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EBI Dbfetch

ID   X60108; SV 1; linear; mRNA; STD; HUM; 1095 BP.
XX
AC   X60108;
XX
DT   29-NOV-1991 (Rel. 30, Created)
DT   17-JUN-2008 (Rel. 96, Last updated, Version 8)
XX
DE   H.sapiens gene for HLA-A2902
XX
KW   HLA-A29 (W19); HLA-A2902 gene; major histocompatibility complex class I.
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   1-1095
RA   Cohen J.H.M.;
RT   ;
RL   Submitted (03-MAY-1991) to the INSDC.
RL   J.H.M. Cohen, Immunological Laboratory, Hopital Robert Debre, Rue Alexis
RL   Carrel, 51092 Reims Cedex, France.
XX
RN   [2]
RX   PUBMED; 1782566.
RA   Tabary T., Prochnicka-Chalufour A., Cornillet P., Lehoang P., Betuel H.,
RA   Cohen H.M.;
RT   "HLA-A29 sub-types and "Birdshot" choroido-retinopathy susceptibility: a
RT   possible "resistance motif" in the HLA-A29.1 molecule";
RL   C. R. Acad. Sci. III, Sci. Vie 313(13):599-605(1991).
XX
DR   MD5; b078f291c8b9d69aedd9e7225358bb37.
DR   Ensembl-Gn; ENSG00000231834; homo_sapiens.
DR   Ensembl-Tr; ENST00000456012; homo_sapiens.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..1095
FT                   /organism="Homo sapiens"
FT                   /chromosome="6p21.3 classI LocusA"
FT                   /isolate="patients and healthy control/4"
FT                   /mol_type="mRNA"
FT                   /haplotype="homozygous"
FT                   /clone="A29.2"
FT                   /cell_line="Lymphoblastoid cells lines"
FT                   /cell_type="lymphocytes"
FT                   /tissue_type="blood"
FT                   /germline
FT                   /db_xref="taxon:9606"
FT   CDS             1..>1095
FT                   /product="HLA-A2902"
FT                   /note="Class I MHC protein"
FT                   /db_xref="GOA:P30512"
FT                   /db_xref="H-InvDB:HIT000322377.9"
FT                   /db_xref="HGNC:HGNC:4931"
FT                   /db_xref="IMGT/HLA:A*29:02:01:01"
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:IPR027648"
FT                   /db_xref="UniProtKB/Swiss-Prot:P30512"
FT                   /protein_id="CAA42702.1"
FT                   /translation="MAVMAPRTLLLLLLGALALTQTWAGSHSMRYFTTSVSRPGRGEPR
FT                   FIAVGYVDDTQFVRFDSDAASQRMEPRAPWIEQEGPEYWDLQTRNVKAQSQTDRANLGT
FT                   LRGYYNQSEAGSHTIQMMYGCDVGSDGRFLRGYRQDAYDGKDYIALNEDLRSWTAADMA
FT                   AQITQRKWEAARVAEQLRAYLEGTCVEWLRRYLENGKETLQRTDAPKTHMTHHAVSDHE
FT                   ATLRCWALSFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWASVVVPSGQEQRY
FT                   TCHVQHEGLPKPLTLRWEPSSQPTIPIVGIIAGLVLFGAVFAGAVVAAVRWRRKSSDRK
FT                   GGSYSQAASSDSAQGSDMSLTACKV"
FT   sig_peptide     1..72
FT                   /note="exon 1"
FT   mat_peptide     73..>1095
FT   misc_feature    73..342
FT                   /note="Alpha 1 domain (exon 2)"
FT   misc_feature    343..618
FT                   /note="Alpha 2 domain (exon 3)"
FT   misc_feature    343..618
FT                   /note="Alpha 3 domain (exon 4)"
FT   variation       376
FT                   /note="G"
FT                   /note="A29.2"
FT   misc_feature    895..1011
FT                   /note="Transmembrane domain (exon 5)"
FT   variation       909
FT                   /note="G"
FT                   /note="A29.2"
FT   misc_feature    1012..1095
FT                   /note="Intracytoplasmic domain (exons 6, 7 and 8)"
FT   variation       1034
FT                   /note="C"
FT                   /note="A29.2"
FT   variation       1035
FT                   /note="T"
FT                   /note="A29.2"
XX
SQ   Sequence 1095 BP; 213 A; 326 C; 370 G; 186 T; 0 other;
     atggccgtca tggcgccccg aaccctcctc ctgctactct tgggggccct ggccctgacc        60
     cagacctggg cgggctccca ctccatgagg tatttcacca catccgtgtc ccggcccggc       120
     cgcggggagc cccgcttcat cgccgtgggc tacgtggacg acacgcagtt cgtgcggttt       180
     gacagcgacg ccgcgagcca gaggatggag ccgcgggcac cgtggataga gcaggagggg       240
     ccggagtatt gggacctgca gacacggaat gtgaaggccc agtcacagac tgaccgagcg       300
     aacctgggga ccctgcgcgg ctactacaac cagagcgagg ccggttctca caccatccag       360
     atgatgtatg gctgcgacgt ggggtcggac gggcgcttcc tccgcgggta ccggcaggac       420
     gcctacgacg gcaaggatta catcgccttg aacgaggacc tgcgctcttg gaccgcggcg       480
     gacatggcgg ctcagatcac ccagcgcaag tgggaggcgg cccgtgtggc ggagcagttg       540
     agagcctacc tggagggcac gtgcgtggag tggctccgca gatacctgga gaacgggaag       600
     gagacgctgc agcgcacgga cgcccccaag acgcatatga ctcaccacgc tgtctctgac       660
     catgaggcca ccctgaggtg ctgggccctg agcttctacc ctgcggagat cacactgacc       720
     tggcagcggg atggggagga ccagacccag gacacggagc ttgtggagac caggcctgca       780
     ggggatggaa ccttccagaa gtgggcgtct gtggtggtgc cttctggaca ggagcagaga       840
     tacacctgcc atgtgcagca tgagggtctg cccaagcccc tcaccctgag atgggagccg       900
     tcttcccagc ccaccatccc catcgtgggc atcattgctg gcctagttct ctttggagct       960
     gtgttcgctg gagctgtggt cgctgctgtg aggtggagga ggaagagctc agatagaaaa      1020
     ggagggagct actctcaggc tgcaagcagt gacagtgccc agggctctga tatgtctctc      1080
     acagcttgta aagtg                                                       1095
//


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