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    C11orf68 chromosome 11 open reading frame 68 [ Homo sapiens (human) ]

    Gene ID: 83638, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C11orf68provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 68provided by HGNC
    Primary source
    HGNC:HGNC:28801
    See related
    Ensembl:ENSG00000175573 AllianceGenome:HGNC:28801
    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
    P5326; BLES03
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 21.4), testis (RPKM 21.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C11orf68 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65916810..65919062, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65909888..65912140, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65684281..65686533, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65661089-65661593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5021 Neighboring gene coiled-coil domain containing 85B Neighboring gene FOS like 1, AP-1 transcription factor subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65666730-65666957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3567 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5022 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65682731-65683930 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65685650-65686569 and GRCh37_chr11:65686570-65687490 Neighboring gene DR1 associated protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3343 Neighboring gene NANOG hESC enhancer GRCh37_chr11:65704708-65705232 Neighboring gene uncharacterized LOC105369350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65708489-65708988 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65708959-65709182 Neighboring gene testis specific 10 interacting protein

    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. Genome-wide search for eliminylating domains reveals novel function for BLES03-like proteins. Khater S, et al. Genome Biol Evol, 2014 Jul 24. PMID 25062915, Free PMC Article
    2. The structure at 2.5 A resolution of human basophilic leukemia-expressed protein BLES03. Bitto E, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 Sep 1. PMID 16511166, Free PMC Article
    3. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    5. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article

    See all (22) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0696 protein C11orf68
    Names
    basophilic leukemia expressed protein BLES03
    basophilic leukemia-expressed protein Bles03
    protein p5326

    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_001135635.2 → NP_001129107.1  UPF0696 protein C11orf68 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP006287
      Consensus CDS
      CCDS44652.1
      UniProtKB/Swiss-Prot
      Q9H3H3
      Related
      ENSP00000398350.2, ENST00000438576.3
      Conserved Domains (1) summary
      pfam08939
      Location:157 → 254
      DUF1917; Domain of unknown function (DUF1917)

    2. NM_031450.4 → NP_113638.2  UPF0696 protein C11orf68 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the CDS, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AP006287
      Consensus CDS
      CCDS8122.2
      UniProtKB/Swiss-Prot
      J3KQG9, Q9BT13, Q9H3H3
      Related
      ENSP00000409681.3, ENST00000449692.3
      Conserved Domains (1) summary
      pfam08939
      Location:156 → 253
      DUF1917; Domain of unknown function (DUF1917)

    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
      65916810..65919062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65909888..65912140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3H3.3 GenPept UniProtKB/Swiss-Prot:Q9H3H3

    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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