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

Gene ID: 54964, updated on 10-Dec-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
109.20191205 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, ENST00000368926.6
    Conserved Domains (1) summary
    pfam15322
    Location:27336
    PMSI1; Protein missing in infertile sperm 1, putative

RefSeqs of Annotated Genomes: Homo sapiens Updated 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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