Dbfetch

ID   AY836150; SV 1; linear; genomic DNA; STD; HUM; 3374 BP.
XX
AC   AY836150;
XX
DT   28-DEC-2004 (Rel. 82, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 5)
XX
DE   Homo sapiens MHC class I antigen (HLA-A) gene, HLA-A*01 variant allele,
DE   complete cds; alternatively spliced.
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   1-3374
RX   DOI; 10.1016/j.humimm.2005.06.010.
RX   PUBMED; 16216676.
RA   Reinders J., Rozemuller E.H., Otten H.G., Houben A.J., Dormoy A.,
RA   Mulder A., van den Tweel J.G., Petersen E.J., Tilanus M.G.;
RT   "Identification of HLA-A*0111N: a synonymous substitution, introducing an
RT   alternative splice site in exon 3, silenced the expression of an HLA-A
RT   allele";
RL   Hum. Immunol. 66(8):912-920(2005).
XX
RN   [2]
RP   1-3374
RA   Reinders J., Houben A., Dijk A.V., Weide P.V.D., Arts-Hilkes Y.H.A.,
RA   Rozemuller E.H., Tilanus M.G.J.;
RT   "A new A*010101 variant with a single nucleotide substitution resulting in
RT   a null allele by alternative splicing";
RL   Unpublished.
XX
RN   [3]
RP   1-3374
RA   Reinders J., Houben A., Dijk A.V., Weide P.V.D., Arts-Hilkes Y.H.A.,
RA   Rozemuller E.H., Tilanus M.G.J.;
RT   ;
RL   Submitted (23-NOV-2004) to the INSDC.
RL   Pathology, University Medical Centre Utrecht, Heidelberglaan 100, Utrecht
RL   3584CX, The Netherlands
XX
DR   MD5; b9ad3338cc73e2a99888a36e04c29f75.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..3374
FT                   /organism="Homo sapiens"
FT                   /chromosome="6"
FT                   /map="6p21.3"
FT                   /mol_type="genomic DNA"
FT                   /cell_line="AHPEN"
FT                   /db_xref="taxon:9606"
FT   gene            <1..>3374
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT   mRNA            join(<1..373,504..773,1015..1266,1870..2145,2248..2364,
FT                   2807..2839,2982..3029,3199..>3374)
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /product="MHC class I antigen"
FT   exon            <1..373
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=1
FT   5'UTR           <1..300
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT   CDS             join(301..373,504..773,1015..1266,1870..2145,2248..2364,
FT                   2807..2839,2982..3029,3199..3203)
FT                   /codon_start=1
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /product="MHC class I antigen"
FT                   /db_xref="GOA:Q5MCQ6"
FT                   /db_xref="IMGT/HLA:A*01:11N"
FT                   /db_xref="InterPro:IPR001039"
FT                   /db_xref="InterPro:IPR003006"
FT                   /db_xref="InterPro:IPR003597"
FT                   /db_xref="InterPro:IPR007110"
FT                   /db_xref="InterPro:IPR010579"
FT                   /db_xref="InterPro:IPR011161"
FT                   /db_xref="InterPro:IPR011162"
FT                   /db_xref="InterPro:IPR013783"
FT                   /db_xref="InterPro:IPR021157"
FT                   /db_xref="InterPro:IPR036179"
FT                   /db_xref="InterPro:IPR037055"
FT                   /db_xref="UniProtKB/TrEMBL:Q5MCQ6"
FT                   /protein_id="AAW30165.1"
FT                   /translation="MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPR
FT                   FIAVGYVDDTQFVRFDSDAASQKMEPRAPWIEQEGPEYWDQETRNMKAHSQTDRANLGT
FT                   LRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMA
FT                   AQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENDPPKTHMTHHPISDHEATLRCWAL
FT                   GFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEG
FT                   LPKPLTLRWELSSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAA
FT                   SSDSAQGSDVSLTACKV"
FT   exon            504..773
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=2
FT   exon            1015..1266
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=3
FT   variation       1268
FT                   /gene="HLA-A"
FT                   /replace="g"
FT                   /note="alternatively spliced compared to HLA-A*010101;
FT                   results in altered exon and protein length; no membrane
FT                   expression detected"
FT   exon            1870..2145
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=4
FT   exon            2248..2364
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=5
FT   exon            2807..2839
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=6
FT   exon            2982..3029
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=7
FT   exon            3199..>3374
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
FT                   /number=8
FT   3'UTR           3204..>3374
FT                   /gene="HLA-A"
FT                   /allele="HLA-A*01 variant"
XX
SQ   Sequence 3374 BP; 644 A; 971 C; 1045 G; 714 T; 0 other;
     caggagcaga ggggtcaggg cgaagtccca gggccccagg cgtggctctc agggtctcag        60
     gccccgaagg cggtgtatgg attggggagt cccagccttg gggattcccc aactccgcag       120
     tttcttttct ccctctccca acctacgtag ggtccttcat cctggatact cacgacgcgg       180
     acccagttct cactcccatt gggtgtcggg tttccagaga agccaatcag tgtcgtcgcg       240
     gtcgctgttc taaagtccgc acgcacccac cgggactcag attctcccca gacgccgagg       300
     atggccgtca tggcgccccg aaccctcctc ctgctactct cgggggccct ggccctgacc       360
     cagacctggg cgggtgagtg cggggtcggg agggaaaccg cctctgcggg gagaagcaag       420
     gggccctcct ggcgggggcg caggaccggg ggagccgcgc cgggaggagg gtcgggcagg       480
     tctcagccac tgctcgcccc caggctccca ctccatgagg tatttcttca catccgtgtc       540
     ccggcccggc cgcggggagc cccgcttcat cgccgtgggc tacgtggacg acacgcagtt       600
     cgtgcggttc gacagcgacg ccgcgagcca gaagatggag ccgcgggcgc cgtggataga       660
     gcaggagggg ccggagtatt gggaccagga gacacggaat atgaaggccc actcacagac       720
     tgaccgagcg aacctgggga ccctgcgcgg ctactacaac cagagcgagg acggtgagtg       780
     accccggccc ggggcgcagg tcacgacccc tcatccccca cggacgggcc aggtcgccca       840
     cagtctccgg gtccgagatc caccccgaag ccgcgggact ccgagaccct tgtcccggga       900
     gaggcccagg cgcctttacc cggtttcatt ttcagtttag gccaaaaatc cccccgggtt       960
     ggtcggggcg gggcggggct cgggggactg ggctgaccgc ggggtcgggg ccaggttctc      1020
     acaccatcca gataatgtat ggctgcgacg tggggccgga cgggcgcttc ctccgcgggt      1080
     accggcagga cgcctacgac ggcaaggatt acatcgccct gaacgaggac ctgcgctctt      1140
     ggaccgcggc ggacatggca gctcagatca ccaagcgcaa gtgggaggcg gtccatgcgg      1200
     cggagcagcg gagagtctac ctggagggcc ggtgcgtgga cgggctccgc agatacctgg      1260
     agaacggtaa ggagacgctg cagcgcacgg gtaccagggg ccacggggcg cctccctgat      1320
     cgcctataga tctcccgggc tggcctccca caaggagggg agacaattgg gaccaacact      1380
     agaatatcac cctccctctg gtcctgaggg agaggaatcc tcctgggttt ccagatcctg      1440
     taccagagag tgactctgag gttccgccct gctctctgac acaattaagg gataaaatct      1500
     ctgaaggagt gacgggaaga cgatccctcg aatactgatg agtggttccc tttgacaccg      1560
     gcagcagcct tgggcccgtg acttttcctc tcaggccttg ttctctgctt cacactcaat      1620
     gtgtgtgggg gtctgagtcc agcacttctg agtctctcag cctccactca ggtcaggacc      1680
     agaagtcgct gttcccttct cagggaatag aagattatcc caggtgcctg tgtccaggct      1740
     ggtgtctggg ttctgtgctc tcttccccat cccgggtgtc ctgtccattc tcaagatggc      1800
     cacatgcgtg ctggtggagt gtcccatgac agatgcaaaa tgcctgaatt ttctgactct      1860
     tcccgtcaga cccccccaag acacatatga cccaccaccc catctctgac catgaggcca      1920
     ccctgaggtg ctgggccctg ggcttctacc ctgcggagat cacactgacc tggcagcggg      1980
     atggggagga ccagacccag gacacggagc tcgtggagac caggcctgca ggggatggaa      2040
     ccttccagaa gtgggcggct gtggtggtgc cttctggaga ggagcagaga tacacctgcc      2100
     atgtgcagca tgagggtctg cccaagcccc tcaccctgag atggggtaag gagggagatg      2160
     ggggtgtcat gtctcttagg gaaagcagga gcctctctgg agacctttag cagggtcagg      2220
     gcccctcacc ttcccctctt ttcccagagc tgtcttccca gcccaccatc cccatcgtgg      2280
     gcatcattgc tggcctggtt ctccttggag ctgtgatcac tggagctgtg gtcgctgccg      2340
     tgatgtggag gaggaagagc tcaggtggag aaggggtgaa gggtggggtc tgagatttct      2400
     tgtctcactg agggttccaa gccccagcta gaaatgtgcc ctgtctcatt actgggaagc      2460
     accttccaca atcatgggcc gacccagcct gggccctgtg tgccagcact tactcttttg      2520
     taaagcacct gttaaaatga aggacagatt tatcaccttg attacggcgg tgatgggacc      2580
     tgatcccagc agtcacaagt cacaggggaa ggtccctgag gacagacctc aggagggcta      2640
     ttggtccagg acccacacct gctttcttca tgtttcctga tcccgccctg ggtctgcagt      2700
     cacacatttc tggaaacttc tctggggtcc aagactagga ggttcctcta ggaccttaag      2760
     gccctggctc ctttctggta tctcacagga cattttcttc ccacagatag aaaaggaggg      2820
     agttacactc aggctgcaag taagtatgaa ggaggctgat gcctgaggtc cttgggatat      2880
     tgtgtttggg agcccatggg ggagctcacc caccccacaa ttcctcctct agccacatct      2940
     tctgtgggat ctgaccaggt tctgtttttg ttctacccca ggcagtgaca gtgcccaggg      3000
     ctctgatgtg tctctcacag cttgtaaagg tgagagcttg gagggcctga tgtgtgttgg      3060
     gtgttgggtg gaacagtgga cacagctgtg ctatggggtt tctttgcgtt ggatgtattg      3120
     agcatgcgat gggctgttta aggtgtgacc cctcactgtg atggatatga atttgttcat      3180
     gaatattttt ttctatagtg tgagacagct gccttgtgtg ggactgagag gcaagagttg      3240
     ttcctgccct tccctttgtg acttgaagaa ccctgacttt gtttctgcaa aggcacctgc      3300
     atgtgtctgt gttcgtgtag gcataatgtg aggaggtggg gagagcaccc cacccccatg      3360
     tccaccatga ccct                                                        3374
//