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    C1orf56 chromosome 1 open reading frame 56 [ Homo sapiens (human) ]

    Gene ID: 54964, updated on 17-Jun-2019

    Summary

    Official Symbol
    C1orf56provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 56provided by HGNC
    Primary source
    HGNC:HGNC:26045
    See related
    Ensembl:ENSG00000143443
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MENT
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 26.8), spleen (RPKM 8.3) and 24 other tissues See more
    Orthologs

    Genomic context

    See C1orf56 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (151047751..151051420)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151020259..151023896)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene prune exopolyphosphatase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene Neighboring gene BCL2 interacting protein like Neighboring gene CDC42 small effector 1 Neighboring gene MLLT11 transcription factor 7 cofactor Neighboring gene GA binding protein transcription factor subunit beta 2 Neighboring gene ribosomal protein S29 pseudogene 29

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20519

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein MENT
    Names
    methylated in normal thymocytes protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017860.5NP_060330.2  protein MENT precursor

      See identical proteins and their annotated locations for NP_060330.2

      Status: REVIEWED

      Source sequence(s)
      AL590133, AY358436, BC002469, HY211880
      Consensus CDS
      CCDS980.1
      UniProtKB/Swiss-Prot
      Q9BUN1
      Related
      ENSP00000357922.5, ENST00000368926.5
      Conserved Domains (1) summary
      pfam15322
      Location:27336
      PMSI1; Protein missing in infertile sperm 1, putative

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      151047751..151051420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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