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    HRURF HR upstream open reading frame [ Homo sapiens (human) ]

    Gene ID: 120766137, updated on 21-Mar-2024

    Summary

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    Official Symbol
    HRURFprovided by HGNC
    Official Full Name
    HR upstream open reading frameprovided by HGNC
    Primary source
    HGNC:HGNC:55085
    See related
    Ensembl:ENSG00000288677 MIM:619257; AllianceGenome:HGNC:55085
    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
    HMU; MUHH; U2HR
    Summary
    Implicated in hypotrichosis 4. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
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    Genomic context

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    See HRURF in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22130458..22131010, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22404406..22404958, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21987971..21988523, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21951526-21952026 Neighboring gene FHF complex subunit HOOK interacting protein 2B Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21961808-21961955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:21964802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21965271-21966044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21969459-21969958 Neighboring gene nudix hydrolase 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21972531-21973193 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21977874-21978076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21978415-21978914 Neighboring gene HR lysine demethylase and nuclear receptor corepressor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21981891-21982392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21982393-21982892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21987125-21987702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997193-21997801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997802-21998409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18981 Neighboring gene receptor accessory protein 4 Neighboring gene leucine rich repeat LGI family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. Sreekumar GP, et al. J Invest Dermatol, 2000 Mar. PMID 10777357
    2. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. van Steensel M, et al. Am J Hum Genet, 1999 Aug. PMID 10417283, Free PMC Article
    3. Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family. Huang Y, et al. J Dermatol, 2019 May. PMID 30809827
    4. Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA. Kim JK, et al. Exp Mol Med, 2018 Feb 9. PMID 29422543, Free PMC Article
    5. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Wen Y, et al. Nat Genet, 2009 Feb. PMID 19122663

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypotrichosis 4
    MedGen: C2750815 OMIM: 146550 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein HRURF
    Names
    HR upstream reading frame

    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_001394132.1 → NP_001381061.1  protein HRURF

      Status: VALIDATED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS94263.1
      UniProtKB/Swiss-Prot
      P0DUH7
      UniProtKB/TrEMBL
      A0A7P0T8H1
      Related
      ENSP00000505144.1, ENST00000518377.3

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22130458..22131010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22404406..22404958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DUH7.1 GenPept UniProtKB/Swiss-Prot:P0DUH7

    Gene LinkOut

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