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="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; 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 //