LOCUS AJ830742 1198 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 3. ACCESSION AJ830742 VERSION AJ830742.1 KEYWORDS AIPL1 gene; alternative splicing; aryl hydrocarbon receptor interacting protein-like 1. 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 1198) AUTHORS Janke B. JOURNAL Submitted (10-SEP-2004) to the INSDC. Janke B., Paed. Ophthalmology, Ophthalmogenetics, University of Regensburg, Klinikum, Franz-Josef-Strauss-Allee 11, Regensburg, D-93053, GERMANY. REFERENCE 2 AUTHORS Janke B., Preising M., Lorenz B. TITLE Alternative splicing in AIPL1: Implications on function and the mutational spectrum JOURNAL Unpublished. FEATURES Location/Qualifiers source 1..1198 /db_xref="H-InvDB:HIT000249417" /organism="Homo sapiens" /map="17p13.1" /mol_type="mRNA" /tissue_type="retina" /db_xref="taxon:9606" CDS 50..1138 /gene="AIPL1" /product="aryl hydrocarbon receptor interacting protein-like 1" /note="splice variant 3, exon 2 with alternative acceptor splice site" /db_xref="GOA:Q9NZN9" /db_xref="H-InvDB:HIT000249417.12" /db_xref="HGNC:HGNC:359" /db_xref="InterPro:IPR001179" /db_xref="InterPro:IPR011990" /db_xref="InterPro:IPR013026" /db_xref="InterPro:IPR019734" /db_xref="InterPro:IPR031209" /db_xref="InterPro:IPR039663" /db_xref="PDB:5U9A" /db_xref="PDB:5U9I" /db_xref="PDB:5U9J" /db_xref="PDB:5U9K" /db_xref="PDB:5V35" /db_xref="UniProtKB/Swiss-Prot:Q9NZN9" /protein_id="CAH25995.1" /translation="MDAALLLNVEGVKKTILHGGTGELPNFITGSRVGQPMHIIIGNM FKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLA NMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLH GEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCL LKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQ KAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPT APSAELSAGPPAEPATEPPPSPGHSLQH" variation 251 /replace="c" /note="variant D90H" variation 283 /replace="a" /note="variant L100L" variation 634 /replace="a" /note="variant P217P" BASE COUNT 268 a 371 c 371 g 188 t ORIGIN 1 tgtgagatta tctccgcctg tgctggacac ctccctttct cctgcagcca tggatgccgc 61 tctgctcctg aacgtggaag gggtcaagaa aaccattctg cacgggggca cgggcgagct 121 cccaaacttc atcaccggat cccgagtggg ccagcccatg cacatcatca tcggaaacat 181 gttcaagctc gaggtctggg agatcctgct tacctccatg cgggtgcacg aggtggccga 241 gttctggtgc gacaccatcc acacgggggt ctaccccatc ctgtcccgga gcctgaggca 301 gatggcccag ggcaaggacc ccacagagtg gcacgtgcac acgtgcgggc tggccaacat 361 gttcgcctac cacacgctgg gctacgagga cctggacgag ctgcagaagg agcctcagcc 421 tctggtcttt gtgatcgagc tgctgcaggt tgatgccccg agtgattacc agagggagac 481 ctggaacctg agcaatcatg agaagatgaa ggcggtgccc gtcctccacg gagagggaaa 541 tcggctcttc aagctgggcc gctacgagga ggcctcttcc aagtaccagg aggccatcat 601 ctgcctaagg aacctgcaga ccaaggagaa gccgtgggag gtgcagtggc tgaagctgga 661 gaagatgatc aatactctga tcctcaacta ctgccagtgc ctgctgaaga aggaggagta 721 ctatgaggtg ctggagcaca ccagtgatat tctccggcac cacccaggca tcgtgaaggc 781 ctactacgtg cgtgcccggg ctcacgcaga ggtgtggaat gaggccgagg ccaaggcgga 841 cctccagaaa gtgctggagc tggagccgtc catgcagaag gcggtgcgca gggagctgag 901 gctgctggag aaccgcatgg cggagaagca ggaggaggag cggctgcgct gccggaacat 961 gctgagccag ggtgccacgc agcctcccgc agagccaccc acagagccac ccgcacagtc 1021 atccacagag ccacctgcag agccacccac agcaccatct gcagagctgt ccgcagggcc 1081 ccctgcagag ccagccacag agccaccccc gtccccaggg cactcgctgc agcactgagc 1141 cccctgaggc ccacagccac ccaggcaggg agcaagtggc ctggtcactt ctagatca //