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

Gene ID: 54494, updated on 5-Mar-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
Summary
Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 41.5), kidney (RPKM 6.0) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
11q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114391443..114400511, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114401848..114410930, complement)
105.20220307 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. 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
  3. 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
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (9) 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)

Genotypes

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_2023_10

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

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