LOCUS AF420373 2008 bp mRNA linear HUM 29-JUL-2003
DEFINITION Homo sapiens optineurin isoform 3 (OPTN) mRNA, complete cds.
ACCESSION AF420373
VERSION AF420373.1
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 2008)
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 2008)
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..2008
/db_xref="H-InvDB:HIT000079385"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10p14"
/tissue_type="trabecular meshwork"
gene 1..2008
/gene="OPTN"
CDS 242..1975
/gene="OPTN"
/note="FIP-2; HYPL; NRP; TFIIIA-INTP; RAB8-INTP;
E3-14.7K-INTP"
/codon_start=1
/product="optineurin isoform 3"
/protein_id="AAL76329.1"
/translation="MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQM
KELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSH
ENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI
VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRS
ADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIET
QTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKC
QALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMT
HNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFED
GGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDID
TLQIHVMDCII"
BASE COUNT 656 a 421 c 549 g 382 t
ORIGIN
1 atcccggtcg ggagttctct ccaggcggca cgatgccgag gaaacagtga ccctgagcga
61 agccaagccg ggcggcaggt gtggctttga tagctggtgg tgccacttcc tggccttgga
121 tgagccgtac gcctctgtaa acccaacttc ctcacctttg aaacagctgc ctggttcagc
181 attaatgaag attagtcagt gacaggcctg gtgtgctgag tccgcacata gaacttctgc
241 aatgtcccat caacctctca gctgcctcac tgaaaaggag gacagcccca gtgaaagcac
301 aggaaatgga cccccccacc tggcccaccc aaacctggac acgtttaccc cggaggagct
361 gctgcagcag atgaaagagc tcctgaccga gaaccaccag ctgaaagaag ccatgaagct
421 aaataatcaa gccatgaaag ggagatttga ggagctttcg gcctggacag agaaacagaa
481 ggaagaacgc cagttttttg agatacagag caaagaagca aaagagcgtc taatggcctt
541 gagtcatgag aatgagaaat tgaaggaaga gcttggaaaa ctaaaaggga aatcagaaag
601 gtcatctgag gaccccactg atgactccag gcttcccagg gccgaagcgg agcaggaaaa
661 ggaccagctc aggacccagg tggtgaggct acaagcagag aaggcagacc tgttgggcat
721 cgtgtctgaa ctgcagctca agctgaactc cagcggctcc tcagaagatt cctttgttga
781 aattaggatg gctgaaggag aagcagaagg gtcagtaaaa gaaatcaagc atagtcctgg
841 gcccacgaga acagtctcca ctggcacggc attgtctaaa tataggagca gatctgcaga
901 tggggccaag aattacttcg aacatgagga gttaactgtg agccagctcc tgctgtgcct
961 aagggaaggg aatcagaagg tggagagact tgaagttgca ctcaaggagg ccaaagaaag
1021 agtttcagat tttgaaaaga aaacaagtaa tcgttctgag attgaaaccc agacagaggg
1081 gagcacagag aaagagaatg atgaagagaa aggcccggag actgttggaa gcgaagtgga
1141 agcactgaac ctccaggtga catctctgtt taaggagctt caagaggctc atacaaaact
1201 cagcgaagct gagctaatga agaagagact tcaagaaaag tgtcaggccc ttgaaaggaa
1261 aaattctgca attccatcag agttgaatga aaagcaagag cttgtttata ctaacaaaaa
1321 gttagagcta caagtggaaa gcatgctatc agaaatcaaa atggaacagg ctaaaacaga
1381 ggatgaaaag tccaaattaa ctgtgctaca gatgacacac aacaagcttc ttcaagaaca
1441 taataatgca ttgaaaacaa ttgaggaact aacaagaaaa gagtcagaaa aagtggacag
1501 ggcagtgctg aaggaactga gtgaaaaact ggaactggca gagaaggctc tggcttccaa
1561 acagctgcaa atggatgaaa tgaagcaaac cattgccaag caggaagagg acctggaaac
1621 catgaccatc ctcagggctc agatggaagt ttactgttct gattttcatg ctgaaagagc
1681 agcgagagag aaaattcatg aggaaaagga gcaactggca ttgcagctgg cagttctgct
1741 gaaagagaat gatgctttcg aagacggagg caggcagtcc ttgatggaga tgcagagtcg
1801 tcatggggcg agaacaagtg actctgacca gcaggcttac cttgttcaaa gaggagctga
1861 ggacagggac tggcggcaac agcggaatat tccgattcat tcctgcccca agtgtggaga
1921 ggttctgcct gacatagaca cgttacagat tcacgtgatg gattgcatca tttaagtgtt
1981 gatgtatcac ctccccaaaa ctgttggt
//