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EBI Dbfetch

ID   J00231; SV 1; linear; mRNA; STD; HUM; 1089 BP.
XX
AC   J00231;
XX
DT   13-JUN-1985 (Rel. 06, Created)
DT   17-APR-2005 (Rel. 83, Last updated, Version 9)
XX
DE   Human Ig gamma3 heavy chain disease OMM protein mRNA.
XX
KW   C-region; gamma heavy chain disease protein;
KW   gamma3 heavy chain disease protein; heavy chain disease; hinge exon;
KW   immunoglobulin gamma-chain; immunoglobulin heavy chain;
KW   secreted immunoglobulin; V-region.
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   1-1089
RX   DOI; 10.1073/pnas.79.10.3260.
RX   PUBMED; 6808505.
RA   Alexander A., Steinmetz M., Barritault D., Frangione B., Franklin E.C.,
RA   Hood L., Buxbaum J.N.;
RT   "gamma Heavy chain disease in man: cDNA sequence supports partial gene
RT   deletion model";
RL   Proc. Natl. Acad. Sci. U.S.A. 79(10):3260-3264(1982).
XX
DR   MD5; dbfb2a63ffcc88671722e91e641adcaa.
DR   CABRI; LMBP 2079.
DR   CABRI; LMBP 2146.
DR   CABRI; LMBP 2147.
DR   CABRI; LMBP 2151.
DR   CABRI; LMBP 2192.
DR   CABRI; LMBP 2193.
DR   CABRI; LMBP 2194.
DR   CABRI; LMBP 2211.
DR   CABRI; LMBP 2316.
DR   CABRI; LMBP 2586.
DR   CABRI; LMBP 2587.
DR   CABRI; LMBP 2589.
DR   CABRI; LMBP 2590.
DR   CABRI; LMBP 3306.
DR   EuropePMC; PMC2739203; 19682364.
DR   IMGT/LIGM; J00231.
XX
CC   The protein isolated from patient OMM is a gamma heavy chain
CC   disease (HCD) protein. It has a large 5' internal deletion
CC   consisting of most of the variable region and the entire ch1
CC   domain. [1] suggests that the protein abnormality is from a partial
CC   gene deletion rather than from defective splicing.
XX
FH   Key             Location/Qualifiers
FH
FT   source          1..1089
FT                   /organism="Homo sapiens"
FT                   /map="14q32.33"
FT                   /mol_type="mRNA"
FT                   /db_xref="taxon:9606"
FT   mRNA            <1..1089
FT                   /note="gamma3 mRNA"
FT   CDS             23..964
FT                   /codon_start=1
FT                   /gene="IGHG3"
FT                   /note="OMM protein (Ig gamma3) heavy chain"
FT                   /db_xref="GOA:P01860"
FT                   /db_xref="HGNC:HGNC:5527"
FT                   /db_xref="InterPro:IPR003006"
FT                   /db_xref="InterPro:IPR003597"
FT                   /db_xref="InterPro:IPR007110"
FT                   /db_xref="InterPro:IPR013783"
FT                   /db_xref="UniProtKB/Swiss-Prot:P01860"
FT                   /protein_id="AAA52805.1"
FT                   /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPPELKTPLGDTTH
FT                   TCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCPAPELLGGP
FT                   SVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVHNAKTKLREEQYN
FT                   STFRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPXXXXXXXXXXXXE
FT                   EMTKNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTPPMLDSDGSFFLYSKLTVDKS
FT                   RWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK"
FT   sig_peptide     26..79
FT                   /gene="IGHG3"
FT                   /note="OMM protein signal peptide"
FT   mat_peptide     80..961
FT                   /gene="IGHG3"
FT                   /note="OMM protein mature peptide"
XX
SQ   Sequence 1089 BP; 240 A; 358 C; 271 G; 176 T; 44 other;
     cctggacctc ctgtgcaaga acatgaaaca nctgtggttc ttccttctcc tggtggcagc        60
     tcccagatgg gtcctgtccc aggtgcacct gcaggagtcg ggcccaggac tggggaagcc       120
     tccagagctc aaaaccccac ttggtgacac aactcacaca tgcccacggt gcccagagcc       180
     caaatcttgt gacacacctc ccccgtgccc acggtgccca gagcccaaat cttgtgacac       240
     acctccccca tgcccacggt gcccagagcc caaatcttgt gacacacctc ccccgtgccc       300
     nnngtgccca gcacctgaac tcttgggagg accgtcagtc ttcctcttcc ccccaaaacc       360
     caaggatacc cttatgattt cccggacccc tgaggtcacg tgcgtggtgg tggacgtgag       420
     ccacgaagac ccnnnngtcc agttcaagtg gtacgtggac ggcgtggagg tgcataatgc       480
     caagacaaag ctgcgggagg agcagtacaa cagcacgttc cgtgtggtca gcgtcctcac       540
     cgtcctgcac caggactggc tgaacggcaa ggagtacaag tgcaaggtct ccaacaaagc       600
     cctcccagcc cccatcgaga aaaccatctc caaagccaaa ggacagcccn nnnnnnnnnn       660
     nnnnnnnnnn nnnnnnnnnn nnnnngagga gatgaccaag aaccaagtca gcctgacctg       720
     cctggtcaaa ggcttctacc ccagcgacat cgccgtggag tgggagagca atgggcagcc       780
     ggagaacaac tacaacacca cgcctcccat gctggactcc gacggctcct tcttcctcta       840
     cagcaagctc accgtggaca agagcaggtg gcagcagggg aacatcttct catgctccgt       900
     gatgcatgag gctctgcaca accgctacac gcagaagagc ctctccctgt ctccgggtaa       960
     atgagtgcca tggccggcaa gcccccgctc cccgggctct cggggtcgcg cgaggatgct      1020
     tggcacgtac cccgtgtaca tacttcccag gcacccagca tggaaataaa gcacccagcg      1080
     ctgccctgg                                                              1089
//


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