LOCUS       GU045555                 704 bp    mRNA    linear   HUM 03-MAY-2010
DEFINITION  Homo sapiens proteasome maturation protein (POMP) mRNA, complete
            cds.
ACCESSION   GU045555
VERSION     GU045555.1
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 704)
  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 704)
  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..704
                     /db_xref="H-InvDB:HIT000648459"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12"
                     /cell_type="keratinocyte"
     gene            1..704
                     /gene="POMP"
     5'UTR           1..181
                     /gene="POMP"
                     /note="wild type sequence; base deletion in UTR causes
                     mutation associated with KLICK genodermatosis"
     CDS             182..607
                     /gene="POMP"
                     /note="chaperone for proteasome assembly"
                     /codon_start=1
                     /product="proteasome maturation protein"
                     /protein_id="ADE92939.1"
                     /translation="MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLP
                     SHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSL
                     DVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL"
BASE COUNT          185 a          153 c          176 g          190 t
ORIGIN      
        1 attgcaagcg tgggagcctc ggccccgcgc agctccctcc ggcgtcccgc gccctccttc
       61 cttcctcgcc aggacggacg cacttccggc ggatgtgggg gccagccctc ggaaacggaa
      121 gtgagcggcg gggtcgactg acggtaacgg ggcagagagg ctgttcgcag agctgcggaa
      181 gatgaatgcc agaggacttg gatctgagct aaaggacagt attccagtta ctgaactttc
      241 agcaagtgga ccttttgaaa gtcatgatct tcttcggaaa ggtttttctt gtgtgaaaaa
      301 tgaacttttg cctagtcatc cccttgaatt atcagaaaaa aatttccagc tcaaccaaga
      361 taaaatgaat ttttccacac tgagaaacat tcagggtcta tttgctccgc taaaattaca
      421 gatggaattc aaggcagtgc agcaggttca gcgtcttcca tttctttcaa gctcaaatct
      481 ttcactggat gttttgaggg gtaatgatga gactattgga tttgaggata ttcttaatga
      541 tccatcacaa agcgaagtca tgggagagcc acacttgatg gtggaatata aacttggttt
      601 actgtaatag tgtgctgttc atggaaaccg agggctgcat cttgtttata gtcatctttg
      661 tactgtaatt tgatgtacac aacattaaaa gtactgacac ctga
//