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

    Gene ID: 148423, updated on 3-Nov-2024

    Summary

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    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 AllianceGenome:HGNC:24871
    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
    Summary
    Enables RNA binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.8), bone marrow (RPKM 7.7) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See C1orf52 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (85249953..85259662, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (85091053..85100781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85715636..85725345, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene synapse defective Rho GTPase homolog 2 Neighboring gene uncharacterized LOC124904207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:85665814-85666425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1031 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:85690807-85690967 Neighboring gene uncharacterized LOC105378821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1032 Neighboring gene Sharpr-MPRA regulatory region 4548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1267 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85741508-85742707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1269 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85754924-85756123 Neighboring gene BCL10 antisense RNA 1 Neighboring gene BCL10 immune signaling adaptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85773869-85774369 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:85790493-85791014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9272 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85794423-85795001 Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:85859729-85860506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1035 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:85960912-85962111 Neighboring gene uncharacterized LOC124904208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1036

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

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    Related articles in PubMed

    1. Identification of six novel genes by experimental validation of GeneMachine predicted genes. Makalowska I, et al. Gene, 2002 Feb 6. PMID 11891061
    2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
    3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Rush J, et al. Nat Biotechnol, 2005 Jan. PMID 15592455
    4. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. Elzi DJ, et al. J Proteome Res, 2014 Aug 1. PMID 24999758, Free PMC Article
    5. A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex. Bedir M, et al. EMBO Rep, 2024 Aug. PMID 38943005, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44982

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    UPF0690 protein C1orf52
    Names
    BCL10-associated gene protein

    NCBI Reference Sequences (RefSeq)

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    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_198077.4 → NP_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
      B3KX89, Q8N6N3, Q8TDK5, Q8TDK6
      Related
      ENSP00000419417.1, ENST00000471115.6
      Conserved Domains (2) summary
      pfam11696
      Location:106 → 182
      DUF3292; Protein of unknown function (DUF3292)
      pfam15559
      Location:30 → 127
      DUF4660; Domain of unknown function (DUF4660)

    RNA

    1. NR_024113.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      85249953..85259662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      85091053..85100781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485932.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6N3.1 GenPept UniProtKB/Swiss-Prot:Q8N6N3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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