LOCUS Z48804 1607 bp mRNA linear HUM 07-OCT-2008
DEFINITION H.sapiens mRNA (ocular albinism type 1 related).
ACCESSION Z48804
VERSION Z48804.1
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 1607)
AUTHORS Bassi M., Schiaffino V., Renieri A., De Nigris F., Galli L.,
Bruttini M., Gebbia M.A.B., Bergen A.A., Lewis R., Ballabio A.
TITLE Cloning of the gene for ocular albinism type 1 from the distal
short arm of the X chromosome
JOURNAL Nat Genet 10(1), 13-19(1995).
PUBMED 7647783
REFERENCE 2 (bases 1 to 1607)
AUTHORS Schiaffino M.V.
JOURNAL Submitted (28-MAR-1995) to the INSDC. Maria V. Schiaffino, TIGEM -
Telethon Institute of Genetics and Medicine, Via Olgettina, 58,
Milano, ITALY, 20132
FEATURES Location/Qualifiers
source 1..1607
/db_xref="H-InvDB:HIT000327435"
/organism="Homo sapiens"
/chromosome="X"
/map="p22.3-22.2"
/mol_type="mRNA"
/dev_stage="adult"
/tissue_type="retina"
/db_xref="taxon:9606"
mRNA 1..1607
CDS 1..1275
/gene="OA1"
/function="defective potential cause of ocular albinism
type 1"
/db_xref="GOA:P51810"
/db_xref="H-InvDB:HIT000327435.12"
/db_xref="HGNC:HGNC:20145"
/db_xref="InterPro:IPR001414"
/db_xref="UniProtKB/Swiss-Prot:P51810"
/protein_id="CAA88742.1"
/translation="MTQAGRRGPGTPEPRPRTQPMASPRLGTFCCPTRDAATQLVLSF
QPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRILRAAAACDLLGC
LGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVD
AYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTM
YLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIIC
WLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWT
GCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVGGQTSDEALSMLS
EGSDASTIEIHTASESCNKNEGDPALPTHGDL"
regulatory 1589..1594
/regulatory_class="polyA_signal_sequence"
polyA_site 1607
BASE COUNT 325 a 466 c 439 g 377 t
ORIGIN
1 atgacccagg caggccggcg gggtcctggc acacccgagc cgcgtccgcg aacacagccc
61 atggcctccc cgcgcctagg gaccttctgc tgccccacgc gggacgcagc cacgcagctc
121 gtgctgagct tccagccgcg ggccttccac gcgctctgcc tgggcagcgg cgggctccgc
181 ttggcgctgg gccttctgca gctgctgccc ggccgccggc ccgcgggccc cgggtccccc
241 gcgacgtccc cgccggcctc ggtccgcatc ctgcgcgctg ccgctgcctg cgaccttctc
301 ggctgcctgg gtatggtgat ccggtccacc gtgtggttag gattcccaaa ttttgttgac
361 agcgtctcgg atatgaacca cacggaaatt tggcctgctg ctttctgcgt ggggagtgcg
421 atgtggatcc agctgttgta cagtgcctgc ttctggtggc tgttttgcta tgcagtggat
481 gcttatctgg tgatccggag atcggcagga ctgagcacca tcctgctgta tcacatcatg
541 gcgtggggcc tggccaccct gctctgtgtg gagggagccg ccatgctcta ctacccttcc
601 gtgtccaggt gtgagcgggg cctggaccac gccatccccc actatgtcac catgtacctg
661 cccctgctgc tggttctcgt ggcgaacccc atcctgttcc aaaagacagt gactgcagtg
721 gcctctttac ttaaaggaag acaaggcatt tacacggaga acgagaggag gatgggagcc
781 gtgatcaaga tccgattttt caaaatcatg ctggttttaa ttatttgttg gttgtcgaat
841 atcatcaatg aaagcctttt attctatctt gagatgcaaa cagatatcaa tggaggttct
901 ttgaaacctg tcagaactgc agccaagacc acatggttta ttatgggaat cctgaatcca
961 gcccagggat ttctcttgtc tttggccttc tacggctgga caggatgcag cctgggtttt
1021 cagtctccca ggaaggagat ccagtgggaa tcactgacca cctcggctgc tgagggggct
1081 cacccatccc cactgatgcc ccatgaaaac cctgcttccg ggaaggtgtc tcaagtgggt
1141 gggcagactt ctgacgaagc cctgagcatg ctgtctgaag gttctgatgc cagcacaatt
1201 gaaattcaca ctgcaagtga atcctgcaac aaaaatgagg gtgaccctgc tctcccaacc
1261 catggagacc tatgaagggg atgtgctggg ggtccagacc ccatattcct cagactcaac
1321 aattcttgtt ctttagaact gtgttctcac cttcccaaca ctgcactgcc gaagtgtagc
1381 ggcccccaaa ccttgctctc atcaccagct agagcttctt cccgaagggc ctttaggata
1441 ggagaaaggg ttcatgcaca cacgtgtgag aatggaagag ccccctccag accactctac
1501 agctgctcta gccttagttg ccactaggaa gttttctgag gctggctgta aagtaagtgt
1561 aaggtccaca tccttgggga agtagttaaa taaaatagtt atgactg
//