Full text data of IGHG3
IGHG3
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Ig gamma-3 chain C region (HDC; Heavy chain disease protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Ig gamma-3 chain C region (HDC; Heavy chain disease protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P01860
ID IGHG3_HUMAN Reviewed; 377 AA.
AC P01860; A2NU35;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUL-2008, sequence version 2.
DT 22-JAN-2014, entry version 124.
DE RecName: Full=Ig gamma-3 chain C region;
DE AltName: Full=HDC;
DE AltName: Full=Heavy chain disease protein;
GN Name=IGHG3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3081877; DOI=10.1093/nar/14.4.1779;
RA Huck S., Fort P., Crawford D.H., Lefranc M.-P., Lefranc G.;
RT "Sequence of a human immunoglobulin gamma 3 heavy chain constant
RT region gene: comparison with the other human C gamma genes.";
RL Nucleic Acids Res. 14:1779-1789(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA Quetier F., Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP PROTEIN SEQUENCE (VARIANT WIS), AND SUBUNIT.
RX PubMed=6774747; DOI=10.1021/bi00559a024;
RA Frangione B., Rosenwasser E., Prelli F., Franklin E.C.;
RT "Primary structure of human gamma 3 immunoglobulin deletion mutant:
RT gamma 3 heavy-chain disease protein Wis.";
RL Biochemistry 19:4304-4308(1980).
RN [4]
RP SEQUENCE REVISION TO 146-376 (VARIANT WIS/VARIANT ZUC).
RX PubMed=402363;
RA Michaelsen T.E., Frangione B., Franklin E.C.;
RT "Primary structure of the 'hinge' region of human IgG3. Probable
RT quadruplication of a 15-amino acid residue basic unit.";
RL J. Biol. Chem. 252:883-889(1977).
RN [5]
RP SEQUENCE REVISION TO 59-289 (VARIANT WIS/VARIANT ZUC).
RX PubMed=823945; DOI=10.1016/0006-291X(76)90741-5;
RA Wolfenstein-Todel C., Frangione B., Prelli F., Franklin E.C.;
RT "The amino acid sequence of 'heavy chain disease' protein ZUC.
RT Structure of the Fc fragment of immunoglobulin G3.";
RL Biochem. Biophys. Res. Commun. 71:907-914(1976).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 99-377 (VARIANT OMM).
RX PubMed=6808505; DOI=10.1073/pnas.79.10.3260;
RA Alexander A., Steinmetz M., Barritault D., Frangione B.,
RA Franklin E.C., 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. 79:3260-3264(1982).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 48-59.
RX PubMed=6811139; DOI=10.1016/0092-8674(82)90183-0;
RA Takahashi N., Ueda S., Obata M., Nikaido T., Nakai S., Honjo T.;
RT "Structure of human immunoglobulin gamma genes: implications for
RT evolution of a gene family.";
RL Cell 29:671-679(1982).
RN [8]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227 AND ASN-322, AND MASS
RP SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [9]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
CC -!- SUBUNIT: Homodimer.
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- POLYMORPHISM: The IGHG3 gene shows a structural polymorphism
CC characterized by different hinge lengths. Variant WIS is lacking
CC most of the V region and all of the CH1 region. It has an extra
CC interchain disulfide bond at position 7 in addition to the 11
CC normally present in the hinge region. Variant ZUC lacks most of
CC the V region, all of the CH1 region, and part of the hinge.
CC Variant OMM may represent an allelic form or another gamma chain
CC subclass.
CC -!- MISCELLANEOUS: The hinge region in gamma-3 chains is about 4 times
CC as long as in other gamma chains and contains 3 identical 15-
CC residue segments preceded by a similar 17-residue segment (12-28).
CC -!- WEB RESOURCE: Name=IMGT/GENE-DB;
CC URL="http://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHG3&species;=Homo+sapiens";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X03604; CAA27268.1; -; Genomic_DNA.
DR EMBL; AL122127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; J00231; AAA52805.1; ALT_SEQ; mRNA.
DR PIR; A23511; A23511.
DR PIR; A90442; G3HUWI.
DR UniGene; Hs.510635; -.
DR ProteinModelPortal; P01860; -.
DR SMR; P01860; 1-377.
DR MINT; MINT-1135282; -.
DR STRING; 9606.ENSP00000374992; -.
DR DMDM; 193806361; -.
DR UCD-2DPAGE; P01860; -.
DR PaxDb; P01860; -.
DR PRIDE; P01860; -.
DR GeneCards; GC14M106231; -.
DR HGNC; HGNC:5527; IGHG3.
DR MIM; 147120; gene.
DR neXtProt; NX_P01860; -.
DR eggNOG; NOG313034; -.
DR HOVERGEN; HBG005814; -.
DR Reactome; REACT_6900; Immune System.
DR PRO; PR:P01860; -.
DR Genevestigator; P01860; -.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0016020; C:membrane; NAS:UniProtKB.
DR GO; GO:0003823; F:antigen binding; IEA:UniProtKB-KW.
DR GO; GO:0006958; P:complement activation, classical pathway; TAS:Reactome.
DR GO; GO:0038096; P:Fc-gamma receptor signaling pathway involved in phagocytosis; TAS:Reactome.
DR GO; GO:0045087; P:innate immune response; TAS:Reactome.
DR Gene3D; 2.60.40.10; -; 3.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003006; Ig/MHC_CS.
DR InterPro; IPR003597; Ig_C1-set.
DR Pfam; PF07654; C1-set; 3.
DR SMART; SM00407; IGc1; 2.
DR PROSITE; PS50835; IG_LIKE; 3.
DR PROSITE; PS00290; IG_MHC; 2.
PE 1: Evidence at protein level;
KW Complete proteome; Direct protein sequencing; Disulfide bond;
KW Glycoprotein; Immunoglobulin C region; Immunoglobulin domain;
KW Polymorphism; Reference proteome; Repeat; Secreted.
FT CHAIN 1 377 Ig gamma-3 chain C region.
FT /FTId=PRO_0000153580.
FT REPEAT 116 130
FT REPEAT 131 145
FT REPEAT 146 160
FT REGION 1 98 CH1.
FT REGION 99 160 Hinge.
FT REGION 161 270 CH2.
FT REGION 271 376 CH3.
FT CARBOHYD 227 227 N-linked (GlcNAc...).
FT CARBOHYD 322 322 N-linked (GlcNAc...).
FT DISULFID 27 83
FT DISULFID 111 111 Interchain (with heavy chain dimer).
FT DISULFID 114 114 Interchain (with heavy chain dimer).
FT DISULFID 120 120 Interchain (with heavy chain dimer).
FT DISULFID 126 126 Interchain (with heavy chain dimer).
FT DISULFID 129 129 Interchain (with heavy chain dimer).
FT DISULFID 135 135 Interchain (with heavy chain dimer).
FT DISULFID 141 141 Interchain (with heavy chain dimer).
FT DISULFID 144 144 Interchain (with heavy chain dimer).
FT DISULFID 150 150 Interchain (with heavy chain dimer).
FT DISULFID 156 156 Interchain (with heavy chain dimer).
FT DISULFID 159 159 Interchain (with heavy chain dimer).
FT VARIANT 1 76 Missing (in variant WIS).
FT /FTId=VAR_068695.
FT VARIANT 77 98 GTQTYTCNVNHKPSNTKVDKRV -> QMQGVNCTVSS (in
FT variant WIS).
FT /FTId=VAR_068696.
FT VARIANT 213 213 E -> Q (in variant WIS).
FT /FTId=VAR_068697.
FT VARIANT 214 214 V -> B (in variant ZUC).
FT /FTId=VAR_003890.
FT VARIANT 221 221 P -> L (in variant OMM).
FT /FTId=VAR_003891.
FT VARIANT 224 224 E -> Q (in variant WIS).
FT /FTId=VAR_068698.
FT VARIANT 226 226 Y -> F (in variant ZUC and WIS).
FT /FTId=VAR_003892.
FT VARIANT 242 242 D -> N (in variant WIS).
FT /FTId=VAR_068699.
FT VARIANT 245 245 N -> D (in variant WIS).
FT /FTId=VAR_068700.
FT VARIANT 269 269 T -> A (in variant OMM).
FT /FTId=VAR_003893.
FT VARIANT 314 314 S -> N (in variant OMM).
FT /FTId=VAR_003894.
FT VARIANT 314 314 Missing (in variant ZUC).
FT /FTId=VAR_003895.
FT VARIANT 366 366 F -> Y (in variant OMM).
FT /FTId=VAR_003896.
SQ SEQUENCE 377 AA; 41287 MW; FEB7F537953F807F CRC64;
ASTKGPSVFP LAPCSRSTSG GTAALGCLVK DYFPEPVTVS WNSGALTSGV HTFPAVLQSS
GLYSLSSVVT VPSSSLGTQT YTCNVNHKPS NTKVDKRVEL KTPLGDTTHT CPRCPEPKSC
DTPPPCPRCP EPKSCDTPPP CPRCPEPKSC DTPPPCPRCP APELLGGPSV FLFPPKPKDT
LMISRTPEVT CVVVDVSHED PEVQFKWYVD GVEVHNAKTK PREEQYNSTF RVVSVLTVLH
QDWLNGKEYK CKVSNKALPA PIEKTISKTK GQPREPQVYT LPPSREEMTK NQVSLTCLVK
GFYPSDIAVE WESSGQPENN YNTTPPMLDS DGSFFLYSKL TVDKSRWQQG NIFSCSVMHE
ALHNRFTQKS LSLSPGK
//
ID IGHG3_HUMAN Reviewed; 377 AA.
AC P01860; A2NU35;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JUL-2008, sequence version 2.
DT 22-JAN-2014, entry version 124.
DE RecName: Full=Ig gamma-3 chain C region;
DE AltName: Full=HDC;
DE AltName: Full=Heavy chain disease protein;
GN Name=IGHG3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3081877; DOI=10.1093/nar/14.4.1779;
RA Huck S., Fort P., Crawford D.H., Lefranc M.-P., Lefranc G.;
RT "Sequence of a human immunoglobulin gamma 3 heavy chain constant
RT region gene: comparison with the other human C gamma genes.";
RL Nucleic Acids Res. 14:1779-1789(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA Quetier F., Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP PROTEIN SEQUENCE (VARIANT WIS), AND SUBUNIT.
RX PubMed=6774747; DOI=10.1021/bi00559a024;
RA Frangione B., Rosenwasser E., Prelli F., Franklin E.C.;
RT "Primary structure of human gamma 3 immunoglobulin deletion mutant:
RT gamma 3 heavy-chain disease protein Wis.";
RL Biochemistry 19:4304-4308(1980).
RN [4]
RP SEQUENCE REVISION TO 146-376 (VARIANT WIS/VARIANT ZUC).
RX PubMed=402363;
RA Michaelsen T.E., Frangione B., Franklin E.C.;
RT "Primary structure of the 'hinge' region of human IgG3. Probable
RT quadruplication of a 15-amino acid residue basic unit.";
RL J. Biol. Chem. 252:883-889(1977).
RN [5]
RP SEQUENCE REVISION TO 59-289 (VARIANT WIS/VARIANT ZUC).
RX PubMed=823945; DOI=10.1016/0006-291X(76)90741-5;
RA Wolfenstein-Todel C., Frangione B., Prelli F., Franklin E.C.;
RT "The amino acid sequence of 'heavy chain disease' protein ZUC.
RT Structure of the Fc fragment of immunoglobulin G3.";
RL Biochem. Biophys. Res. Commun. 71:907-914(1976).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 99-377 (VARIANT OMM).
RX PubMed=6808505; DOI=10.1073/pnas.79.10.3260;
RA Alexander A., Steinmetz M., Barritault D., Frangione B.,
RA Franklin E.C., 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. 79:3260-3264(1982).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 48-59.
RX PubMed=6811139; DOI=10.1016/0092-8674(82)90183-0;
RA Takahashi N., Ueda S., Obata M., Nikaido T., Nakai S., Honjo T.;
RT "Structure of human immunoglobulin gamma genes: implications for
RT evolution of a gene family.";
RL Cell 29:671-679(1982).
RN [8]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227 AND ASN-322, AND MASS
RP SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [9]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
CC -!- SUBUNIT: Homodimer.
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- POLYMORPHISM: The IGHG3 gene shows a structural polymorphism
CC characterized by different hinge lengths. Variant WIS is lacking
CC most of the V region and all of the CH1 region. It has an extra
CC interchain disulfide bond at position 7 in addition to the 11
CC normally present in the hinge region. Variant ZUC lacks most of
CC the V region, all of the CH1 region, and part of the hinge.
CC Variant OMM may represent an allelic form or another gamma chain
CC subclass.
CC -!- MISCELLANEOUS: The hinge region in gamma-3 chains is about 4 times
CC as long as in other gamma chains and contains 3 identical 15-
CC residue segments preceded by a similar 17-residue segment (12-28).
CC -!- WEB RESOURCE: Name=IMGT/GENE-DB;
CC URL="http://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHG3&species;=Homo+sapiens";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X03604; CAA27268.1; -; Genomic_DNA.
DR EMBL; AL122127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; J00231; AAA52805.1; ALT_SEQ; mRNA.
DR PIR; A23511; A23511.
DR PIR; A90442; G3HUWI.
DR UniGene; Hs.510635; -.
DR ProteinModelPortal; P01860; -.
DR SMR; P01860; 1-377.
DR MINT; MINT-1135282; -.
DR STRING; 9606.ENSP00000374992; -.
DR DMDM; 193806361; -.
DR UCD-2DPAGE; P01860; -.
DR PaxDb; P01860; -.
DR PRIDE; P01860; -.
DR GeneCards; GC14M106231; -.
DR HGNC; HGNC:5527; IGHG3.
DR MIM; 147120; gene.
DR neXtProt; NX_P01860; -.
DR eggNOG; NOG313034; -.
DR HOVERGEN; HBG005814; -.
DR Reactome; REACT_6900; Immune System.
DR PRO; PR:P01860; -.
DR Genevestigator; P01860; -.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0016020; C:membrane; NAS:UniProtKB.
DR GO; GO:0003823; F:antigen binding; IEA:UniProtKB-KW.
DR GO; GO:0006958; P:complement activation, classical pathway; TAS:Reactome.
DR GO; GO:0038096; P:Fc-gamma receptor signaling pathway involved in phagocytosis; TAS:Reactome.
DR GO; GO:0045087; P:innate immune response; TAS:Reactome.
DR Gene3D; 2.60.40.10; -; 3.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003006; Ig/MHC_CS.
DR InterPro; IPR003597; Ig_C1-set.
DR Pfam; PF07654; C1-set; 3.
DR SMART; SM00407; IGc1; 2.
DR PROSITE; PS50835; IG_LIKE; 3.
DR PROSITE; PS00290; IG_MHC; 2.
PE 1: Evidence at protein level;
KW Complete proteome; Direct protein sequencing; Disulfide bond;
KW Glycoprotein; Immunoglobulin C region; Immunoglobulin domain;
KW Polymorphism; Reference proteome; Repeat; Secreted.
FT CHAIN 1 377 Ig gamma-3 chain C region.
FT /FTId=PRO_0000153580.
FT REPEAT 116 130
FT REPEAT 131 145
FT REPEAT 146 160
FT REGION 1 98 CH1.
FT REGION 99 160 Hinge.
FT REGION 161 270 CH2.
FT REGION 271 376 CH3.
FT CARBOHYD 227 227 N-linked (GlcNAc...).
FT CARBOHYD 322 322 N-linked (GlcNAc...).
FT DISULFID 27 83
FT DISULFID 111 111 Interchain (with heavy chain dimer).
FT DISULFID 114 114 Interchain (with heavy chain dimer).
FT DISULFID 120 120 Interchain (with heavy chain dimer).
FT DISULFID 126 126 Interchain (with heavy chain dimer).
FT DISULFID 129 129 Interchain (with heavy chain dimer).
FT DISULFID 135 135 Interchain (with heavy chain dimer).
FT DISULFID 141 141 Interchain (with heavy chain dimer).
FT DISULFID 144 144 Interchain (with heavy chain dimer).
FT DISULFID 150 150 Interchain (with heavy chain dimer).
FT DISULFID 156 156 Interchain (with heavy chain dimer).
FT DISULFID 159 159 Interchain (with heavy chain dimer).
FT VARIANT 1 76 Missing (in variant WIS).
FT /FTId=VAR_068695.
FT VARIANT 77 98 GTQTYTCNVNHKPSNTKVDKRV -> QMQGVNCTVSS (in
FT variant WIS).
FT /FTId=VAR_068696.
FT VARIANT 213 213 E -> Q (in variant WIS).
FT /FTId=VAR_068697.
FT VARIANT 214 214 V -> B (in variant ZUC).
FT /FTId=VAR_003890.
FT VARIANT 221 221 P -> L (in variant OMM).
FT /FTId=VAR_003891.
FT VARIANT 224 224 E -> Q (in variant WIS).
FT /FTId=VAR_068698.
FT VARIANT 226 226 Y -> F (in variant ZUC and WIS).
FT /FTId=VAR_003892.
FT VARIANT 242 242 D -> N (in variant WIS).
FT /FTId=VAR_068699.
FT VARIANT 245 245 N -> D (in variant WIS).
FT /FTId=VAR_068700.
FT VARIANT 269 269 T -> A (in variant OMM).
FT /FTId=VAR_003893.
FT VARIANT 314 314 S -> N (in variant OMM).
FT /FTId=VAR_003894.
FT VARIANT 314 314 Missing (in variant ZUC).
FT /FTId=VAR_003895.
FT VARIANT 366 366 F -> Y (in variant OMM).
FT /FTId=VAR_003896.
SQ SEQUENCE 377 AA; 41287 MW; FEB7F537953F807F CRC64;
ASTKGPSVFP LAPCSRSTSG GTAALGCLVK DYFPEPVTVS WNSGALTSGV HTFPAVLQSS
GLYSLSSVVT VPSSSLGTQT YTCNVNHKPS NTKVDKRVEL KTPLGDTTHT CPRCPEPKSC
DTPPPCPRCP EPKSCDTPPP CPRCPEPKSC DTPPPCPRCP APELLGGPSV FLFPPKPKDT
LMISRTPEVT CVVVDVSHED PEVQFKWYVD GVEVHNAKTK PREEQYNSTF RVVSVLTVLH
QDWLNGKEYK CKVSNKALPA PIEKTISKTK GQPREPQVYT LPPSREEMTK NQVSLTCLVK
GFYPSDIAVE WESSGQPENN YNTTPPMLDS DGSFFLYSKL TVDKSRWQQG NIFSCSVMHE
ALHNRFTQKS LSLSPGK
//
MIM
147120
*RECORD*
*FIELD* NO
147120
*FIELD* TI
*147120 IMMUNOGLOBULIN Gm3; IGHG3
*FIELD* TX
See 147100. Heavy chain disease (HCD) is a naturally occurring
read morelymphoproliferative disease in which variant monoclonal Ig heavy (H)
chain fragments are found in serum or urine. Alexander et al. (1982)
showed that the gene for the gamma-3 chain had undergone extensive
NH(2)-terminal deletion. Cases of HCD involving immunoglobulins of the
alpha and mu classes have also been described. Huck et al. (1986) cited
several studies as yielding the following information on intervals
between the several constant region genes of the heavy chains on
chromosome 14: (qter) 5-prime--CM--4.5 kb--CD--CG3--26 kb--CG1--19
kb--CEP1--13 kb--CA1--CGP--CG2--18 kb--CG4--23 kb--CE--10
kb--CA2--3-prime (centromere). Huck et al. (1986) sequenced the CG3 gene
from a member of the Tunisian family known to be homozygous for the
G3m(b) allotypes. Alexander et al. (1988) pointed out that HCD proteins
of 4 of the 5 immunoglobulin classes (mu, delta, gamma, and alpha) had
been described. By studying a genomic clone isolated from a human
lymphoid cell line of a patient with HCD protein of the gamma-3
subclass, Alexander et al. (1988) demonstrated that the aberrant serum
protein was the product of 2 noncontiguous deletions in the gene and a
splice correction, as well as postsynthetic NH(2)-terminal proteolysis.
*FIELD* SA
Lefranc et al. (1979)
*FIELD* RF
1. Alexander, A.; Anicito, I.; Buxbaum, J.: Gamma heavy chain disease
in man: genomic sequence reveals two noncontiguous deletions in a
single gene. J. Clin. Invest. 82: 1244-1252, 1988.
2. Alexander, A.; Steinmetz, M.; Barritault, D.; Frangione, B.; Franklin,
E. C.; Hood, L.; Buxbaum, J. N.: Gamma heavy chain disease in man:
cDNA sequence supports partial gene deletion model. Proc. Nat. Acad.
Sci. 79: 3260-3264, 1982.
3. Huck, S.; Fort, P.; Crawford, D. H.; Lefranc, M.-P.; Lefranc, G.
: Sequence of a human immunoglobulin gamma 3 heavy chain constant
region gene: comparison with the other human C-gamma genes. Nucleic
Acids Res. 14: 1779-1789, 1986.
4. Lefranc, G.; Dumitresco, S.-M.; Salier, J.-P.; Rivat, L.; De Lange,
G.; Van Loghem, E.; Loiselet, J.: Familial lack of the IgG 3 subclass:
gene elimination on turning off expression and neutral evolution in
the immune system. J. Immunogenet. 6: 215-221, 1979.
*FIELD* CD
Victor A. McKusick: 6/2/1986
*FIELD* ED
terry: 04/14/2000
dkim: 7/2/1998
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
root: 10/31/1988
marie: 3/25/1988
root: 2/28/1988
*RECORD*
*FIELD* NO
147120
*FIELD* TI
*147120 IMMUNOGLOBULIN Gm3; IGHG3
*FIELD* TX
See 147100. Heavy chain disease (HCD) is a naturally occurring
read morelymphoproliferative disease in which variant monoclonal Ig heavy (H)
chain fragments are found in serum or urine. Alexander et al. (1982)
showed that the gene for the gamma-3 chain had undergone extensive
NH(2)-terminal deletion. Cases of HCD involving immunoglobulins of the
alpha and mu classes have also been described. Huck et al. (1986) cited
several studies as yielding the following information on intervals
between the several constant region genes of the heavy chains on
chromosome 14: (qter) 5-prime--CM--4.5 kb--CD--CG3--26 kb--CG1--19
kb--CEP1--13 kb--CA1--CGP--CG2--18 kb--CG4--23 kb--CE--10
kb--CA2--3-prime (centromere). Huck et al. (1986) sequenced the CG3 gene
from a member of the Tunisian family known to be homozygous for the
G3m(b) allotypes. Alexander et al. (1988) pointed out that HCD proteins
of 4 of the 5 immunoglobulin classes (mu, delta, gamma, and alpha) had
been described. By studying a genomic clone isolated from a human
lymphoid cell line of a patient with HCD protein of the gamma-3
subclass, Alexander et al. (1988) demonstrated that the aberrant serum
protein was the product of 2 noncontiguous deletions in the gene and a
splice correction, as well as postsynthetic NH(2)-terminal proteolysis.
*FIELD* SA
Lefranc et al. (1979)
*FIELD* RF
1. Alexander, A.; Anicito, I.; Buxbaum, J.: Gamma heavy chain disease
in man: genomic sequence reveals two noncontiguous deletions in a
single gene. J. Clin. Invest. 82: 1244-1252, 1988.
2. Alexander, A.; Steinmetz, M.; Barritault, D.; Frangione, B.; Franklin,
E. C.; Hood, L.; Buxbaum, J. N.: Gamma heavy chain disease in man:
cDNA sequence supports partial gene deletion model. Proc. Nat. Acad.
Sci. 79: 3260-3264, 1982.
3. Huck, S.; Fort, P.; Crawford, D. H.; Lefranc, M.-P.; Lefranc, G.
: Sequence of a human immunoglobulin gamma 3 heavy chain constant
region gene: comparison with the other human C-gamma genes. Nucleic
Acids Res. 14: 1779-1789, 1986.
4. Lefranc, G.; Dumitresco, S.-M.; Salier, J.-P.; Rivat, L.; De Lange,
G.; Van Loghem, E.; Loiselet, J.: Familial lack of the IgG 3 subclass:
gene elimination on turning off expression and neutral evolution in
the immune system. J. Immunogenet. 6: 215-221, 1979.
*FIELD* CD
Victor A. McKusick: 6/2/1986
*FIELD* ED
terry: 04/14/2000
dkim: 7/2/1998
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
root: 10/31/1988
marie: 3/25/1988
root: 2/28/1988