 GABPB2
GH01J151004 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.7 -40.3 -40295 5.2 CLOCK ZFP64 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 GLIS1 PRUNE1 CERS2 MINDY1 SETDB1 PIP5K1A PI4KB PRPF3 ARNT MRPL9 UBE2D3P3
GH01J151789 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.4 +743.1 743061 2 HDGF PKNOX1 SMAD1 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B YY1 SLC30A9 TDRKH-AS1 TDRKH PIP5K1A SETDB1 MRPL9 GABPB2 ARNT PI4KB UBE2D3P3 PRUNE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf56 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf56 gene promoter:
  • SEF-1 (1)
  • HSF1short
  • HSF1 (long)
  • NF-1/L
  • NF-1
  • HEN1
  • Chx10
  • Pax-4a

Genomic Locations for C1orf56 Gene

Genomic Locations for C1orf56 Gene
chr1:151,047,740-151,051,986
(GRCh38/hg38)
Size:
4,247 bases
Orientation:
Plus strand
chr1:151,020,216-151,024,462
(GRCh37/hg19)
Size:
4,247 bases
Orientation:
Plus strand

Genomic View for C1orf56 Gene

Genes around C1orf56 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf56 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf56 Gene

Proteins for C1orf56 Gene

  • Protein details for C1orf56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUN1-MENT_HUMAN
    Recommended name:
    Protein MENT
    Protein Accession:
    Q9BUN1
    Secondary Accessions:
    • B2RDU8
    • Q9NWZ4

    Protein attributes for C1orf56 Gene

    Size:
    341 amino acids
    Molecular mass:
    36769 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C1orf56 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1orf56 Gene

Post-translational modifications for C1orf56 Gene

  • Phosphorylation sites are present in the extracellular medium.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1orf56 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf56 Gene

Domains & Families for C1orf56 Gene

Gene Families for C1orf56 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C1orf56 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1orf56: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C1orf56 Gene

Function for C1orf56 Gene

Molecular function for C1orf56 Gene

UniProtKB/Swiss-Prot Function:
Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B.

Phenotypes From GWAS Catalog for C1orf56 Gene

Gene Ontology (GO) - Molecular Function for C1orf56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C1orf56: view
genes like me logo Genes that share phenotypes with C1orf56: view

Animal Models for C1orf56 Gene

MGI Knock Outs for C1orf56:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C1orf56 Gene

Localization for C1orf56 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1orf56 Gene

Secreted.

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 C1orf56 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C1orf56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C1orf56: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1orf56 Gene

Pathways & Interactions for C1orf56 Gene

SuperPathways for C1orf56 Gene

No Data Available

Interacting Proteins for C1orf56 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357922%0d%0a9606.ENSP00000322323%0d%0a
Selected Interacting proteins: ENSP00000357922 for C1orf56 Gene via STRING

Symbol External ID(s) Details
FAM20C

Gene Ontology (GO) - Biological Process for C1orf56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042127 regulation of cell proliferation IMP,IEA 22133874
genes like me logo Genes that share ontologies with C1orf56: view

No data available for Pathways by source and SIGNOR curated interactions for C1orf56 Gene

Drugs & Compounds for C1orf56 Gene

No Compound Related Data Available

Transcripts for C1orf56 Gene

mRNA/cDNA for C1orf56 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C1orf56 Gene

Chromosome 1 open reading frame 56:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf56 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1:
SP2:
SP3:

Relevant External Links for C1orf56 Gene

GeneLoc Exon Structure for
C1orf56
ECgene alternative splicing isoforms for
C1orf56

Expression for C1orf56 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf56 Gene

mRNA differential expression in normal tissues according to GTEx for C1orf56 Gene

This gene is overexpressed in Testis (x15.7).

Protein differential expression in normal tissues from HIPED for C1orf56 Gene

This gene is overexpressed in Serum (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1orf56 Gene



Protein tissue co-expression partners for C1orf56 Gene

NURSA nuclear receptor signaling pathways regulating expression of C1orf56 Gene:

C1orf56

SOURCE GeneReport for Unigene cluster for C1orf56 Gene:

Hs.549171

mRNA Expression by UniProt/SwissProt for C1orf56 Gene:

Q9BUN1-MENT_HUMAN
Tissue specificity: Plasma. Overexpressed in lymphomas.

Evidence on tissue expression from TISSUES for C1orf56 Gene

  • Kidney(4.2)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with C1orf56: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf56 Gene

Orthologs for C1orf56 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C1orf56 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf56 33
  • 99.8 (n)
C1orf56 34
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1359334 33
  • 76.02 (n)
dog
(Canis familiaris)
Mammalia C17H1orf56 33
  • 74.87 (n)
C1orf56 34
  • 63 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C3H1orf56 33
  • 73.04 (n)
C1orf56 34
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm128 16 34 33
  • 71.12 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf56 34
  • 32 (a)
OneToOne
Species where no ortholog for C1orf56 was found in the sources mined by GeneCards:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C1orf56 Gene

ENSEMBL:
Gene Tree for C1orf56 (if available)
TreeFam:
Gene Tree for C1orf56 (if available)

Paralogs for C1orf56 Gene

No data available for Paralogs for C1orf56 Gene

Variants for C1orf56 Gene

Sequence variations from dbSNP and Humsavar for C1orf56 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000588042 -- 151,047,699(+) G/A upstream_transcript_variant
rs1001756962 -- 151,051,659(+) G/C downstream_transcript_variant
rs1002214386 -- 151,046,467(+) G/A upstream_transcript_variant
rs1003653465 -- 151,046,287(+) T/C upstream_transcript_variant
rs1003842647 -- 151,050,071(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf56 Gene

Variant ID Type Subtype PubMed ID
nsv522840 CNV gain 19592680

Variation tolerance for C1orf56 Gene

Residual Variation Intolerance Score: 46.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf56 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf56

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf56 Gene

Disorders for C1orf56 Gene

Additional Disease Information for C1orf56

No disorders were found for C1orf56 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf56 Gene

Publications for C1orf56 Gene

  1. Loss of Dnmt3b function upregulates the tumor modifier Ment and accelerates mouse lymphomagenesis. (PMID: 22133874) Hlady RA … Opavsky R (The Journal of clinical investigation 2012) 2 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  3. DNMT3B7 expression related to MENT expression and its promoter methylation in human lymphomas. (PMID: 24094886) Alkebsi L … Murakami H (Leukemia research 2013) 3 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for C1orf56 Gene

Sources for C1orf56 Gene

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