LOCUS AF420371 2077 bp mRNA linear HUM 29-JUL-2003
DEFINITION Homo sapiens optineurin isoform 1 (OPTN) mRNA, complete cds.
ACCESSION AF420371
VERSION AF420371.1
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 2077)
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 2077)
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..2077
/db_xref="H-InvDB:HIT000079383"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10p14"
/tissue_type="trabecular meshwork"
gene <1..>2077
/gene="OPTN"
5'UTR <1..310
/gene="OPTN"
CDS 311..2044
/gene="OPTN"
/note="FIP-2; HYPL; NRP; TFIIIA-INTP; RAB8-INTP;
E3-14.7K-INTP"
/codon_start=1
/product="optineurin isoform 1"
/protein_id="AAL76327.1"
/translation="MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQM
KELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSH
ENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI
VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRS
ADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIET
QTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKC
QALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMT
HNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFED
GGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDID
TLQIHVMDCII"
3'UTR 2045..>2077
/gene="OPTN"
BASE COUNT 682 a 431 c 566 g 398 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 gaagaatcaa
241 aaatgtccaa aatgtaactg gagagaaagt gggcaacttt tggagtgact tttccacagg
301 aacttctgca atgtcccatc aacctctcag ctgcctcact gaaaaggagg acagccccag
361 tgaaagcaca ggaaatggac ccccccacct ggcccaccca aacctggaca cgtttacccc
421 ggaggagctg ctgcagcaga tgaaagagct cctgaccgag aaccaccagc tgaaagaagc
481 catgaagcta aataatcaag ccatgaaagg gagatttgag gagctttcgg cctggacaga
541 gaaacagaag gaagaacgcc agttttttga gatacagagc aaagaagcaa aagagcgtct
601 aatggccttg agtcatgaga atgagaaatt gaaggaagag cttggaaaac taaaagggaa
661 atcagaaagg tcatctgagg accccactga tgactccagg cttcccaggg ccgaagcgga
721 gcaggaaaag gaccagctca ggacccaggt ggtgaggcta caagcagaga aggcagacct
781 gttgggcatc gtgtctgaac tgcagctcaa gctgaactcc agcggctcct cagaagattc
841 ctttgttgaa attaggatgg ctgaaggaga agcagaaggg tcagtaaaag aaatcaagca
901 tagtcctggg cccacgagaa cagtctccac tggcacggca ttgtctaaat ataggagcag
961 atctgcagat ggggccaaga attacttcga acatgaggag ttaactgtga gccagctcct
1021 gctgtgccta agggaaggga atcagaaggt ggagagactt gaagttgcac tcaaggaggc
1081 caaagaaaga gtttcagatt ttgaaaagaa aacaagtaat cgttctgaga ttgaaaccca
1141 gacagagggg agcacagaga aagagaatga tgaagagaaa ggcccggaga ctgttggaag
1201 cgaagtggaa gcactgaacc tccaggtgac atctctgttt aaggagcttc aagaggctca
1261 tacaaaactc agcgaagctg agctaatgaa gaagagactt caagaaaagt gtcaggccct
1321 tgaaaggaaa aattctgcaa ttccatcaga gttgaatgaa aagcaagagc ttgtttatac
1381 taacaaaaag ttagagctac aagtggaaag catgctatca gaaatcaaaa tggaacaggc
1441 taaaacagag gatgaaaagt ccaaattaac tgtgctacag atgacacaca acaagcttct
1501 tcaagaacat aataatgcat tgaaaacaat tgaggaacta acaagaaaag agtcagaaaa
1561 agtggacagg gcagtgctga aggaactgag tgaaaaactg gaactggcag agaaggctct
1621 ggcttccaaa cagctgcaaa tggatgaaat gaagcaaacc attgccaagc aggaagagga
1681 cctggaaacc atgaccatcc tcagggctca gatggaagtt tactgttctg attttcatgc
1741 tgaaagagca gcgagagaga aaattcatga ggaaaaggag caactggcat tgcagctggc
1801 agttctgctg aaagagaatg atgctttcga agacggaggc aggcagtcct tgatggagat
1861 gcagagtcgt catggggcga gaacaagtga ctctgaccag caggcttacc ttgttcaaag
1921 aggagctgag gacagggact ggcggcaaca gcggaatatt ccgattcatt cctgccccaa
1981 gtgtggagag gttctgcctg acatagacac gttacagatt cacgtgatgg attgcatcat
2041 ttaagtgttg atgtatcacc tccccaaaac tgttggt
//