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 //