LOCUS       HUMIGHAF                1089 bp    mRNA    linear   HUM 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"
BASE COUNT          240 a          358 c          271 g          176 t
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
//