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    C1orf52 chromosome 1 open reading frame 52 [ Homo sapiens (human) ]

    Gene ID: 148423, updated on 5-Aug-2018

    Summary

    Official Symbol
    C1orf52provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 52provided by HGNC
    Primary source
    HGNC:HGNC:24871
    See related
    Ensembl:ENSG00000162642 Vega:OTTHUMG00000009966
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    gm117
    Expression
    Ubiquitous expression in brain (RPKM 7.8), bone marrow (RPKM 7.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See C1orf52 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (85249953..85259677, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85715636..85725355, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene synapse defective Rho GTPase homolog 2 Neighboring gene uncharacterized LOC105378821 Neighboring gene uncharacterized LOC646626 Neighboring gene B cell CLL/lymphoma 10 Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene uncharacterized LOC107985054

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ44982

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    UPF0690 protein C1orf52
    Names
    BCL10-associated gene 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_198077.3NP_932343.1  UPF0690 protein C1orf52

      See identical proteins and their annotated locations for NP_932343.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more frequently occurring transcript. It encodes a 182 aa protein.
      Source sequence(s)
      AK126929, AL590113, AY486331, BX118798
      Consensus CDS
      CCDS703.1
      UniProtKB/Swiss-Prot
      Q8N6N3
      Related
      ENSP00000419417.1, OTTHUMP00000011650, ENST00000471115.5, OTTHUMT00000027616
      Conserved Domains (1) summary
      pfam15559
      Location:30127
      DUF4660; Domain of unknown function (DUF4660)

    RNA

    1. NR_024113.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AL590113, AY486332, BX118798, DA214065
      Related
      ENST00000294661.8

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      85249953..85259677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453363.1XP_024309131.1  UPF0690 protein C1orf52 isoform X1

      Conserved Domains (1) summary
      pfam15559
      Location:30127
      DUF4660; Domain of unknown function (DUF4660)
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