ID J00231; SV 1; linear; cDNA; STD; HUM; 1089 BP.
XX
AC J00231;
XX
DT 15-MAY-1995 (Rel. 199520-1, 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.
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; Opisthokonta; Metazoa; Eumetazoa; Bilateria;
OC Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi;
OC Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota;
OC Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates;
OC Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae;
OC Homo; Homo sapiens.
XX
RN [1]
RP 1-1089
RA Yong X.;
RT "Antigenized antibody vaccine for foot-and-mouth disease";
RL Hong Kong University of Science & Technology;; HKX;.
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 ENA; J00231.
DR GDB; GDB:119339.
XX
CC IMGT/LIGM-DB annotation level: by annotators
CC
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 /map="14q32.33"
FT /note="internal deletion emcompassing most of the V
FT region and the CH1 domain"
FT /organism="Homo sapiens"
FT 5'UTR 1..22
FT L-V-D-J-C-REGION 23..961
FT /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPPELKTPLG
FT DTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCP
FT APELLGGPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVH
FT NAKTKLREEQYNSTFRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAK
FT GQPXXXXXXXXXXXXEEMTKNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTP
FT PMLDSDGSFFLYSKLTVDKSRWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK"
FT /db_xref="Genew:5527"
FT /db_xref="GOA:P01860"
FT /db_xref="HSSP:1E4K"
FT /db_xref="UniProt/Swiss-Prot:P01860"
FT /note="deletion of CH1 domain"
FT /protein_id="AAA52805.1"
FT L-V-REGION 23..124
FT /translation="MKXLWFFLLLVAAPRWVLSQVHLQESGPGLGKPP"
FT /note="deletion of the V region"
FT L-REGION 23..79
FT /translation="MKXLWFFLLLVAAPRWVLS"
FT INIT-CODON 23..25
FT V-D-J-C-REGION 80..961
FT /translation="QVHLQESGPGLGKPPELKTPLGDTTHTCPRCPEPKSCDTPP
FT PCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPXCPAPELLGGPSVFLFPPKPKD
FT TLMISRTPEVTCVVVDVSHEDPXVQFKWYVDGVEVHNAKTKLREEQYNSTFRVVS
FT VLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPXXXXXXXXXXXXEEMT
FT KNQVSLTCLVKGFYPSDIAVEWESNGQPENNYNTTPPMLDSDGSFFLYSKLTVDK
FT SRWQQGNIFSCSVMHEALHNRYTQKSLSLSPGK"
FT /note="deletion of the V region and CH1 domain"
FT V-REGION 80..124
FT /translation="QVHLQESGPGLGKPP"
FT /note="deletion of the V region"
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
//