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  JOURNAL   Unpublished.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
//