LOCUS AJ830743 1192 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 4. ACCESSION AJ830743 VERSION AJ830743.1 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 1192) 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M., Lorenz B. TITLE Alternative splicing in AIPL1: Implications on function and the mutational spectrum JOURNAL Unpublished.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..1192 /db_xref="H-InvDB:HIT000249418" /organism="Homo sapiens" /map="17p13.1" /mol_type="mRNA" /tissue_type="retina" /db_xref="taxon:9606" CDS 50..1132 /gene="AIPL1" /product="aryl hydrocarbon receptor interacting protein-like 1" /note="splice variant 4, exon 5 with alternative acceptor splice site" /db_xref="GOA:Q9NZN9" /db_xref="H-InvDB:HIT000249418.12" /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="CAH25996.1" /translation="MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDE ERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSR SLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPS DYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKCLLK KEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKA VRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAP SAELSAGPPAEPATEPPPSPGHSLQH" variation 160 /replace="t" /note="variant F37F" variation 317 /replace="c" /note="variant D90H" variation 349 /replace="a" /note="variant L100L" BASE COUNT 265 a 370 c 367 g 190 t ORIGIN 1 tgtgagatta tctccgcctg tgctggacac ctccctttct cctgcagcca tggatgccgc 61 tctgctcctg aacgtggaag gggtcaagaa aaccattctg cacgggggca cgggcgagct 121 cccaaacttc atcaccggat cccgagtgat ctttcatttc cgcaccatga aatgtgatga 181 ggagcggaca gtcattgacg acagtcggca ggtgggccag cccatgcaca tcatcatcgg 241 aaacatgttc aagctcgagg tctgggagat cctgcttacc tccatgcggg tgcacgaggt 301 ggccgagttc tggtgcgaca ccatccacac gggggtctac cccatcctgt cccggagcct 361 gaggcagatg gcccagggca aggaccccac agagtggcac gtgcacacgt gcgggctggc 421 caacatgttc gcctaccaca cgctgggcta cgaggacctg gacgagctgc agaaggagcc 481 tcagcctctg gtctttgtga tcgagctgct gcaggttgat gccccgagtg attaccagag 541 ggagacctgg aacctgagca atcatgagaa gatgaaggcg gtgcccgtcc tccacggaga 601 gggaaatcgg ctcttcaagc tgggccgcta cgaggaggcc tcttccaagt accaggaggc 661 catcatctgc ctaaggaacc tgcagaccaa gtgcctgctg aagaaggagg agtactatga 721 ggtgctggag cacaccagtg atattctccg gcaccaccca ggcatcgtga aggcctacta 781 cgtgcgtgcc cgggctcacg cagaggtgtg gaatgaggcc gaggccaagg cggacctcca 841 gaaagtgctg gagctggagc cgtccatgca gaaggcggtg cgcagggagc tgaggctgct 901 ggagaaccgc atggcggaga agcaggagga ggagcggctg cgctgccgga acatgctgag 961 ccagggtgcc acgcagcctc ccgcagagcc acccacagag ccacccgcac agtcatccac 1021 agagccacct gcagagccac ccacagcacc atctgcagag ctgtccgcag ggccccctgc 1081 agagccagcc acagagccac ccccgtcccc agggcactcg ctgcagcact gagccccctg 1141 aggcccacag ccacccaggc agggagcaag tggcctggtc acttctagat ca //