EBI Dbfetch

ID   J00231 IMGT/LIGM annotation : by annotators; mRNA; HUM; 1089 BP.
XX
AC   J00231;
XX
DT   15-MAY-1995 (Rel. 2, arrived in LIGM-DB )
DT   17-JAN-2013 (Rel. 201303-4, Last updated, Version 8)
XX
DE   Human Ig gamma3 heavy chain disease OMM protein mRNA.  ;
DE   mRNA; rearranged configuration; Ig-Heavy-Gamma; regular; group IGHV. 
XX
KW   antigen receptor; Immunoglobulin superfamily (IgSF); IG-Heavy; 
KW   IG-Heavy-Gamma; constant; variable; heavy chain disease (HCD); regular; 
KW   cDNA; undefined; rearranged. 
XX
OS   Homo sapiens (human)
OC   cellular organisms; Eukaryota; Fungi/Metazoa group; Metazoa; Eumetazoa; 
OC   Bilateria; Coelomata; Deuterostomia; Chordata; Craniata; Vertebrata; 
OC   Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Tetrapoda; 
OC   Amniota; Mammalia; Theria; Eutheria; Euarchontoglires; Primates; 
OC   Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; 
OC   Homo/Pan/Gorilla group; Homo. 
XX
RN   [1]
RP   1-1089
RX   MEDLINE; 82247835.
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   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   GDB; GDB:119339.
DR   EMBL; 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   MISC_FEATURE        1..1089
FT                       /db_xref="taxon:9606"
FT                       /note="internal deletion emcompassing most of the V
FT                       region and the CH1 domain"
FT                       /map="14q32.33"
FT                       /organism="Homo sapiens"
FT   5'UTR               1..22
FT   L-V-D-J-C-REGION    23..961
FT                       /db_xref="GOA:P01860; Genew:5527; HSSP:1E4K;
FT                       UniProt/Swiss-Prot:P01860"
FT                       /note="deletion of CH1 domain"
FT                       /protein_id="AAA52805.1"
FT                       /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPPELKTPLG
FT                       DTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCP
FT                       APELLGGPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVH
FT                       NAKTKLREEQYNSTFRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAK
FT                       GQPXXXXXXXXXXXXEEMTKNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTP
FT                       PMLDSDGSFFLYSKLTVDKSRWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK"
FT   L-V-REGION          23..124
FT                       /note="deletion of the V region"
FT                       /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPP"
FT   L-REGION            23..79
FT                       /translation="MKXLWFFLLLVAAPRWVLS"
FT   INIT-CODON          23..25
FT   V-D-J-C-REGION      80..961
FT                       /note="deletion of the V region and CH1 domain"
FT                       /translation="QVHLQESGPGLGKPPELKTPLGDTTHTCPRCPEPKSCDTPP
FT                       PCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCPAPELLGGPSVFLFPPKPKD
FT                       TLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVHNAKTKLREEQYNSTFRVVS
FT                       VLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPXXXXXXXXXXXXEEMT
FT                       KNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTPPMLDSDGSFFLYSKLTVDK
FT                       SRWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK"
FT   V-REGION            80..124
FT                       /note="deletion of the V region"
FT                       /translation="QVHLQESGPGLGKPP"
FT   H                   125..310
FT                       /translation="ELKTPLGDTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPP
FT                       PCPRCPEPKSCDTPPPCPXCP"
FT   CH2                 311..643
FT                       /translation="APELLGGPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDP
FT                       XVQFKWYVDGVEVHNAKTKLREEQYNSTFRVVSVLTVLHQDWLNGKEYKCKVSNK
FT                       ALPAPIEKTISKAKG"
FT   CH3                 644..961
FT                       /translation="QPXXXXXXXXXXXXEEMTKNQVSLTCLVKGFYPSDIAVEWE
FT                       SNGQPENNYNTTPPMLDSDGSFFLYSKLTVDKSRWQQGNIFSCSVMHEALHNRYT
FT                       QKSLSLSPGK"
FT   STOP-CODON          962..964
FT   3'UTR               962..1089
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
//