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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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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
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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

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