LOCUS AF196865 3518 bp mRNA linear HUM 14-JUL-2016
DEFINITION Homo sapiens blepharophimosis, epicanthus inversus and ptosis,
candidate 1 (BPESC1) mRNA, complete cds.
ACCESSION AF196865
VERSION AF196865.1
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 3518)
AUTHORS De Baere,E., Fukushima,Y., Small,K., Udar,N., Van Camp,G.,
Verhoeven,K., Palotie,A., De Paepe,A. and Messiaen,L.
TITLE Identification of BPESC1, a novel gene disrupted by a balanced
chromosomal translocation, t(3;4)(q23;p15.2), in a patient with
BPES
JOURNAL Genomics 68 (3), 296-304 (2000)
PUBMED 10995571
REFERENCE 2 (bases 1 to 3518)
AUTHORS De Baere,E. and Messiaen,L.
TITLE Direct Submission
JOURNAL Submitted (20-OCT-1999) Dpt. of Medical Genetics, University
Hospital Ghent/University of Ghent, De Pintelaan 185, Ghent 9000,
Belgium
FEATURES Location/Qualifiers
source 1..3518
/db_xref="H-InvDB:HIT000073682"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q23"
/plasmid="cosmid 11-L 10"
gene 1..3518
/gene="BPESC1"
CDS 304..654
/gene="BPESC1"
/note="putative BPES syndrome breakpoint region protein"
/codon_start=1
/product="blepharophimosis, epicanthus inversus and
ptosis, candidate 1"
/protein_id="AAG23727.1"
/translation="MGGRDQITNLGSEGETHPWGYSSPPYPLHTFFIPFLPSGFGGSG
LGIPSDNEKHDLQDCVEVSRPEGPAPELPSSLCGWNKISSLCGLGFPSRDPKTWDLAM
LLSPWVDFFELQLL"
regulatory 3499..3504
/regulatory_class="polyA_signal_sequence"
/gene="BPESC1"
BASE COUNT 862 a 813 c 839 g 1004 t
ORIGIN
1 aaaggaagaa gaggaacacg ttgctgtgtg ctcgtggcac gtggcctgtt gggtcctttc
61 gcagtccttt gaagcagttg cttttactgt cccctgtttt acagaagagg aaacagccaa
121 ggtgacttaa gggcagagcg ccagcaggta tggagcctga atttaaatgc aggtctgcat
181 actgcaagca cctgggttct ctccacccct cctctggact cccatttgtt ctctgtcagt
241 gactgagaaa gggtgggtgg gactaggaac tcagcttccg gtccatgacc acatccatgg
301 aatatgggag gaagagatca aatcacaaat cttgggagtg agggagagac acatccttgg
361 ggctactcaa gtcccccata tcctttgcat accttcttta tcccttttct acccagtgga
421 tttggaggga gtgggcttgg gataccatca gacaacgaga aacacgattt gcaggactgt
481 gtggaggtat ccaggcctga gggccctgct ccagagctcc cctcctcact ctgtggctgg
541 aacaaaatct cttccttgtg tggccttggc ttccctagca gggatcccaa aacatgggat
601 ctggccatgc tgctcagtcc ttgggttgat ttctttgagc tccagcttct ctgagcatcc
661 cctctgctgt ccccacatcc tgatagcccc tctgggagct ggggcctggc ctttctgccc
721 attctcaaca aacactcttg tctggagaca ggcaggacaa tggagagcta ccttgtcctg
781 ctgctgcccc tgccaccaca gctgcttatg tgtgaccgat ggggttgaga ggggcaagag
841 ttctgtggag agagtggagg gaaagagttt tttttttttt tttttttttt ttgctatgca
901 cagttcctcc cagcaacctt ccctctctga ccaatggggc ctctaggctc tgcccttcac
961 gttggggtct tcccccacct ccggcccttt ggttttgata tggctagtga ccagcactga
1021 ccaccatccc aagctgggaa gagcaattgg tgaagagtgt gtgtactatt tactttcttc
1081 acccttgccc ctttattctc aaggtctttt gattgtgaag caaggcccga ggccttgact
1141 ggtgagatta gcccgggagg tggtggctcc ctcctgctct ctgtggtgaa agccaagcac
1201 actttcctaa aaccagcgtc ggaagctgtg ctgtagcctg taattactga catgaaggtc
1261 cccacacaga gtctggatgg aggctgccct ggaagcagcc ccgggctggg aaagggctga
1321 gtgtcaacag gcctgtgttt gaatccaagt cacctgtgtt ctctgacagg tcactcagtt
1381 cctccggcca cagctgcccc tctgtgagat gacataacac tgcttacctc ttggtgtggc
1441 tatgaggatt gattgggctg atgtgtagaa aatatgtaat gcagggcttg tcctggaggt
1501 gatgttaggt aatggtgagg tggatcttcc ctgtgtggtc cctcccttcg tgtgcccctg
1561 cccagcctct tggcacctcc tgtttactcc ccgagccccc agattctcac ctttgcccag
1621 agccacattc gggcttgtct tcctcttcca tgtccccgca tgcagaatcc tctctttctt
1681 ctgccagggt tcttcctctc caagccctcc tctgaaccag ctatccctct ggaatgcagc
1741 tgaccaaaca aattcccact aatgtaactg gtagtatctt agaggtgaac tctcctgtgg
1801 gcattttatt tgtatcttag aagaattttt gttttaaatc ttatttttcc caactggcat
1861 atagtagggt gctcaataaa ggtgggttgc ctgaataagt gaaagaacct aaggaacaat
1921 gtctaatggt ggaatttcag tcatgtcttc atgctttcag cctctctgca aacatttatt
1981 ttgtgtgcta gatactggag atatgttgct ggataaaaca gccacagtcc ttgccctttg
2041 gaacttccag tatagtgggg acaatcagtt aataagcaaa caaacacatt tctatttata
2101 aatggtgata aaattccttg gctaaaagaa tattgcagag tctatgatac tgtataacag
2161 gggcttctaa ttaaatttag gggatcctga tgccacttag cagtgggatt tcagaggacc
2221 tttcagagga gctaagcatt tatcagctgc cgcttattca ttgccttgat tttcttcaaa
2281 agacaactat aatcattcaa aaattccaag ttgggtccaa aatgtcaaag gactctgcat
2341 gctgctgaaa gcaaatgaat gtggagggtt tcaaacaaga caaaaggcat tcctccctgc
2401 ccaatcccag tgcagtcaag gccaacctag gcagcagcca ccttctcagg aaacaaggcc
2461 ttggagaaat cagtgcctgt gtgaagatgg tgtcggctga aaagaagagc aatggcgtca
2521 agtactaaat gattatcaag ggtcaacttc tgtatctgta tcagctgcaa cacactgtct
2581 ttaatacccc cagcccagga gctcgtgcct tacatgctgg gcccacattc tgccccaagc
2641 agaagctgca gggacctcag tgtccaccct tcctgcctca tgtctcaagg cagcagctcc
2701 tctctggtaa cctgatggtg atgtggccag ggtgccgaga tgggacagca aagatgatgg
2761 gctctgcaca ccaactccag gaaactcatt ctgggccagc tctatgcaaa gggaaaagca
2821 tgttgcattc acctaggcca agaaacagtg ttgtaggtta agggcatgga ctgcttgagt
2881 tcagtgccag ctatgccact taccagctgt gggaccttgg gcaagttgcc tttgtgccta
2941 tgcttccact ttccttttcc ctccaccatg aagatgggtt aagagtctca aggttgtggt
3001 gactgtagat atatgagtgt gcatttgcta tgctttacct gtctggcatc tagcaaacat
3061 tcttcacatg tttgctgtta tcaagattgt tgtatatgtg aatgaaatga tacgatgtct
3121 cagatttgct ttaaaataat agggaggttg gggaagtggg ttggggtaca gacgaaacag
3181 gagtaggtgt gagttgataa ttgttgaagt taagtgatca gtacgtgggt ttattacact
3241 attcttttca catttgcttt gaaactgttc ataaaaattt ccataataaa agttctatat
3301 atatataaat atatacatac atatgagaaa atgatgttta tagcagagct tcactagaca
3361 tggtatgtag catgtagtgc acaagctgat tttaagtgat attcagatgg ccttttaaat
3421 ttaattatta tgtatttaaa atttaattaa ttatagcaag tgatatgaac tgtgataatg
3481 cagaaggttt ccttttaaaa taaagttcag tcaaaaaa
//