LOCUS HUMIGHAF 1089 bp mRNA linear PRI 09-NOV-1994 DEFINITION Human Ig gamma3 heavy chain disease OMM protein mRNA. ACCESSION J00231 VERSION J00231.1 KEYWORDS C-region; V-region; gamma heavy chain disease protein; gamma3 heavy chain disease protein; heavy chain disease; hinge exon; immunoglobulin gamma-chain; immunoglobulin heavy chain; secreted immunoglobulin. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1089) AUTHORS Alexander,A., Steinmetz,M., Barritault,D., Frangione,B., Franklin,E.C., Hood,L. and Buxbaum,J.N. TITLE gamma Heavy chain disease in man: cDNA sequence supports partial gene deletion model JOURNAL Proc. Natl. Acad. Sci. U.S.A. 79 (10), 3260-3264 (1982) PUBMED 6808505 COMMENT Original source text: Human (patient OMM) peripheral blood cells, cDNA to mRNA. The protein isolated from patient OMM is a gamma heavy chain disease (HCD) protein. It has a large 5' internal deletion consisting of most of the variable region and the entire ch1 domain. [1] suggests that the protein abnormality is from a partial gene deletion rather than from defective splicing. FEATURES Location/Qualifiers source 1..1089 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="14q32.33" gene 1..1089 /gene="IGHG3" mRNA <1..1089 /gene="IGHG3" /product="gamma3 mRNA" CDS 23..964 /gene="IGHG3" /note="OMM protein (Ig gamma3) heavy chain" /codon_start=1 /protein_id="AAA52805.1" /db_xref="GDB:G00-119-339" /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPPELKTPLGDTT HTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCPAPELLG GPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVHNAKTKLREE QYNSTFRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPXXXXXXXXX XXXEEMTKNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTPPMLDSDGSFFLYSKL TVDKSRWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK" sig_peptide 26..79 /gene="IGHG3" /note="OMM protein signal peptide" mat_peptide 80..961 /gene="IGHG3" /product="OMM protein mature peptide" ORIGIN 1 cctggacctc ctgtgcaaga acatgaaaca nctgtggttc ttccttctcc tggtggcagc 61 tcccagatgg gtcctgtccc aggtgcacct gcaggagtcg ggcccaggac tggggaagcc 121 tccagagctc aaaaccccac ttggtgacac aactcacaca tgcccacggt gcccagagcc 181 caaatcttgt gacacacctc ccccgtgccc acggtgccca gagcccaaat cttgtgacac 241 acctccccca tgcccacggt gcccagagcc caaatcttgt gacacacctc ccccgtgccc 301 nnngtgccca gcacctgaac tcttgggagg accgtcagtc ttcctcttcc ccccaaaacc 361 caaggatacc cttatgattt cccggacccc tgaggtcacg tgcgtggtgg tggacgtgag 421 ccacgaagac ccnnnngtcc agttcaagtg gtacgtggac ggcgtggagg tgcataatgc 481 caagacaaag ctgcgggagg agcagtacaa cagcacgttc cgtgtggtca gcgtcctcac 541 cgtcctgcac caggactggc tgaacggcaa ggagtacaag tgcaaggtct ccaacaaagc 601 cctcccagcc cccatcgaga aaaccatctc caaagccaaa ggacagcccn nnnnnnnnnn 661 nnnnnnnnnn nnnnnnnnnn nnnnngagga gatgaccaag aaccaagtca gcctgacctg 721 cctggtcaaa ggcttctacc ccagcgacat cgccgtggag tgggagagca atgggcagcc 781 ggagaacaac tacaacacca cgcctcccat gctggactcc gacggctcct tcttcctcta 841 cagcaagctc accgtggaca agagcaggtg gcagcagggg aacatcttct catgctccgt 901 gatgcatgag gctctgcaca accgctacac gcagaagagc ctctccctgt ctccgggtaa 961 atgagtgcca tggccggcaa gcccccgctc cccgggctct cggggtcgcg cgaggatgct 1021 tggcacgtac cccgtgtaca tacttcccag gcacccagca tggaaataaa gcacccagcg 1081 ctgccctgg //