LOCUS HSU84404 3186 bp mRNA linear HUM 11-MAR-1997
DEFINITION Human E6-associated protein E6-AP/ubiquitin-protein ligase (UBE3A)
mRNA, alternatively spliced, complete cds.
ACCESSION U84404
VERSION U84404.1
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 3186)
AUTHORS Kishino,T., Lalande,M. and Wagstaff,J.
TITLE UBE3A/E6-AP mutations cause Angelman syndrome
JOURNAL Nat. Genet. 15 (1), 70-73 (1997)
PUBMED 8988171
REFERENCE 2 (bases 1 to 3186)
AUTHORS Kishino,T., Lalande,M. and Wagstaff,J.
TITLE Direct Submission
JOURNAL Submitted (08-JAN-1997) Genetics, Children's Hospital, 300 Longwood
Avenue, Boston, MA 02115, USA
FEATURES Location/Qualifiers
source 1..3186
/db_xref="H-InvDB:HIT000221864"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q11-13"
/clone="c7-3"
/tissue_type="fetal brain"
/clone_lib="Stratagene lambda ZAP II library"
gene 1..3186
/gene="UBE3A"
5'UTR 1..586
/gene="UBE3A"
exon 1..53
/gene="UBE3A"
/number=1
exon 54..117
/gene="UBE3A"
/number=3
exon 118..237
/gene="UBE3A"
/number=4
exon 238..350
/gene="UBE3A"
/number=5
exon 351..546
/gene="UBE3A"
/number=6
exon 547..588
/gene="UBE3A"
/number=7
CDS 587..3145
/gene="UBE3A"
/note="exon 2 is alternatively spliced; alternative
splicing in the 5' end can lead to different coding
regions for different splice forms"
/codon_start=1
/product="E6-associated protein E6-AP/ubiquitin-protein
ligase"
/protein_id="AAB49301.1"
/translation="MKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNA
AAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARIDFKDV
TYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKSLQA
KDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQKLGPDDVSVDIDAIRR
VYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSP
EYLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFN
SRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGE
ERRNKKGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETEN
KFSFMTCPFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDH
IIDDALVRLEMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGM
FTYDESTKLFWFNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGT
FRDLGDSHPVLYQSLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENGDKIPI
TNENRKEFVNLYSDYILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSR
NLDFQALEETTEYDGGYTRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLG
KLKMIIAKNGPDTERLPTSHTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML"
exon 589..887
/gene="UBE3A"
/number=8
exon 888..2134
/gene="UBE3A"
/number=9
exon 2135..2279
/gene="UBE3A"
/number=10
exon 2280..2485
/gene="UBE3A"
/number=11
exon 2486..2650
/gene="UBE3A"
/number=12
exon 2651..2806
/gene="UBE3A"
/number=13
exon 2807..2880
/gene="UBE3A"
/number=14
exon 2881..3024
/gene="UBE3A"
/number=15
exon 3025..3186
/gene="UBE3A"
/number=16
3'UTR 3146..3186
/gene="UBE3A"
BASE COUNT 1045 a 571 c 711 g 859 t
ORIGIN
1 cgactacgac cagtgaggcg gccgccgcag cccaggcgcg ggggcgacga caggttaaaa
61 atctgtaaga gcctgatttt agaattcacc agctcctcag aagtttggcg aaatatgagt
121 tattaagcct acgctcagat caaggtagca gctagactgg tgtgacaacc tgtttttaat
181 cagtgactca aagctgtgat caccctgatg tcaccgaatg gccacagctt gtaaaagaga
241 gttacagtgg aggtaaaagg agtggcttgc aggatggaga agctgcacca gtgttattgg
301 aagtgagcca ccatttgaat ttgctagctc atgctgcagt attcagatta tgccagcagg
361 tttatttttt gttttgcaag ccagctctgc ctccttacag tatgacatct gatgctggag
421 ggtcgcactt tcaaaaatga gtcagctggt acatggggtt atcatcaatt tttagctctt
481 ctgtctggga gatacaagtt tggaagcaat cttggggtac ttacccacaa ggctggtgga
541 gaccagatca ggagaacctc agtctgacga cattgaagct agccgaatga agcgagcagc
601 tgcaaagcat ctaatagaac gctactacca ccagttaact gagggctgtg gaaatgaagc
661 ctgcacgaat gagttttgtg cttcctgtcc aacttttctt cgtatggata ataatgcagc
721 agctattaaa gccctcgagc tttataagat taatgcaaaa ctctgtgatc ctcatccctc
781 caagaaagga gcaagctcag cttaccttga gaactcgaaa ggtgccccca acaactcctg
841 ctctgagata aaaatgaaca agaaaggcgc tagaattgat tttaaagatg tgacttactt
901 aacagaagag aaggtatatg aaattcttga attatgtaga gaaagagagg attattcccc
961 tttaatccgt gttattggaa gagttttttc tagtgctgag gcattggtac agagcttccg
1021 gaaagttaaa caacacacca aggaagaact gaaatctctt caagcaaaag atgaagacaa
1081 agatgaagat gaaaaggaaa aagctgcatg ttctgctgct gctatggaag aagactcaga
1141 agcatcttcc tcaaggatag gtgatagctc acagggagac aacaatttgc aaaaattagg
1201 ccctgatgat gtgtctgtgg atattgatgc cattagaagg gtctacacca gattgctctc
1261 taatgaaaaa attgaaactg cctttctcaa tgcacttgta tatttgtcac ctaacgtgga
1321 atgtgacttg acgtatcaca atgtatactc tcgagatcct aattatctga atttgttcat
1381 tatcgtaatg gagaatagaa atctccacag tcctgaatat ctggaaatgg ctttgccatt
1441 attttgcaaa gcgatgagca agctacccct tgcagcccaa ggaaaactga tcagactgtg
1501 gtctaaatac aatgcagacc agattcggag aatgatggag acatttcagc aacttattac
1561 ttataaagtc ataagcaatg aatttaacag tcgaaatcta gtgaatgatg atgatgccat
1621 tgttgctgct tcgaagtgct tgaaaatggt ttactatgca aatgtagtgg gaggggaagt
1681 ggacacaaat cacaatgaag aagatgatga agagcccatc cctgagtcca gcgagctgac
1741 acttcaggaa cttttgggag aagaaagaag aaacaagaaa ggtcctcgag tggaccccct
1801 ggaaactgaa cttggtgtta aaaccctgga ttgtcgaaaa ccacttatcc cttttgaaga
1861 gtttattaat gaaccactga atgaggttct agaaatggat aaagattata cttttttcaa
1921 agtagaaaca gagaacaaat tctcttttat gacatgtccc tttatattga atgctgtcac
1981 aaagaatttg ggattatatt atgacaatag aattcgcatg tacagtgaac gaagaatcac
2041 tgttctctac agcttagttc aaggacagca gttgaatcca tatttgagac tcaaagttag
2101 acgtgaccat atcatagatg atgcacttgt ccggctagag atgatcgcta tggaaaatcc
2161 tgcagacttg aagaagcagt tgtatgtgga atttgaagga gaacaaggag ttgatgaggg
2221 aggtgtttcc aaagaatttt ttcagctggt tgtggaggaa atcttcaatc cagatattgg
2281 tatgttcaca tacgatgaat ctacaaaatt gttttggttt aatccatctt cttttgaaac
2341 tgagggtcag tttactctga ttggcatagt actgggtctg gctatttaca ataactgtat
2401 actggatgta cattttccca tggttgtcta caggaagcta atggggaaaa aaggaacttt
2461 tcgtgacttg ggagactctc acccagttct atatcagagt ttaaaagatt tattggagta
2521 tgaagggaat gtggaagatg acatgatgat cactttccag atatcacaga cagatctttt
2581 tggtaaccca atgatgtatg atctaaagga aaatggtgat aaaattccaa ttacaaatga
2641 aaacaggaag gaatttgtca atctttattc tgactacatt ctcaataaat cagtagaaaa
2701 acagttcaag gcttttcgga gaggttttca tatggtgacc aatgaatctc ccttaaagta
2761 cttattcaga ccagaagaaa ttgaattgct tatatgtgga agccggaatc tagatttcca
2821 agcactagaa gaaactacag aatatgacgg tggctatacc agggactctg ttctgattag
2881 ggagttctgg gaaatcgttc attcatttac agatgaacag aaaagactct tcttgcagtt
2941 tacaacgggc acagacagag cacctgtggg aggactagga aaattaaaga tgattatagc
3001 caaaaatggc ccagacacag aaaggttacc tacatctcat acttgcttta atgtgctttt
3061 acttccggaa tactcaagca aagaaaaact taaagagaga ttgttgaagg ccatcacgta
3121 tgccaaagga tttggcatgc tgtaaaacaa aacaaaacaa aataaaacaa aaaaaaaaaa
3181 aaaaaa
//