P01860 (IGHG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ig gamma-3 chain C region

Alternative name(s):
HDC
Heavy chain disease protein

Gene names

Name:

IGHG3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	377 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Dimer linked by 12 disulfide bonds; it has an extra interchain disulfide bond at position 7 in addition to the 11 normally present in the hinge region.
Subcellular location	Secreted.
Miscellaneous	Disease protein WIS is lacking most of the V region and all of the CH1 region. Disease protein ZUC lack most of the V region, all of the CH1 region, and part of the hinge compared with normal gamma-3 heavy chains. Disease protein OMM may represent an allelic form or another gamma chain subclass. The hinge region in gamma-3 chains is about four times as long as in other gamma chains and contains three identical 15-residue segments preceded by a similar 17-residue segment (12-28).
Sequence caution	The sequence CAA27268.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Domain	Immunoglobulin C region Immunoglobulin domain Repeat
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	immune response Non-traceable author statement. Source: UniProtKB
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Non-traceable author statement. Source: UniProtKB
Molecular function	antigen binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 377	377	Ig gamma-3 chain C region		PRO_0000153580
Regions
	Repeat	116 – 130	15
	Repeat	131 – 145	15
	Repeat	146 – 160	15
	Region	1 – 98	98	CH1
	Region	99 – 160	62	Hinge
	Region	161 – 270	110	CH2
	Region	271 – 376	106	CH3
Amino acid modifications
	Glycosylation	227	1	N-linked (GlcNAc...) Ref.8 Ref.9
	Glycosylation	322	1	N-linked (GlcNAc...) Ref.8
	Disulfide bond	111		Interchain (with heavy chain dimer)
	Disulfide bond	114		Interchain (with heavy chain dimer)
	Disulfide bond	120		Interchain (with heavy chain dimer)
	Disulfide bond	126		Interchain (with heavy chain dimer)
	Disulfide bond	129		Interchain (with heavy chain dimer)
	Disulfide bond	135		Interchain (with heavy chain dimer)
	Disulfide bond	141		Interchain (with heavy chain dimer)
	Disulfide bond	144		Interchain (with heavy chain dimer)
	Disulfide bond	150		Interchain (with heavy chain dimer)
	Disulfide bond	156		Interchain (with heavy chain dimer)
	Disulfide bond	159		Interchain (with heavy chain dimer)
Natural variations
	Natural variant	214	1	V → B in ZUC.		VAR_003890
	Natural variant	221	1	P → L in OMM.		VAR_003891
	Natural variant	226	1	Y → F in ZUC.		VAR_003892
	Natural variant	269	1	T → A in OMM.		VAR_003893
	Natural variant	314	1	S → N in OMM.		VAR_003894
	Natural variant	314	1	Missing in ZUC.		VAR_003895
	Natural variant	366	1	F → Y in OMM.		VAR_003896
Experimental info
	Sequence conflict	213	1	E → Q AA sequence Ref.3
	Sequence conflict	224	1	E → Q AA sequence Ref.3
	Sequence conflict	242	1	D → N AA sequence Ref.3
	Sequence conflict	245	1	N → D AA sequence Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P01860 [UniParc]. Last modified July 1, 2008. Version 2. Checksum: FEB7F537953F807F	FASTA	377	41,287
	10 20 30 40 50 60 ASTKGPSVFP LAPCSRSTSG GTAALGCLVK DYFPEPVTVS WNSGALTSGV HTFPAVLQSS 70 80 90 100 110 120 GLYSLSSVVT VPSSSLGTQT YTCNVNHKPS NTKVDKRVEL KTPLGDTTHT CPRCPEPKSC 130 140 150 160 170 180 DTPPPCPRCP EPKSCDTPPP CPRCPEPKSC DTPPPCPRCP APELLGGPSV FLFPPKPKDT 190 200 210 220 230 240 LMISRTPEVT CVVVDVSHED PEVQFKWYVD GVEVHNAKTK PREEQYNSTF RVVSVLTVLH 250 260 270 280 290 300 QDWLNGKEYK CKVSNKALPA PIEKTISKTK GQPREPQVYT LPPSREEMTK NQVSLTCLVK 310 320 330 340 350 360 GFYPSDIAVE WESSGQPENN YNTTPPMLDS DGSFFLYSKL TVDKSRWQQG NIFSCSVMHE 370 ALHNRFTQKS LSLSPGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sequence of a human immunoglobulin gamma 3 heavy chain constant region gene: comparison with the other human C gamma genes." Huck S., Fort P., Crawford D.H., Lefranc M.-P., Lefranc G. Nucleic Acids Res. 14:1779-1789(1986) [PubMed: 3081877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed: 12508121] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Primary structure of human gamma 3 immunoglobulin deletion mutant: gamma 3 heavy-chain disease protein Wis." Frangione B., Rosenwasser E., Prelli F., Franklin E.C. Biochemistry 19:4304-4308(1980) [PubMed: 6774747] [Abstract] Cited for: PROTEIN SEQUENCE (DISEASE PROTEIN WIS).
[4]	"Primary structure of the 'hinge' region of human IgG3. Probable quadruplication of a 15-amino acid residue basic unit." Michaelsen T.E., Frangione B., Franklin E.C. J. Biol. Chem. 252:883-889(1977) [PubMed: 402363] [Abstract] Cited for: SEQUENCE REVISION TO 146-376 (PROTEIN WIS/DISEASE PROTEIN ZUC).
[5]	"The amino acid sequence of 'heavy chain disease' protein ZUC. Structure of the Fc fragment of immunoglobulin G3." Wolfenstein-Todel C., Frangione B., Prelli F., Franklin E.C. Biochem. Biophys. Res. Commun. 71:907-914(1976) [PubMed: 823945] [Abstract] Cited for: SEQUENCE REVISION TO 59-289 (PROTEIN WIS/DISEASE PROTEIN ZUC).
[6]	"Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model." Alexander A., Steinmetz M., Barritault D., Frangione B., Franklin E.C., Hood L., Buxbaum J.N. Proc. Natl. Acad. Sci. U.S.A. 79:3260-3264(1982) [PubMed: 6808505] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-377 (DISEASE PROTEIN OMM).
[7]	"Structure of human immunoglobulin gamma genes: implications for evolution of a gene family." Takahashi N., Ueda S., Obata M., Nikaido T., Nakai S., Honjo T. Cell 29:671-679(1982) [PubMed: 6811139] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 48-59.
[8]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227 AND ASN-322, MASS SPECTROMETRY. Tissue: Plasma.
[9]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-227, MASS SPECTROMETRY. Tissue: Liver.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

IMGT/GENE-DB

Cross-references

Sequence databases
EMBL GenBank DDBJ	X03604 Genomic DNA. Translation: CAA27268.1. Different initiation. AL122127 Genomic DNA. No translation available. J00231 mRNA. Translation: AAA52805.1. Sequence problems.
IPI	IPI00973474.
PIR	A23511. G3HUWI. A90442.
UniGene	Hs.510635.
3D structure databases
ProteinModelPortal	P01860.
SMR	P01860. Positions 1-377.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1135282.
STRING	P01860.
Protein family/group databases
IMGT	Search... Search... Search...
Polymorphism databases
DMDM	193806361.
2D gel databases
UCD-2DPAGE	P01860.
Proteomic databases
PRIDE	P01860.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Organism-specific databases
GeneCards	GC14M106231.
H-InvDB	HIX0012029.
HGNC	HGNC:5527. IGHG3.
MIM	147120. gene.
neXtProt	NX_P01860.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10023.
HOVERGEN	HBG005814.
Enzyme and pathway databases
Pathway_Interaction_DB	il4_2pathway. IL4-mediated signaling events.
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	P01860.
Genevestigator	P01860.
GermOnline	ENSG00000130076. Homo sapiens.
Family and domain databases
InterPro	IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR003006. Ig/MHC_CS. IPR003597. Ig_C1-set. [Graphical view]
Gene3D	G3DSA:2.60.40.10. Ig-like_fold. 3 hits.
Pfam	PF07654. C1-set. 3 hits. [Graphical view]
SMART	SM00407. IGc1. 2 hits. [Graphical view]
PROSITE	PS50835. IG_LIKE. 3 hits. PS00290. IG_MHC. 2 hits. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

IGHG3_HUMAN

Accession

Primary (citable) accession number: P01860
Secondary accession number(s): A2NU35

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	July 1, 2008
Last modified:	January 25, 2012
This is version 109 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.