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  JOURNAL   Unpublished.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
//