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    C11orf71 chromosome 11 open reading frame 71 [ Homo sapiens (human) ]

    Gene ID: 54494, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C11orf71provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 71provided by HGNC
    Primary source
    HGNC:HGNC:25937
    See related
    Ensembl:ENSG00000180425 AllianceGenome:HGNC:25937
    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
    URLC7
    Expression
    Broad expression in testis (RPKM 41.5), kidney (RPKM 6.0) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C11orf71 in Genome Data Viewer
    Location:
    11q23.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114391443..114400511, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114401848..114410930, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (114262165..114271233, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114128337-114128865 Neighboring gene nicotinamide N-methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:114166597-114167097 Neighboring gene uncharacterized LOC101928940 Neighboring gene uncharacterized LOC107984391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:114270475-114271017 and GRCh37_chr11:114271018-114271560 Neighboring gene RNA binding motif protein 7 Neighboring gene RNA exonuclease 2

    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
    • 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. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Torgerson DG, et al. Nat Genet, 2011 Jul 31. PMID 21804549, Free PMC Article
    2. LncRNA NRON promotes tumorigenesis by enhancing MDM2 activity toward tumor suppressor substrates. Guo Q, et al. EMBO J, 2023 Aug 15. PMID 37382239, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. 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
    5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

    See all (10) 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
    Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20010

    General protein information

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    Preferred Names
    uncharacterized protein C11orf71
    Names
    up-regulated in lung cancer 7

    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_001271562.2 → NP_001258491.1  uncharacterized protein C11orf71 isoform 1

      See identical proteins and their annotated locations for NP_001258491.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AK000017, AP002373, HY013971
      Consensus CDS
      CCDS76479.1
      UniProtKB/Swiss-Prot
      Q6IAD3, Q6IPW1, Q9NXX1
      UniProtKB/TrEMBL
      A0A0A8K8C2
      Related
      ENSP00000492536.1, ENST00000623205.2
      Conserved Domains (1) summary
      pfam15747
      Location:1 → 112
      DUF4687; Domain of unknown function (DUF4687)

    2. NM_019021.4 → NP_061894.2  uncharacterized protein C11orf71 isoform 2

      See identical proteins and their annotated locations for NP_061894.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon structure in the 3' coding region, and differs in the 3' UTR, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AP002373, BC071695, HY013971
      Consensus CDS
      CCDS8369.2
      UniProtKB/Swiss-Prot
      Q6IPW1
      Related
      ENSP00000325508.4, ENST00000325636.8
      Conserved Domains (1) summary
      pfam15747
      Location:1 → 112
      DUF4687; Domain of unknown function (DUF4687)

    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
      114391443..114400511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      114401848..114410930 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IPW1.2 GenPept UniProtKB/Swiss-Prot:Q6IPW1

    Gene LinkOut

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

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