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

Gene ID: 148423, updated on 10-Dec-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, Dec 2024]
Expression
Ubiquitous expression in brain (RPKM 7.8), bone marrow (RPKM 7.7) and 25 other tissues See more
Orthologs
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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.

Chemical Information
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