LOCUS HSU18991 2672 bp mRNA linear HUM 08-MAY-1996
DEFINITION Human retinal pigment epithelium-specific 61 kDa protein (RPE65)
mRNA, complete cds.
ACCESSION U18991
VERSION U18991.1
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 2672)
AUTHORS Nicoletti,A., Wong,D.J., Kawase,K., Gibson,L.H., Yang-Feng,T.L.,
Richards,J.E. and Thompson,D.A.
TITLE Molecular characterization of the human gene encoding an abundant
61 kDa protein specific to the retinal pigment epithelium
JOURNAL Hum. Mol. Genet. 4 (4), 641-649 (1995)
PUBMED 7633413
REFERENCE 2 (bases 1 to 2672)
AUTHORS Thompson,D.A.
TITLE Direct Submission
JOURNAL Submitted (21-DEC-1994) Debra A. Thompson, Department of
Ophthalmology, University of Michigan, 1000 Wall St., Ann Arbor, MI
48105, USA
FEATURES Location/Qualifiers
source 1..2672
/db_xref="H-InvDB:HIT000218492"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p31"
/clone="hE61.g1, hE61.g2"
/tissue_type="retinal pigment epithelium"
gene 1..2672
/gene="RPE65"
5'UTR <1..54
/gene="RPE65"
CDS 55..1656
/gene="RPE65"
/codon_start=1
/product="retinal pigment epithelium-specific 61 kDa
protein"
/protein_id="AAA99012.1"
/translation="MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLR
CGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITE
FGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETL
ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKED
PISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYM
DCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGF
EFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTAT
AILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKL
NVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAK
DLSEVARAEVEINIPVTFHGLFKKS"
3'UTR 1657..>2672
/gene="RPE65"
variation 2382..2387
/gene="RPE65"
/note="the sequence is CAGAGC in 14/44 chromosomes scored
and is CAGC in 30/44 chromosomes scored"
/frequency="0.36"
/replace="cagc"
BASE COUNT 829 a 510 c 499 g 834 t
ORIGIN
1 tccttcttca ttctgcagtt ggtgccagaa ctctggatcc tgaactggaa gaaaatgtct
61 atccaggttg agcatcctgc tggtggttac aagaaactgt ttgaaactgt ggaggaactg
121 tcctcgccgc tcacagctca tgtaacaggc aggatccccc tctggctcac cggcagtctc
181 cttcgatgtg ggccaggact ctttgaagtt ggatctgagc cattttacca cctgtttgat
241 gggcaagccc tcctgcacaa gtttgacttt aaagaaggac atgtcacata ccacagaagg
301 ttcatccgca ctgatgctta cgtacgggca atgactgaga aaaggatcgt cataacagaa
361 tttggcacct gtgctttccc agatccctgc aagaatatat tttccaggtt tttttcttac
421 tttcgaggag tagaggttac tgacaatgcc cttgttaatg tctacccagt gggggaagat
481 tactacgctt gcacagagac caactttatt acaaagatta atccagagac cttggagaca
541 attaagcagg ttgatctttg caactatgtc tctgtcaatg gggccactgc tcacccccac
601 attgaaaatg atggaaccgt ttacaatatt ggtaattgct ttggaaaaaa tttttcaatt
661 gcctacaaca ttgtaaagat cccaccactg caagcagaca aggaagatcc aataagcaag
721 tcagagatcg ttgtacaatt cccctgcagt gaccgattca agccatctta cgttcatagt
781 tttggtctga ctcccaacta tatcgttttt gtggagacac cagtcaaaat taacctgttc
841 aagttccttt cttcatggag tctttgggga gccaactaca tggattgttt tgagtccaat
901 gaaaccatgg gggtttggct tcatattgct gacaaaaaaa ggaaaaagta cctcaataat
961 aaatacagaa cttctccttt caacctcttc catcacatca acacctatga agacaatggg
1021 tttctgattg tggatctctg ctgctggaaa ggatttgagt ttgtttataa ttacttatat
1081 ttagccaatt tacgtgagaa ctgggaagag gtgaaaaaaa atgccagaaa ggctccccaa
1141 cctgaagtta ggagatatgt acttcctttg aatattgaca aggctgacac aggcaagaat
1201 ttagtcacgc tccccaatac aactgccact gcaattctgt gcagtgacga gactatctgg
1261 ctggagcctg aagttctctt ttcagggcct cgtcaagcat ttgagtttcc tcaaatcaat
1321 taccagaagt attgtgggaa accttacaca tatgcgtatg gacttggctt gaatcacttt
1381 gttccagata ggctctgtaa gctgaatgtc aaaactaaag aaacttgggt ttggcaagag
1441 cctgattcat acccatcaga acccatcttt gtttctcacc cagatgcctt ggaagaagat
1501 gatggtgtag ttctgagtgt ggtggtgagc ccaggagcag gacaaaagcc tgcttatctc
1561 ctgattctga atgccaagga cttaagtgaa gttgcccggg ctgaagtgga gattaacatc
1621 cctgtcacct ttcatggact gttcaaaaaa tcttgagcat actccagcaa gatatgtttt
1681 tggtagcaaa actgagaaaa tcagcttcag gtctgcaatc aaattctgtt caattttagc
1741 ctgctatatg tcatggtttt aacttgcaga tgcgcacaat tttgcaatgt tttacagaaa
1801 gcactgagtt gagcaagcaa ttcctttatt taaaaaaaaa agtacgtatt tagataatca
1861 tacttcctct gtgagacagg ccataactga aaaactctta aatatttagc aatcaaatag
1921 gaaatgaatg tggacttact aaatggcttt taattcctat tataagagca tattttaggt
1981 acctatctgc tccaattata tttttaacat ttaaaaacca aagtcctcta cacttgattt
2041 atattatatg tggctttgct gagtcaagga agtatcatgc aataaggctt aattactaaa
2101 tgtcaaacca aactttttct caaaccaggg actatcatct aagattaatt acagtaatta
2161 ttttgcgtat acgtaactgc tcaaagatta tgaatcttat gaatgttaac ctttccgttt
2221 attacaagca agtactatta tttctgattt tataataaga aaatctatgt ttaatcaact
2281 gaggcctctc aaccaaataa catctcagag attaagttat atattaaaag cttatgtaac
2341 ataaaagcaa gtacatatag tagtgactat atttaaaaaa acagagcata aaatgcttaa
2401 aaatgtaata tttactaaaa tcagattatg ggataatgtt gcaggattat actttattgc
2461 atcttttttg tttaattgta tttaagcatt gtgcaatcac ttgggaaaaa tattaaatta
2521 ttaacattga ggtattaata cattttaagc cttttgtttt taaatttctt ttgttccaga
2581 gattgtttaa aaataaatat tgacaaaaat aatgttttat atcttaattc tagtatctgt
2641 tttatgcttg aaagcattac agatcatgat ac
//