LOCUS       GU045556                 703 bp    mRNA    linear   HUM 03-MAY-2010
DEFINITION  Homo sapiens proteasome maturation protein (POMP) mRNA, complete
            cds.
ACCESSION   GU045556
VERSION     GU045556.1
KEYWORDS    .
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 703)
  AUTHORS   Dahlqvist,J., Klar,J., Tiwari,N., Schuster,J., Torma,H., Badhai,J.,
            Pujol,R., van Steensel,M.A., Brinkhuizen,T., Gijezen,L., Chaves,A.,
            Tadini,G., Vahlquist,A. and Dahl,N.
  TITLE     A single-nucleotide deletion in the POMP 5' UTR causes a
            transcriptional switch and altered epidermal proteasome
            distribution in KLICK genodermatosis
  JOURNAL   Am. J. Hum. Genet. 86 (4), 596-603 (2010)
   PUBMED   20226437
REFERENCE   2  (bases 1 to 703)
  AUTHORS   Dahlqvist,J., Vahlquist,A., Dahl,N., Klar,J., Pandey,N.,
            Schuster,J., Torma,H., Pujol,R.M., van Steensel,M. and Chaves,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (30-SEP-2009) Dep. of Genetics and Pathology, Uppsala
            University, Rudbecklab 2nd floor, Dag Hammarskiolds vag 20, Uppsala
            75185, Sweden
FEATURES             Location/Qualifiers
     source          1..703
                     /db_xref="H-InvDB:HIT000648460"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12"
                     /cell_type="keratinocyte"
     gene            1..703
                     /gene="POMP"
     5'UTR           1..180
                     /gene="POMP"
                     /note="sequence in this record has deletion in UTR which
                     causes mutation associated with KLICK genodermatosis;
                     additional base results in wild type sequence"
     CDS             181..606
                     /gene="POMP"
                     /note="chaperone for proteasome assembly"
                     /codon_start=1
                     /product="proteasome maturation protein"
                     /protein_id="ADE92940.1"
                     /translation="MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLP
                     SHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSL
                     DVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL"
BASE COUNT          185 a          152 c          176 g          190 t
ORIGIN      
        1 attgcaagcg tgggagcctc ggccccgcgc agctccctcc ggcgtcccgc gccctccttc
       61 cttcctcgcc aggacggacg cacttcggcg gatgtggggg ccagccctcg gaaacggaag
      121 tgagcggcgg ggtcgactga cggtaacggg gcagagaggc tgttcgcaga gctgcggaag
      181 atgaatgcca gaggacttgg atctgagcta aaggacagta ttccagttac tgaactttca
      241 gcaagtggac cttttgaaag tcatgatctt cttcggaaag gtttttcttg tgtgaaaaat
      301 gaacttttgc ctagtcatcc ccttgaatta tcagaaaaaa atttccagct caaccaagat
      361 aaaatgaatt tttccacact gagaaacatt cagggtctat ttgctccgct aaaattacag
      421 atggaattca aggcagtgca gcaggttcag cgtcttccat ttctttcaag ctcaaatctt
      481 tcactggatg ttttgagggg taatgatgag actattggat ttgaggatat tcttaatgat
      541 ccatcacaaa gcgaagtcat gggagagcca cacttgatgg tggaatataa acttggttta
      601 ctgtaatagt gtgctgttca tggaaaccga gggctgcatc ttgtttatag tcatctttgt
      661 actgtaattt gatgtacaca acattaaaag tactgacacc tga
//