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="InterPro:IPR036179"
FT                   /db_xref="PDB:4WWI"
FT                   /db_xref="PDB:4ZNC"
FT                   /db_xref="PDB:5M3V"
FT                   /db_xref="PDB:5W38"
FT                   /db_xref="PDB:6D58"
FT                   /db_xref="PDB:6G1E"
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;