LOCUS AJ633678 1068 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for aryl hydrocarbon receptor interacting protein-like 1 (AIPL1 gene), splice variant 1. ACCESSION AJ633678 VERSION AJ633678.1 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 1068) AUTHORS Janke B. JOURNAL Submitted (22-MAR-2004) to the INSDC. Janke B., Ped. Ophthalmology, Ophthalmogenetics, Klinikum, University of Regensburg, Franz-Josef-Strauss-Allee 11, D-953053 Regensburg, 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M., Lorenz B. TITLE Alternative splicing in AIPL1: Implications on function and the mutational spectrum JOURNAL Unpublished.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..1068 /db_xref="H-InvDB:HIT000249338" /organism="Homo sapiens" /map="17p13.1" /mol_type="mRNA" /tissue_type="retina" /db_xref="taxon:9606" CDS 49..1014 /gene="AIPL1" /product="aryl hydrocarbon receptor interacting protein-like 1" /note="splice variant 1 lacking exon 3 of full length transcript" /db_xref="GOA:Q6ZZB5" /db_xref="H-InvDB:HIT000249338.12" /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="UniProtKB/TrEMBL:Q6ZZB5" /protein_id="CAG17883.1" /translation="MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDE ERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCHTIVDAPSDYQRE TWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWL KLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEA EAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPP TEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH" variation 159 /replace="t" /note="variant F37F" variation 316 /replace="g" /note="variant D90H" variation 510 /replace="a" /note="variant P217P" BASE COUNT 245 a 324 c 327 g 172 t ORIGIN 1 gtgagattat ctccgcctgt gctggacacc tccctttctc ctgcagccat ggatgccgct 61 ctgctcctga acgtggaagg ggtcaagaaa accattctgc acgggggcac gggcgagctc 121 ccaaacttca tcaccggatc ccgagtgatc tttcatttcc gcaccatgaa atgtgatgag 181 gagcggacag tcattgacga cagtcggcag gtgggccagc ccatgcacat catcatcgga 241 aacatgttca agctcgaggt ctgggagatc ctgcttacct ccatgcgggt gcacgaggtg 301 gccgagttct ggtgccacac catcgttgat gccccgagtg attaccagag ggagacctgg 361 aacctgagca atcatgagaa gatgaaggcg gtgcccgtcc tccacggaga gggaaatcgg 421 ctcttcaagc tgggccgcta cgaggaggcc tcttccaagt accaggaggc catcatctgc 481 ctaaggaacc tgcagaccaa ggagaagccg tgggaggtgc agtggctgaa gctggagaag 541 atgatcaata ctctgatcct caactactgc cagtgcctgc tgaagaagga ggagtactat 601 gaggtgctgg agcacaccag tgatattctc cggcaccacc caggcatcgt gaaggcctac 661 tacgtgcgtg cccgggctca cgcagaggtg tggaatgagg ccgaggccaa ggcggacctc 721 cagaaagtgc tggagctgga gccgtccatg cagaaggcgg tgcgcaggga gctgaggctg 781 ctggagaacc gcatggcgga gaagcaggag gaggagcggc tgcgctgccg gaacatgctg 841 agccagggtg ccacgcagcc tcccgcagag ccacccacag agccacccgc acagtcatcc 901 acagagccac ctgcagagcc acccacagca ccatctgcag agctgtccgc agggccccct 961 gcagagccag ccacagagcc acccccgtcc ccagggcact cgctgcagca ctgagccccc 1021 tgaggcccac agccacccag gcagggagca agtggcctgg tcacttct //