LOCUS AF420372 1856 bp mRNA linear HUM 29-JUL-2003
DEFINITION Homo sapiens optineurin isoform 2 (OPTN) mRNA, complete cds.
ACCESSION AF420372
VERSION AF420372.1
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 1856)
AUTHORS Rezaie,T., Child,A., Hitchings,R., Brice,G., Miller,L.,
Coca-Prados,M., Heon,E., Krupin,T., Ritch,R., Kreutzer,D.,
Crick,R.P. and Sarfarazi,M.
TITLE Adult-onset primary open-angle glaucoma caused by mutations in
optineurin
JOURNAL Science 295 (5557), 1077-1079 (2002)
PUBMED 11834836
REFERENCE 2 (bases 1 to 1856)
AUTHORS Sarfarazi,M. and Rezaie,T.
TITLE Direct Submission
JOURNAL Submitted (18-SEP-2001) Molecular Ophthalmic Genetics Laboratory,
Surgical Research Center, Department of Surgery, University of
Connecticut Health Center, 263 Farmington Ave, Farmington, CT
06030-1110, USA
FEATURES Location/Qualifiers
source 1..1856
/db_xref="H-InvDB:HIT000079384"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10p14"
/tissue_type="trabecular meshwork"
gene 1..1856
/gene="OPTN"
CDS 90..1823
/gene="OPTN"
/note="FIP-2; HYPL; NRP; TFIIIA-INTP; RAB8-INTP;
E3-14.7K-INTP"
/codon_start=1
/product="optineurin isoform 2"
/protein_id="AAL76328.1"
/translation="MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQM
KELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSH
ENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI
VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRS
ADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIET
QTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKC
QALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMT
HNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFED
GGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDID
TLQIHVMDCII"
BASE COUNT 625 a 382 c 509 g 340 t
ORIGIN
1 atcccggtcg ggagttctct ccaggcggca cgatgccgag gaaacagtga ccctgagcga
61 agccaagccg ggcggcagga acttctgcaa tgtcccatca acctctcagc tgcctcactg
121 aaaaggagga cagccccagt gaaagcacag gaaatggacc cccccacctg gcccacccaa
181 acctggacac gtttaccccg gaggagctgc tgcagcagat gaaagagctc ctgaccgaga
241 accaccagct gaaagaagcc atgaagctaa ataatcaagc catgaaaggg agatttgagg
301 agctttcggc ctggacagag aaacagaagg aagaacgcca gttttttgag atacagagca
361 aagaagcaaa agagcgtcta atggccttga gtcatgagaa tgagaaattg aaggaagagc
421 ttggaaaact aaaagggaaa tcagaaaggt catctgagga ccccactgat gactccaggc
481 ttcccagggc cgaagcggag caggaaaagg accagctcag gacccaggtg gtgaggctac
541 aagcagagaa ggcagacctg ttgggcatcg tgtctgaact gcagctcaag ctgaactcca
601 gcggctcctc agaagattcc tttgttgaaa ttaggatggc tgaaggagaa gcagaagggt
661 cagtaaaaga aatcaagcat agtcctgggc ccacgagaac agtctccact ggcacggcat
721 tgtctaaata taggagcaga tctgcagatg gggccaagaa ttacttcgaa catgaggagt
781 taactgtgag ccagctcctg ctgtgcctaa gggaagggaa tcagaaggtg gagagacttg
841 aagttgcact caaggaggcc aaagaaagag tttcagattt tgaaaagaaa acaagtaatc
901 gttctgagat tgaaacccag acagagggga gcacagagaa agagaatgat gaagagaaag
961 gcccggagac tgttggaagc gaagtggaag cactgaacct ccaggtgaca tctctgttta
1021 aggagcttca agaggctcat acaaaactca gcgaagctga gctaatgaag aagagacttc
1081 aagaaaagtg tcaggccctt gaaaggaaaa attctgcaat tccatcagag ttgaatgaaa
1141 agcaagagct tgtttatact aacaaaaagt tagagctaca agtggaaagc atgctatcag
1201 aaatcaaaat ggaacaggct aaaacagagg atgaaaagtc caaattaact gtgctacaga
1261 tgacacacaa caagcttctt caagaacata ataatgcatt gaaaacaatt gaggaactaa
1321 caagaaaaga gtcagaaaaa gtggacaggg cagtgctgaa ggaactgagt gaaaaactgg
1381 aactggcaga gaaggctctg gcttccaaac agctgcaaat ggatgaaatg aagcaaacca
1441 ttgccaagca ggaagaggac ctggaaacca tgaccatcct cagggctcag atggaagttt
1501 actgttctga ttttcatgct gaaagagcag cgagagagaa aattcatgag gaaaaggagc
1561 aactggcatt gcagctggca gttctgctga aagagaatga tgctttcgaa gacggaggca
1621 ggcagtcctt gatggagatg cagagtcgtc atggggcgag aacaagtgac tctgaccagc
1681 aggcttacct tgttcaaaga ggagctgagg acagggactg gcggcaacag cggaatattc
1741 cgattcattc ctgccccaag tgtggagagg ttctgcctga catagacacg ttacagattc
1801 acgtgatgga ttgcatcatt taagtgttga tgtatcacct ccccaaaact gttggt
//