UniProtKB - P01763 (HV348_HUMAN)
Protein
Immunoglobulin heavy variable 3-48
Gene
IGHV3-48
Organism
Homo sapiens (Human)
Status
Functioni
V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).4 Publications
Caution
For examples of full-length immunoglobulin heavy chains (of different isotypes) see AC P0DOX2, AC P0DOX3, AC P0DOX4, AC P0DOX5 and AC P0DOX6.Curated
GO - Molecular functioni
- antigen binding Source: GO_Central
- immunoglobulin receptor binding Source: GO_Central
GO - Biological processi
- B cell receptor signaling pathway Source: GO_Central
- complement activation Source: Reactome
- complement activation, classical pathway Source: GO_Central
- defense response to bacterium Source: GO_Central
- Fc-epsilon receptor signaling pathway Source: Reactome
- Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
- immune response Source: UniProtKB
- innate immune response Source: GO_Central
- leukocyte migration Source: Reactome
- phagocytosis, engulfment Source: GO_Central
- phagocytosis, recognition Source: GO_Central
- positive regulation of B cell activation Source: GO_Central
- receptor-mediated endocytosis Source: Reactome
- regulation of complement activation Source: Reactome
- regulation of immune response Source: Reactome
Keywordsi
Biological process | Adaptive immunity, Immunity |
Enzyme and pathway databases
PathwayCommonsi | P01763 |
Reactomei | R-HSA-166663, Initial triggering of complement R-HSA-173623, Classical antibody-mediated complement activation R-HSA-198933, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-202733, Cell surface interactions at the vascular wall R-HSA-2029481, FCGR activation R-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation R-HSA-2029485, Role of phospholipids in phagocytosis R-HSA-2168880, Scavenging of heme from plasma R-HSA-2454202, Fc epsilon receptor (FCERI) signaling R-HSA-2730905, Role of LAT2/NTAL/LAB on calcium mobilization R-HSA-2871796, FCERI mediated MAPK activation R-HSA-2871809, FCERI mediated Ca+2 mobilization R-HSA-2871837, FCERI mediated NF-kB activation R-HSA-5690714, CD22 mediated BCR regulation R-HSA-9664323, FCGR3A-mediated IL10 synthesis R-HSA-9664422, FCGR3A-mediated phagocytosis R-HSA-977606, Regulation of Complement cascade R-HSA-983695, Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
Protein family/group databases
IMGT/GENE-DB | IGHV3-48 |
Names & Taxonomyi
Protein namesi | Recommended name: Immunoglobulin heavy variable 3-482 PublicationsAlternative name(s): Ig heavy chain V-III region WEA1 Publication |
Gene namesi | Name:IGHV3-482 Publications |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000211964.3 |
HGNCi | HGNC:5606, IGHV3-48 |
neXtProti | NX_P01763 |
Subcellular locationi
Extracellular region or secreted
- Secreted 2 Publications
Plasma membrane
- Cell membrane 2 Publications
Extracellular region or secreted
- extracellular region Source: Reactome
- immunoglobulin complex, circulating Source: GO_Central
Plasma Membrane
- external side of plasma membrane Source: GO_Central
- plasma membrane Source: Reactome
Keywords - Cellular componenti
Cell membrane, Immunoglobulin, Membrane, SecretedPathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000211964 |
Miscellaneous databases
Pharosi | P01763, Tdark |
Polymorphism and mutation databases
BioMutai | IGHV3-48 |
DMDMi | 123842 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | 1 PublicationAdd BLAST | 19 | |
ChainiPRO_0000059915 | 20 – 117 | Immunoglobulin heavy variable 3-481 PublicationAdd BLAST | 98 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 41 ↔ 115 | PROSITE-ProRule annotation |
Post-translational modificationi
The N-terminus is blocked.1 Publication
Keywords - PTMi
Disulfide bondProteomic databases
jPOSTi | P01763 |
MassIVEi | P01763 |
PeptideAtlasi | P01763 |
PRIDEi | P01763 |
ProteomicsDBi | 51462 |
Expressioni
Gene expression databases
Bgeei | ENSG00000211964, Expressed in tonsil and 98 other tissues |
Interactioni
Subunit structurei
Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
1 PublicationGO - Molecular functioni
- immunoglobulin receptor binding Source: GO_Central
Protein-protein interaction databases
IntActi | P01763, 1 interactor |
Miscellaneous databases
RNActi | P01763, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 20 – ›117 | Ig-likePROSITE-ProRule annotationAdd BLAST | ›98 |
Keywords - Domaini
Immunoglobulin domain, SignalPhylogenomic databases
GeneTreei | ENSGT01010000222417 |
OMAi | FSNYDMN |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013106, Ig_V-set |
Pfami | View protein in Pfam PF07686, V-set, 1 hit |
SMARTi | View protein in SMART SM00406, IGv, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P01763-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MELGLCWVFL VAILEGVQCE VQLVESGGGL VQPGGSLRLS CAASGFTFSS
60 70 80 90 100
YEMNWVRQAP GKGLEWVSYI SSSGSTIYYA DSVKGRFTIS RDNAKNSLYL
110
QMNSLRAEDT AVYYCAR
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 20 | E → Q AA sequence (PubMed:6410398).Curated | 1 | |
Sequence conflicti | 25 | E → D AA sequence (PubMed:6410398).Curated | 1 | |
Sequence conflicti | 32 | Q → E AA sequence (PubMed:6410398).Curated | 1 | |
Sequence conflicti | 42 | A → S AA sequence (PubMed:6410398).Curated | 1 | |
Sequence conflicti | 50 – 52 | SYE → AND AA sequence (PubMed:6410398).Curated | 3 | |
Sequence conflicti | 67 – 72 | VSYISS → LSFIGG AA sequence (PubMed:6410398).Curated | 6 | |
Sequence conflicti | 92 – 94 | DNA → NBS AA sequence (PubMed:6410398).Curated | 3 | |
Sequence conflicti | 103 | N → S AA sequence (PubMed:6410398).Curated | 1 | |
Non-terminal residuei | 117 | 1 |
Polymorphismi
There are several alleles. The sequence shown is that of IMGT allele IGHV3-48*03.Curated
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC244452 Genomic DNA No translation available. |
PIRi | A02046, M3HUWE |
Genome annotation databases
Ensembli | ENST00000390624; ENSP00000375033; ENSG00000211964 ENST00000632296; ENSP00000487990; ENSG00000282627 |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC244452 Genomic DNA No translation available. |
PIRi | A02046, M3HUWE |
3D structure databases
SMRi | P01763 |
ModBasei | Search... |
Protein-protein interaction databases
IntActi | P01763, 1 interactor |
Protein family/group databases
IMGT/GENE-DB | IGHV3-48 |
Polymorphism and mutation databases
BioMutai | IGHV3-48 |
DMDMi | 123842 |
Proteomic databases
jPOSTi | P01763 |
MassIVEi | P01763 |
PeptideAtlasi | P01763 |
PRIDEi | P01763 |
ProteomicsDBi | 51462 |
Genome annotation databases
Ensembli | ENST00000390624; ENSP00000375033; ENSG00000211964 ENST00000632296; ENSP00000487990; ENSG00000282627 |
Organism-specific databases
EuPathDBi | HostDB:ENSG00000211964.3 |
GeneCardsi | IGHV3-48 |
HGNCi | HGNC:5606, IGHV3-48 |
neXtProti | NX_P01763 |
OpenTargetsi | ENSG00000211964 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT01010000222417 |
OMAi | FSNYDMN |
Enzyme and pathway databases
PathwayCommonsi | P01763 |
Reactomei | R-HSA-166663, Initial triggering of complement R-HSA-173623, Classical antibody-mediated complement activation R-HSA-198933, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-202733, Cell surface interactions at the vascular wall R-HSA-2029481, FCGR activation R-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation R-HSA-2029485, Role of phospholipids in phagocytosis R-HSA-2168880, Scavenging of heme from plasma R-HSA-2454202, Fc epsilon receptor (FCERI) signaling R-HSA-2730905, Role of LAT2/NTAL/LAB on calcium mobilization R-HSA-2871796, FCERI mediated MAPK activation R-HSA-2871809, FCERI mediated Ca+2 mobilization R-HSA-2871837, FCERI mediated NF-kB activation R-HSA-5690714, CD22 mediated BCR regulation R-HSA-9664323, FCGR3A-mediated IL10 synthesis R-HSA-9664422, FCGR3A-mediated phagocytosis R-HSA-977606, Regulation of Complement cascade R-HSA-983695, Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
Miscellaneous databases
Pharosi | P01763, Tdark |
PROi | PR:P01763 |
RNActi | P01763, protein |
Gene expression databases
Bgeei | ENSG00000211964, Expressed in tonsil and 98 other tissues |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013106, Ig_V-set |
Pfami | View protein in Pfam PF07686, V-set, 1 hit |
SMARTi | View protein in SMART SM00406, IGv, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HV348_HUMAN | |
Accessioni | P01763Primary (citable) accession number: P01763 Secondary accession number(s): A0A0C4DH37 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | October 5, 2016 | |
Last modified: | December 2, 2020 | |
This is version 120 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM