LOCUS       NM_001394132             553 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens HR upstream open reading frame (HRURF), mRNA.
ACCESSION   NM_001394132
VERSION     NM_001394132.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 553)
  AUTHORS   Huang,Y., Cai,C., Ren,L., Cui,C., Zhang,X. and Liu,W.
  TITLE     Marie Unna hereditary hypotrichosis accompanied by multiple
            familial trichoepithelioma in a Chinese family
  JOURNAL   J Dermatol 46 (5), 413-417 (2019)
   PUBMED   30809827
REFERENCE   2  (bases 1 to 553)
  AUTHORS   Kim,J.K., Kim,I., Choi,K., Choi,J.H., Kim,E., Lee,H.Y., Park,J. and
            Kim Yoon,S.
  TITLE     Poly(rC) binding protein 2 acts as a negative regulator of
            IRES-mediated translation of Hr mRNA
  JOURNAL   Exp Mol Med 50 (2), e441 (2018)
   PUBMED   29422543
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 553)
  AUTHORS   Wen,Y., Liu,Y., Xu,Y., Zhao,Y., Hua,R., Wang,K., Sun,M., Li,Y.,
            Yang,S., Zhang,X.J., Kruse,R., Cichon,S., Betz,R.C., Nothen,M.M.,
            van Steensel,M.A., van Geel,M., Steijlen,P.M., Hohl,D., Huber,M.,
            Dunnill,G.S., Kennedy,C., Messenger,A., Munro,C.S., Terrinoni,A.,
            Hovnanian,A., Bodemer,C., de Prost,Y., Paller,A.S., Irvine,A.D.,
            Sinclair,R., Green,J., Shang,D., Liu,Q., Luo,Y., Jiang,L.,
            Chen,H.D., Lo,W.H., McLean,W.H., He,C.D. and Zhang,X.
  TITLE     Loss-of-function mutations of an inhibitory upstream ORF in the
            human hairless transcript cause Marie Unna hereditary hypotrichosis
  JOURNAL   Nat Genet 41 (2), 228-233 (2009)
   PUBMED   19122663
  REMARK    Erratum:[Nat Genet. 2009 Jun;41(6):762]
REFERENCE   4  (bases 1 to 553)
  AUTHORS   Sreekumar,G.P., Roberts,J.L., Wong,C.Q., Stenn,K.S. and Parimoo,S.
  TITLE     Marie Unna hereditary hypotrichosis gene maps to human chromosome
            8p21 near hairless
  JOURNAL   J Invest Dermatol 114 (3), 595-597 (2000)
   PUBMED   10777357
REFERENCE   5  (bases 1 to 553)
  AUTHORS   van Steensel,M., Smith,F.J., Steijlen,P.M., Kluijt,I.,
            Stevens,H.P., Messenger,A., Kremer,H., Dunnill,M.G., Kennedy,C.,
            Munro,C.S., Doherty,V.R., McGrath,J.A., Covello,S.P., Coleman,C.M.,
            Uitto,J. and McLean,W.H.
  TITLE     The gene for hypotrichosis of Marie Unna maps between D8S258 and
            D8S298: exclusion of the hr gene by cDNA and genomic sequencing
  JOURNAL   Am J Hum Genet 65 (2), 413-419 (1999)
   PUBMED   10417283
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC105206.8.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000518377.3/ ENSP00000505144.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-553               AC105206.8         156838-157390
FEATURES             Location/Qualifiers
     source          1..553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..553
                     /gene="HRURF"
                     /gene_synonym="HMU; MUHH; U2HR"
                     /note="HR upstream open reading frame"
                     /db_xref="GeneID:120766137"
                     /db_xref="HGNC:HGNC:55085"
                     /db_xref="MIM:619257"
     exon            1..553
                     /gene="HRURF"
                     /gene_synonym="HMU; MUHH; U2HR"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..407
                     /gene="HRURF"
                     /gene_synonym="HMU; MUHH; U2HR"
                     /note="HR upstream reading frame"
                     /codon_start=1
                     /product="protein HRURF"
                     /protein_id="NP_001381061.1"
                     /db_xref="CCDS:CCDS94263.1"
                     /db_xref="GeneID:120766137"
                     /db_xref="HGNC:HGNC:55085"
                     /db_xref="MIM:619257"
                     /translation="MAQPTASAQKLVRPIRAVCRILQIPESDPSNLRP"
ORIGIN      
        1 agttgcgctt ctggcgatgg cgatcagagg tcctgctgcg ctctccgccg cgctctacct
       61 ccattagccg cgctgcgcgg tgctgcgccc tcgccggtgc ctctctcctg ggtcccagga
      121 tcggccccca ccatccaggc acgaccccct tccccggccc ctcggccttt cccccaactc
      181 ggccatctcc gacccggggc gcgtgttccc cccggcccgg cgccttctct ccctccgggg
      241 gcacccgctc cctagccccg gcccggccct ccccgcggcg cagcacggag tctcggcgtc
      301 ccatggcgca acctacggcc tcggcccaga agctggtgcg gccgatccgc gccgtgtgcc
      361 gcatcctgca gatcccggag tccgacccct ccaacctgcg gccctagagc gcccccgccg
      421 ccccggggga aggagagcgc gagcgcgctg agcagacaga gcgggagaac gcgtcctcgc
      481 ccgccggccg ggaggccccg gagctggccc atggggagca ggcgcccggt gccggccacg
      541 acgaccgcca ccg
//
