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    C11orf52 chromosome 11 open reading frame 52 [ Homo sapiens (human) ]

    Gene ID: 91894, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C11orf52provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 52provided by HGNC
    Primary source
    HGNC:HGNC:30531
    See related
    Ensembl:ENSG00000149300 AllianceGenome:HGNC:30531
    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
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 18.9), thyroid (RPKM 11.7) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C11orf52 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111918913..111926871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111929157..111937115)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111789637..111797595)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene heat shock protein family B (small) member 2 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3904 Neighboring gene DIX domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111848219-111848850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5528 Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene dihydrolipoamide S-acetyltransferase

    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. Flashlight into the Function of Unannotated C11orf52 using Affinity Purification Mass Spectrometry. Yang Y, et al. J Proteome Res, 2021 Dec 3. PMID 34739247
    2. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    3. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Kovalski JR, et al. Mol Cell, 2019 Feb 21. PMID 30639242, Free PMC Article
    4. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Readthrough HSPB2-C11orf52

    Readthrough gene: HSPB2-C11orf52, Included gene: HSPB2

    Homology

    Clone Names

    • FLJ25219, MGC14839, MGC131888

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C11orf52

    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_080659.3 → NP_542390.2  uncharacterized protein C11orf52

      See identical proteins and their annotated locations for NP_542390.2

      Status: VALIDATED

      Source sequence(s)
      BC008501, BQ102454
      Consensus CDS
      CCDS8353.1
      UniProtKB/Swiss-Prot
      Q96A22
      Related
      ENSP00000278601.5, ENST00000278601.6
      Conserved Domains (1) summary
      pfam15147
      Location:1 → 123
      DUF4578; Domain of unknown function (DUF4578)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111918913..111926871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111929157..111937115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A22.2 GenPept UniProtKB/Swiss-Prot:Q96A22

    Gene LinkOut

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

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