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  JOURNAL   Unpublished.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
//