LOCUS X95263 3201 bp mRNA linear HUM 07-OCT-2008
DEFINITION H.sapiens mRNA for PWP2 protein.
ACCESSION X95263
VERSION X95263.1
KEYWORDS PWP2 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 Lalioti M.D., Chen H., Rossier C., Reid J.D., Antonarakis S.E.
TITLE Cloning of the cDNA for human PWP2 that encodes a protein with WD
repeats, maps in 21q22.3, and is a candidate for progressive
myoclonus epilepsy (EPM1)
JOURNAL Unpublished.
REFERENCE 2 (bases 1 to 3201)
AUTHORS Antonarakis S.E.
JOURNAL Submitted (18-JAN-1996) to the INSDC. S.E. Antonarakis, Division of
Medical Genetics, University of Geneva School of Medicine, Centre
Medical Universitaire, Rue Michel-Servet 1, CH-1211 Geneva,
SWITZERLAND
REFERENCE 3 (bases 1 to 3201)
AUTHORS Lalioti M.D., Chen H., Rossier C., Reid J.D., Antonarakis S.E.
TITLE Cloning the cDNA of human PWP2, which encodes a protein with WD
repeats and maps to 21q22.3
JOURNAL Genomics 35(2), 321-327(1996).
PUBMED 8661145
FEATURES Location/Qualifiers
source 1..3201
/db_xref="H-InvDB:HIT000324898"
/organism="Homo sapiens"
/chromosome="21"
/map="q22.3"
/mol_type="mRNA"
/clone_lib="infant brain and fetal kidney"
/db_xref="taxon:9606"
CDS 32..2791
/gene="PWP2"
/db_xref="GOA:Q15269"
/db_xref="H-InvDB:HIT000324898.14"
/db_xref="HGNC:HGNC:9711"
/db_xref="InterPro:IPR001680"
/db_xref="InterPro:IPR007148"
/db_xref="InterPro:IPR011047"
/db_xref="InterPro:IPR015943"
/db_xref="InterPro:IPR017986"
/db_xref="InterPro:IPR019775"
/db_xref="InterPro:IPR020472"
/db_xref="InterPro:IPR027145"
/db_xref="UniProtKB/Swiss-Prot:Q15269"
/protein_id="CAA64560.1"
/translation="MKFAYRFSNLLGTVYRRGNLNFTCNGNSVISPVGNRVTVFDLKN
NKSDTLPLATRYNVKCVGLSPDGRLAIIVDEGGDALLVSLVCRSVLHHFHFKGSVHSV
SFSPDGRKFVVTKGNIAQMYHAPGKKREFNAFVLDKTYFGPYDETTCIDWTDDSRCFV
VGSKDMSTWVFGAERWDNLIYYALGGHKDAIVACFFESNSLDLYSLSQDGVLCMWQCD
TPPEGLRLKPPAGWKADLLQREEEEEEEEDQEGDRETTIRGKATPAEEEKTGKVKYSR
LAKYFFNKEGDFNNLTAAAFHKKSHLLVTGFASGIFHLHELPEFNLIHSLSISDQSIA
SVAINSSGDWIAFGCSGLGQLLVWEWQSESYVLKQQGHFNSMVALAYSPDGQYIVTGG
DDGKVKVWNTLSGFCFVTFTEHSSGVTGVTFTATGYVVVTSSMDGTVRAFDLHRYRNF
RTFTSPRPTQFSCVAVDASGEIVSAGAQDSFEIFVWSMQTGRLLDVLSGHEGPISGLC
FNPMKSVLASASWDKTVRLWDMFDSWRTKETLALTSDALAVTFRPDGAELAVATLNSQ
ITFWDPENAVQTGSIEGRHDLKTGRKELDKITAKHAAKGKAFTALCYSADGHSILAGG
MSKFVCIYHVREQILMKRFEISCNLSLDAMEEFLNRRKMTEFGNLALIDQDAGQEDGV
AIPLPGVRKGDMSSRHFKPEIRVTSLRFSPTGRCWAGTTTEGLLIYSLDTRVLFDPFE
LDTSVTPGRVREALRQQDFTRAILMALRLNESKLVQEALEAVPRGEIEVVTSSLPELY
VEKVLEFLASSFEVSRHLEFYLLWTHKLLMLHGQKLKSRAGTLLPVIQFLQKSIQRHL
DDLSKLCSWNHYNMQYALAVSKQRGTKRSLDPLGSEEEAEASEDDSLHLLGGGGRDSE
EEMLA"
variation 1234
/replace="c"
/note="polymorphism"
polyA_site 3132
polyA_site 3153
polyA_site 3200
BASE COUNT 716 a 853 c 947 g 685 t
ORIGIN
1 ggatccgcgc ggcacacgtg cgacggccgt gatgaagttc gcttaccggt tttcaaattt
61 gctgggtacg gtgtaccggc gtgggaacct aaattttacc tgcaatggaa attcagttat
121 cagtcccgtg ggcaatagag tcactgtatt tgaccttaaa aacaacaaat ctgacacgct
181 gcccctggcc actcggtaca acgtcaagtg cgtggggctg tccccggatg gccgcctcgc
241 tatcatcgtc gatgaagggg gcgatgcgct gctggtcagc ctggtctgca ggtctgtgct
301 gcaccacttc cacttcaagg gctctgtgca cagtgtgtcc ttctcccctg atggcaggaa
361 gtttgttgtc acaaagggta acattgccca gatgtatcat gcccctggga agaagcggga
421 gttcaacgcc ttcgttctgg acaagaccta ttttgggccc tacgatgaga ccacctgcat
481 cgactggacg gatgactcca ggtgctttgt ggttgggagc aaagacatgt ccacctgggt
541 gttcggagcc gagcgctggg acaacctcat ctactatgca ctggggggac ataaggatgc
601 catcgtggcc tgcttctttg aatccaacag cctggacctg tactcactca gccaggacgg
661 agtgctgtgc atgtggcagt gtgacacgcc ccccgagggc ttgcggctga agccccctgc
721 gggctggaaa gcagacctgt tgcagcggga ggaggaagag gaggaggagg aggaccagga
781 gggcgacaga gagaccacca tccggggaaa agccactccg gccgaggagg agaagacagg
841 aaaagtgaag tactcacggc tggccaagta cttcttcaat aaagaagggg attttaacaa
901 cctgacagct gcagcatttc ataagaagtc tcacctcttg gtcactggct ttgcttctgg
961 aatcttccat cttcatgagc tgccagagtt taacctcatc cactccctga gcatctcaga
1021 tcagagcatc gcctcagtgg ccatcaatag ctcgggggac tggattgctt ttggctgttc
1081 aggcctgggc cagctgctgg tgtgggagtg gcagagtgag tcctacgtgc tcaagcagca
1141 gggccacttc aacagcatgg tggccctggc ctactcgccc gacggacagt acatcgtgac
1201 tggcggggac gacggcaagg tcaaggtgtg gaataccctc agcggcttct gcttcgtcac
1261 ttttacggag cactccagcg gggtgaccgg tgtgaccttt actgccaccg gctacgttgt
1321 ggtgacctca tccatggacg ggaccgtgcg agcctttgac cttcacaggt accgaaactt
1381 ccgcaccttc acctctccac gccccaccca gttctcctgt gtggcggtgg atgcgagcgg
1441 tgagatcgtc tctgcagggg cgcaggactc ctttgagatt ttcgtgtggt ccatgcagac
1501 aggcaggctc cttgatgttt tgtctggaca cgaagggccc atcagtggtc tgtgttttaa
1561 cccaatgaag tccgtcctgg ccagtgcctc ctgggacaag acggtgcgcc tatgggacat
1621 gtttgacagc tggaggacca aggagacgct ggccctgacc tctgatgctc tggctgtgac
1681 ttttcgccct gatggtgcgg agctggctgt ggccacactg aactcacaga tcaccttctg
1741 ggaccctgag aacgcggtgc agacgggctc cattgagggc aggcatgacc tcaagactgg
1801 caggaaggag ctggacaaga ttacagccaa gcacgcggcc aaggggaagg ccttcaccgc
1861 cctgtgctac tctgcagacg gccacagcat cctggcggga ggcatgtcca agttcgtgtg
1921 catctaccac gtccgtgagc agattctcat gaagaggttc gagatctctt gcaacctgtc
1981 tctggacgcc atggaggaat ttttgaaccg aagaaaaatg acagagtttg gcaacctggc
2041 actaattgat caggatgctg ggcaggagga tggagtcgcg ataccactgc caggcgtcag
2101 gaaaggtgac atgagttctc ggcacttcaa acctgagatc agggtgacct cactccgctt
2161 ctctcccact gggcgctgct gggcgggcac caccacggag ggactcctca tctactccct
2221 ggacacccgc gtgctctttg acccgtttga gctggacacc agcgtcaccc ccgggagggt
2281 gcgcgaggca ctgcgccagc aggacttcac cagggccatc ctcatggccc tccggctcaa
2341 cgagagcaaa ctggtgcagg aggccctgga ggcggtgccc aggggcgaga ttgaagtggt
2401 cacctcctcc cttcctgaac tgtatgtgga gaaagtgctg gagtttttag cttcctcctt
2461 tgaagtgtct cgccacctgg aattctacct cctctggact cacaaactgc tcatgttgca
2521 cggacagaag ctgaagtcca gagccgggac gctgctgcct gtcattcagt tcctccagaa
2581 gagcatccag cggcacctgg acgacctgtc gaaactctgt agctggaacc actataacat
2641 gcagtacgca ctagcagttt ccaagcagcg gggcacaaaa cgctccctag acccgctggg
2701 aagtgaggag gaggcagaag catctgaaga tgacagcctg catctgcttg gaggaggagg
2761 cagagactca gaagaagaga tgctggccta gagccagccg gttgcagcgt tggattgtgc
2821 cggctaagac ctgccaggga gatgggaccc ttgtgccacc tgggccagca aagaggaggg
2881 gtccagagaa cagctgaaat actgtcacta gtggtagtga cttgcttttc ctgtgcacac
2941 atgtagccca tcaggacagc gagccgacgg gtcacgccag gggccggcac gcactggcac
3001 ctggccccag gagcgggccc gtgtgaacgg tgatgaatgt tgaaaatgcg tctcagagag
3061 gtattcacat gaactttgta tgagacttat ttatattttt aacataaagg tttgataaag
3121 aacttaggga ttaaaaaaaa gatggagttt tctaacgtga ggatgaagtc tacacttcag
3181 attaaaaagg gttatgttgt a
//