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

    Gene ID: 83638, updated on 11-Jun-2021

    Summary

    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
    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
    Expression
    Ubiquitous expression in ovary (RPKM 21.4), testis (RPKM 21.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See C11orf68 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65916810..65919062, complement)
    105.20201022 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 CRISPRi-validated cis-regulatory element chr11.3338 Neighboring gene NFE2L2 motif-containing MPRA enhancer 146/147 Neighboring gene DR1 associated protein 1 Neighboring gene uncharacterized LOC105369349 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3343

    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 Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    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_001135635.2NP_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:157254
      DUF1917; Domain of unknown function (DUF1917)
    2. NM_031450.4NP_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
      Q9H3H3
      Related
      ENSP00000409681.3, ENST00000449692.3
      Conserved Domains (1) summary
      pfam08939
      Location:156253
      DUF1917; Domain of unknown function (DUF1917)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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