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 //