LOCUS Y13667 3452 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for putative transcription factor XPRF. ACCESSION Y13667 VERSION Y13667.1 KEYWORDS transcription factor XPRF; Xprf gene. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Quaderi N., Schweiger S., Gaudenz K., Franco B., Rugarli E.I., Berger W., Feldman G.J., Volta M., Andolfi G., Gilgenkrantz S., Marion R.W., Hennekam R.C.M., Opit J.M., Muenke M., Ropers H.H., Ballabio A. TITLE Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 JOURNAL Nat Genet 17(3), 285-291(1997). PUBMED 9354791 REFERENCE 2 (bases 1 to 3452) AUTHORS Rugarli E.I. JOURNAL Submitted (09-JUN-1997) to the INSDC. E.I. Rugarli, TIGEM - Telethon Institute of Genetics and Medicine, Via Olgettina, 58, I-20132 Milano, ITALY REMARK revised by submitter 28-JUL-1997 FEATURES Location/Qualifiers source 1..3452 /db_xref="H-InvDB:HIT000325789" /organism="Homo sapiens" /chromosome="X" /map="p22.3" /mol_type="mRNA" /clone_lib="NT-2 differentiated" /db_xref="taxon:9606" CDS 187..2190 /gene="Xprf" /product="putative transcription factor XPRF" /db_xref="GOA:O15344" /db_xref="H-InvDB:HIT000325789.13" /db_xref="HGNC:HGNC:7095" /db_xref="InterPro:IPR000315" /db_xref="InterPro:IPR001841" /db_xref="InterPro:IPR001870" /db_xref="InterPro:IPR003649" /db_xref="InterPro:IPR003877" /db_xref="InterPro:IPR003879" /db_xref="InterPro:IPR003961" /db_xref="InterPro:IPR006574" /db_xref="InterPro:IPR013083" /db_xref="InterPro:IPR013320" /db_xref="InterPro:IPR013783" /db_xref="InterPro:IPR017903" /db_xref="InterPro:IPR017907" /db_xref="InterPro:IPR027370" /db_xref="InterPro:IPR027727" /db_xref="InterPro:IPR036116" /db_xref="InterPro:IPR040859" /db_xref="PDB:2DQ5" /db_xref="PDB:2FFW" /db_xref="PDB:2JUN" /db_xref="PDB:5IM8" /db_xref="UniProtKB/Swiss-Prot:O15344" /protein_id="CAA74018.1" /translation="METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCAT NESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSETRR ERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHR LIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKLVGRHRDHQVAALSERYDK LKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQR RQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKN ITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELC TASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTV HGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVER DESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHE WIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSI HLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP" BASE COUNT 952 a 824 c 767 g 909 t ORIGIN 1 atttcgccgg gttgcttttg tcttgcgggc tcctgtcggg ttcggtgttt ccgctctgaa 61 gactgcgacg cgggctccga tgcagctcgc tccctgccgg atgggtcatg ggattctaaa 121 catgaggcag atagctgatc agcttccttg ggttttgctg atgacacaag agagctttgc 181 ctgaagatgg aaacactgga gtcagaactg acctgcccta tttgtctgga gctctttgag 241 gaccctcttc tactgccctg cgcacacagc ctctgcttca actgcgccca ccgcatccta 301 gtatcacact gtgccaccaa cgagtctgtg gagtccatca ccgccttcca gtgccccacc 361 tgccggcatg tcatcaccct cagccagcga ggtctagacg ggctcaagcg caacgtcacc 421 ctacagaaca tcatcgacag gttccagaaa gcatcagtga gcgggcccaa ctctcccagc 481 gagacccgtc gggagcgggc ctttgacgcc aacaccatga cctccgccga gaaggtcctc 541 tgccagtttt gtgaccagga tcctgcccag gacgctgtga agacctgtgt cacttgtgaa 601 gtatcctact gtgacgagtg cctgaaagcc actcacccga ataagaagcc ctttacaggc 661 catcgtctga ttgagccaat tccggactct cacatccggg ggctgatgtg cttggagcat 721 gaggatgaga aggtgaatat gtactgtgtg accgatgacc agttaatctg tgccttgtgt 781 aaactggttg ggcggcaccg cgatcatcag gtggcagctt tgagtgagcg ctatgacaaa 841 ttgaagcaaa acttagagag taacctcacc aaccttatta agaggaacac agaactggag 901 acccttttgg ctaaactcat ccaaacctgt caacatgttg aagtcaatgc atcacgtcaa 961 gaagccaaat tgacagagga gtgtgatctt ctcattgaga tcattcagca aagacgacag 1021 attattggaa ccaagatcaa agaagggaag gtgatgaggc ttcgcaaact ggctcagcag 1081 attgcaaact gcaaacagtg cattgagcgg tcagcatcac tcatctccca agcggaacac 1141 tctctgaagg agaatgatca tgcgcgtttc ctacagactg ctaagaatat caccgagaga 1201 gtctccatgg caactgcatc ctcccaggtt ctaattcctg aaatcaacct caatgacaca 1261 tttgacacct ttgccttaga tttttcccga gagaagaaac tgctagaatg tctggattac 1321 cttacagctc ccaaccctcc cacaattaga gaagagctct gcacagcttc atatgacacc 1381 atcactgtgc attggacctc cgatgatgag ttcagcgtgg tctcctacga gctccagtac 1441 accatattca ccggacaagc caacgtcgtt agtctgtgta attcggctga tagctggatg 1501 atagtaccca acatcaagca gaaccactac acggtgcacg gtctgcagag cggcaccaag 1561 tacatcttca tggtcaaggc catcaaccag gcgggcagcc gcagcagtga gcctgggaag 1621 ttgaagacaa acagccaacc atttaaactg gatcccaaat ctgctcatcg aaaactgaag 1681 gtgtcccatg ataacttgac agtagaacgt gatgagtcat catccaagaa gagtcacaca 1741 cctgaacgct tcaccagcca ggggagctat ggagtagctg gaaatgtgtt tattgatagt 1801 ggccggcatt attgggaagt ggtcataagt ggaagcacat ggtatgccat tggtcttgct 1861 tacaaatcag ccccgaagca tgaatggatt gggaagaact ctgcttcctg ggcgctctgc 1921 cgctgcaaca ataactgggt ggtgagacac aatagcaagg aaatccccat tgagcctgcc 1981 ccccacctcc ggcgcgtggg catcctgctg gactatgata acggctctat cgccttttat 2041 gatgctttga actccatcca cctctacacc ttcgacgtcg catttgcgca gcctgtttgc 2101 cccaccttca ccgtgtggaa caagtgtctg acgattatca ctgggctccc tatcccagac 2161 catttggact gcacagagca gctgccgtga gcgtctggcc acatggagct gctttctggg 2221 gaacagtaag gttcaggcca ctatttaggg gactgagaaa gcacaggctt catgagtgta 2281 atgaaatctc accagaagtg tcccgaaatc ggctcagata gggctcaaaa caagagattc 2341 ctctcctttt actgtgtctt gtattaagta cgggctttaa taatttcttt aatttttttg 2401 tatttagagg aaaatctata gattatttat aagagaaaca taatcaggat tacaactttt 2461 aggaattact tggttttgca cattaagagg cccataagtt tatcagctat ttacaacctt 2521 catttcatca caatctgtgg gcttacaaaa aaacaaaaac ttttgtagtt ttgtatgtta 2581 ctcatcttct tacctgatat cccatgatga tcccatggta ggtcttctca cctcgatggt 2641 gcataacagg atgtgtttga acctagtagg ggaggaaaca ggctttctta ctctggttta 2701 atttgaagtg ttttaattgt gatgtcaaaa agttgtatca gatcaactaa aatggagagc 2761 aagacagaga atgaaaagag ttgattttgg acctcggacc ttgccgtggc taaatcttta 2821 ccttctcata gctgatggga taatgttgga aagaaaggtt gtgaatcctt tggccacatt 2881 ttgccctgct tctctcaggg ttaagggttc tggaagaaca ttaagaatga gatgcaattg 2941 aaaatagtca ttttgaatcc tattgattat tcaaaaattc aggctgattg tcttttatca 3001 gaggtaggat tctgttttat agtatagaat ctactttatc ccttcctttt aatagttcct 3061 ttagacctgt gaaatttctt cactacattt aatagttctc ctatttcccg ctcccccata 3121 tcaattttcc ttttgtctcc ggggctgagt aaataaacat gttctgtcac aaatagcagc 3181 accactttgg attgattttg ctctccagga catcagcaca tggccctgat cagcactacc 3241 acatccaaac ataagtcact gaaaaacact taatatttat gagttggtaa tgacaaggga 3301 cattgtataa agtactattt gctagattca tgcctcaaaa gttattataa acagaccttt 3361 attaaacaca tcttgaaaga tgtagaagtc cctctatagt ctagtatagt ttacaataga 3421 gttgtaagac caaaaaaaaa aaaaaaaaaa aa //