LOCUS EF186228 2065 bp mRNA linear HUM 22-JAN-2007 DEFINITION Homo sapiens mutant lipase H mRNA, complete cds. ACCESSION EF186228 VERSION EF186228.1 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 2065) AUTHORS Kazantseva,A., Goltsov,A., Zinchenko,R., Grigorenko,A.P., Abrukova,A.V., Moliaka,Y.K., Kirillov,A.G., Guo,Z., Lyle,S., Ginter,E.K. and Rogaev,E.I. TITLE Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH JOURNAL Science 314 (5801), 982-985 (2006) PUBMED 17095700 REFERENCE 2 (bases 1 to 2065) AUTHORS Kazantseva,A., Goltsov,A., Zinchenko,R., Grigorenko,A.P., Abrukova,A.V., Moliaka,Y.K., Kirillov,A.G., Ginter,E.K. and Rogaev,E.I. TITLE Direct Submission JOURNAL Submitted (14-DEC-2006) BNRI, University of Massachusetts Medical School, 303 Belmont, Worcester, MA 01604, USA FEATURES Location/Qualifiers source 1..2065 /db_xref="H-InvDB:HIT000395329" /organism="Homo sapiens" /mol_type="mRNA" /isolate="patient C" /isolation_source="patient with hypotrichosis" /db_xref="taxon:9606" /chromosome="3" /map="3q27" /cell_type="keratinocytes" 5'UTR <1..87 CDS 88..1341 /note="contains deletion of exon 4" /codon_start=1 /product="mutant lipase H" /protein_id="ABM67094.1" /translation="MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLM LYTRKNLTCAQTINSSAFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMN VVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHIS GFVGEMYDGWLGRITALGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQRSV YLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYADNWKDHLRGKD PPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTESKINHEPT TFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAHPERPQL CRYDLVLMENVETVFQPILCPELQL" 3'UTR 1342..>2065 BASE COUNT 576 a 464 c 491 g 534 t ORIGIN 1 tgagcaaaat cccacagtgg aaactcttaa gcctctgcga agtaaatcat tcttgtgaat 61 gtgacacacg atctctccag tttccatatg ttgagattct acttattcat cagtttgttg 121 tgcttgtcaa gatcagacgc agaagaaaca tgtccttcat tcaccaggct gagctttcac 181 agtgcagtgg ttggtacggg actaaatgtg aggctgatgc tctacacaag gaaaaacctg 241 acctgcgcac aaaccatcaa ctcctcagct tttgggaact tgaatgtgac caagaaaacc 301 accttcattg tccatggatt caggccaaca ggctcccctc ctgtttggat ggatgactta 361 gtaaagggtt tgctctctgt tgaagacatg aacgtagttg ttgttgattg gaatcgagga 421 gctacaactt taatatatac ccatgcctct agtaagacca gaaaagtagc catggtcttg 481 aaggaattta ttgaccagat gttggcagaa ggagcttctc ttgatgacat ttacatgatc 541 ggagtaagtc taggagccca catatctggg tttgttggag agatgtacga tggatggctg 601 gggagaatta cagcactggg ctacaaggag ccattaggaa acatagactt ctacccaaat 661 ggaggattgg atcaacctgg ctgccccaaa acaatattgg gaggatttca gtattttaaa 721 tgtgaccacc agaggtctgt atacctgtac ctgtcttccc tgagagagag ctgcaccatc 781 actgcgtatc cctgtgactc ctaccaggat tataggaatg gcaagtgtgt cagctgcggc 841 acgtcacaaa aagagtcctg tccccttctg ggctattatg ctgataattg gaaagaccat 901 ctaaggggga aagatcctcc aatgacgaag gcattctttg acacagctga ggagagccca 961 ttctgcatgt atcattactt tgtggatatt ataacatgga acaagaatgt aagaagaggg 1021 gacattacca tcaaattgag agacaaagct ggaaacacca cagaatccaa aatcaatcat 1081 gaacccacca catttcagaa atatcaccaa gtgagtctac ttgcaagatt taatcaagat 1141 ctggataaag tggctgcaat ttccttgatg ttctctacag gatctctaat aggcccaagg 1201 tacaagctca ggattctccg aatgaagtta aggtcccttg cccatccgga gaggcctcag 1261 ctgtgtcggt atgatcttgt cctgatggaa aacgttgaaa cagtcttcca acctattctt 1321 tgcccagagt tgcagttgta actgttgcca ggacacatgg ccataaataa tagaaagaaa 1381 gctacaacca caggctgttt gaaagcttca cctcaccttt ctgcaaagca gaaaaagtat 1441 gaaaaaaacc aaggcttttt tcagtagcgt cctatggatg tcacattgta catcaaacaa 1501 ccttgtgatt ataaaacgat cctgggaagg agcccctaac tagggcaagt cagaaatagc 1561 caggctcgca gcagcgcagc gctgtgtctg ctgtgtcctg gggcctccct tgttccgacc 1621 tgtcaattct gctgcctgtc acgcgggtgg ttctgcccat cgcggctgcg ggtcaagcat 1681 cttcaaggga aggacggact ggaggcctca ccgtggactc aactctgcat tctccgtgcc 1741 acattcctcc agttcccaca cgtagaaggg aacgaaactg acgtctacct catggggctg 1801 ctgtgtgggt ttgggaggca aaaatctatg aagggttttt tgaaatccca taggtgccac 1861 atctatgaga tgtttgataa atgtgaatat gcttttacat ttgggcttat ctaatttgca 1921 ataagagagc ctctctctat caacaccagc ttctctctcg ggctgtttgc tcagggaagg 1981 caagaaagcc acgtgctggc cctctgcctt ctctaaagtg ctgttggagc atggaggagc 2041 tggaggagat ggggatggac tgaca //