Dbfetch

ID   FM164485; SV 1; linear; genomic DNA; STD; HUM; 2115 BP.
XX
AC   FM164485;
XX
DT   12-JUN-2008 (Rel. 96, Created)
DT   12-JUN-2008 (Rel. 96, Last updated, Version 1)
XX
DE   Homo sapiens partial HLA-A gene for MHC class I antigen, HLA-A*01 null
DE   allele, exons 1-5
XX
KW   .
XX
OS   Homo sapiens (human)
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
XX
RN   [1]
RP   1-2115
RA   Dormoy A.;
RT   ;
RL   Submitted (29-MAY-2008) to the INSDC.
RL   Dormoy A., Laboratoire HLA, Etablissement Francais du Sang - Alsace, 10 rue
RL   Spielmann, 67000, FRANCE.
XX
RN   [2]
RA   Dormoy A., Weschler B., Bois M., Jollet I.;
RT   "The HLA-A*01null allele has 1 nucleotide deletion at position 558 or 559
RT   of exon 3 resulting in a change of the reading frame and hence to a
RT   premature STOP codon (TGA) at position 189 of exon 4..";
RL   Unpublished.
XX
DR   MD5; 94d940e34e8242ff24b4a4aafd40e87c.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..2115
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /mol_type="genomic DNA"
FT                   /PCR_primers="fwd_name: P5' Ala C-9, fwd_seq:
FT                   ctgctactctcgggggcc, rev_name: P3' Intron 6A, rev_seq:
FT                   cccacagaasatgtggctag"
FT                   /db_xref="taxon:9606"
FT   mRNA            join(1..26,157..426,668..942,1472..1747,1850..1946)
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT   CDS             join(<1..26,157..426,668..942,1472..1492)
FT                   /codon_start=2
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /product="MHC class I antigen"
FT                   /function="antigen presenting molecule"
FT                   /note="premature stop codon at 189 bp leads to truncated
FT                   product"
FT                   /db_xref="GOA:B3GW70"
FT                   /db_xref="IMGT/HLA:A*01:15N"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
FT                   /db_xref="InterPro:IPR027648"
FT                   /db_xref="UniProtKB/TrEMBL:B3GW70"
FT                   /protein_id="CAQ58413.1"
FT                   /translation="LALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFD
FT                   SDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQ
FT                   IMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMAAQITKRKWEAVHAAEQ
FT                   RRVYLEGGAWTGSADTWRTGRRRCSARTPPRHI"
FT   exon            <1..26
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=1
FT   intron          27..156
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=1
FT   exon            157..426
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=2
FT   intron          427..667
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=2
FT   exon            668..942
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=3
FT   intron          943..1471
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=3
FT   exon            1472..1747
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=4
FT   intron          1748..1849
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=4
FT   exon            1850..1946
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01null"
FT                   /number=5
XX
SQ   Sequence 2115 BP; 401 A; 633 C; 695 G; 386 T; 0 other;
     cctggccctg acccagacct gggcgggtga gtgcggggtc gggagggaaa ccgcctctgc        60
     ggggagaagc aaggggccct cctggcgggg gcgcaggacc gggggagccg cgccgggagg       120
     agggtcgggc aggtctcagc cactgctcgc ccccaggctc ccactccatg aggtatttct       180
     tcacatccgt gtcccggccc ggccgcgggg agccccgctt catcgccgtg ggctacgtgg       240
     acgacacgca gttcgtgcgg ttcgacagcg acgccgcgag ccagaagatg gagccgcggg       300
     cgccgtggat agagcaggag gggccggagt attgggacca ggagacacgg aatatgaagg       360
     cccactcaca gactgaccga gcgaacctgg ggaccctgcg cggctactac aaccagagcg       420
     aggacggtga gtgaccccgg cccggggcgc aggtcacgac ccctcatccc ccacggacgg       480
     gccaggtcgc ccacagtctc cgggtccgag atccaccccg aagccgcggg actccgagac       540
     ccttgtcccg ggagaggccc aggcgccttt acccggtttc attttcagtt taggccaaaa       600
     atccccccgg gttggtcggg gcggggcggg gctcggggga ctgggctgac cgcggggtcg       660
     gggccaggtt ctcacaccat ccagataatg tatggctgcg acgtggggcc ggacgggcgc       720
     ttcctccgcg ggtaccggca ggacgcctac gacggcaagg attacatcgc cctgaacgag       780
     gacctgcgct cttggaccgc ggcggacatg gcagctcaga tcaccaagcg caagtgggag       840
     gcggtccatg cggcggagca gcggagagtc tacctggagg gcggtgcgtg gacgggctcc       900
     gcagatacct ggagaacggg aaggagacgc tgcagcgcac gggtaccagg ggccacgggg       960
     cgcctccctg atcgcctata gatctcccgg gctggcctcc cacaaggagg ggagacaatt      1020
     gggaccaaca ctagaatatc accctccctc tggtcctgag ggagaggaat cctcctgggt      1080
     ttccagatcc tgtaccagag agtgactctg aggttccgcc ctgctctctg acacaattaa      1140
     gggataaaat ctctgaagga gtgacgggaa gacgatccct cgaatactga tgagtggttc      1200
     tgttctctgc ttcacactca atgtgtgtgg gggtctgagt ccagcacttc tgagtctctc      1260
     agcctccact caggtcagga ccagaagtcg ctgttccctt ctcagggaat agaagattat      1320
     cccaggtgcc tgtgtccagg ctggtgtctg ggttctgtgc tctcttcccc atcccgggtg      1380
     tcctgtccat tctcaagatg gccacatgcg tgctggtgga gtgtcccatg acagatgcaa      1440
     aatgcctgaa ttttctgact cttcccgtca gaccccccca agacacatat gacccaccac      1500
     cccatctctg accatgaggc caccctgagg tgctgggccc tgggcttcta ccctgcggag      1560
     atcacactga cctggcagcg ggatggggag gaccagaccc aggacacgga gctcgtggag      1620
     accaggcctg caggggatgg aaccttccag aagtgggcgg ctgtggtggt gccttctgga      1680
     gaggagcaga gatacacctg ccatgtgcag catgagggtc tgcccaagcc cctcaccctg      1740
     agatggggta aggagggaga tgggggtgtc atgtctctta gggaaagcag gagcctctct      1800
     ggagaccttt agcagggtca gggcccctca ccttcccctc ttttcccaga gctgtcttcc      1860
     cagcccacca tccccatcgt gggcatcatt gctggcctgg ttctccttgg agctgtgatc      1920
     actggagctg tggtcgctgc cgtgatgtgg aggaggaaga gctcaggtgg agaaggggtg      1980
     aagggtgggg tctgagattt cttgtctcac tgagggttcc aagccccagc tagaaatgtg      2040
     ccctgtctca ttactgggaa gcaccttcca caatcatggg ccgacccagc ctgggccctg      2100
     tgtgccagca cttac                                                       2115
//