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Aliases for IGHG1 Gene

Aliases for IGHG1 Gene

  • Immunoglobulin Heavy Constant Gamma 1 (G1m Marker) 2 3 5
  • Ig Gamma-1 Chain C Region KOL 4
  • Ig Gamma-1 Chain C Region NIE 4
  • Ig Gamma-1 Chain C Region EU 4
  • Ig Gamma-1 Chain C Region 4

External Ids for IGHG1 Gene

Previous GeneCards Identifiers for IGHG1 Gene

  • GC14M103243
  • GC14U900161
  • GC14M104063
  • GC14M104065
  • GC14M105244
  • GC14M105278
  • GC14M105275
  • GC14M106204
  • GC14M086340
  • GC14M105668

Summaries for IGHG1 Gene

GeneCards Summary for IGHG1 Gene

IGHG1 (Immunoglobulin Heavy Constant Gamma 1 (G1m Marker)) is a Protein Coding gene. Diseases associated with IGHG1 include Chronic Lymphocytic Leukemia and Heavy Chain Deposition Disease. Among its related pathways are Role of phospholipids in phagocytosis and Innate Immune System. GO annotations related to this gene include antigen binding. An important paralog of this gene is IGHG3.

UniProtKB/Swiss-Prot for IGHG1 Gene

  • Constant region of immunoglobulin heavy chains. 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:17576170, PubMed:20176268).

Gene Wiki entry for IGHG1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGHG1 Gene

Genomics for IGHG1 Gene

Regulatory Elements for IGHG1 Gene

Enhancers for IGHG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G105747 1 Ensembl ENCODE 0.7 -4.7 -4688 1.5 KLF1 INSM2 ZNF76 KLF17 ZIC2 CTBP1 PATZ1 FOS ZNF600 PRDM10 IGHV2-70D GC14P105748 IGHG1
GH14G105733 1 ENCODE dbSUPER 0.4 +9.2 9225 0.3 HDGF PKNOX1 KLF1 SUZ12 SALL2 ZNF48 ZNF776 MTA3 CTBP1 ZNF169 TMEM121 PACS2 IGHG1 IGHEP1
GH14G105745 0.4 dbSUPER 0.7 -2.7 -2670 0.7 ZEB2 ZEB1 IGHV2-70D GC14P105748 IGHG1
GH14G105722 0.6 dbSUPER 0.4 +19.7 19743 1.5 MAZ ESRRA ZNF687 MTA1 ZBTB33 DPF2 IGHEP1 IGHG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGHG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IGHG1 Gene

Chromosome:
14
Start:
105,736,343 bp from pter
End:
105,743,071 bp from pter
Size:
6,729 bases
Orientation:
Minus strand

Genomic View for IGHG1 Gene

Genes around IGHG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGHG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGHG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGHG1 Gene

Proteins for IGHG1 Gene

  • Protein details for IGHG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01857-IGHG1_HUMAN
    Recommended name:
    Immunoglobulin heavy constant gamma 1
    Protein Accession:
    P01857

    Protein attributes for IGHG1 Gene

    Size:
    330 amino acids
    Molecular mass:
    36106 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
    SequenceCaution:
    • Sequence=AAC82527.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGHG1 Gene

neXtProt entry for IGHG1 Gene

Post-translational modifications for IGHG1 Gene

  • Glycosylation at posLast=180180
  • Modification sites at PhosphoSitePlus

Other Protein References for IGHG1 Gene

No data available for DME Specific Peptides for IGHG1 Gene

Domains & Families for IGHG1 Gene

Gene Families for IGHG1 Gene

Protein Domains for IGHG1 Gene

Suggested Antigen Peptide Sequences for IGHG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGHG1: view

No data available for UniProtKB/Swiss-Prot for IGHG1 Gene

Function for IGHG1 Gene

Molecular function for IGHG1 Gene

GENATLAS Biochemistry:
immunoglobulin,gamma 1 (Gm marker)
UniProtKB/Swiss-Prot Function:
Constant region of immunoglobulin heavy chains. 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:17576170, PubMed:20176268).

Gene Ontology (GO) - Molecular Function for IGHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding TAS 6287432
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 11567028
GO:0034987 immunoglobulin receptor binding IBA --
genes like me logo Genes that share ontologies with IGHG1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGHG1 Gene

Localization for IGHG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHG1 Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0009897 external side of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGHG1: view

No data available for Subcellular locations from COMPARTMENTS for IGHG1 Gene

Pathways & Interactions for IGHG1 Gene

genes like me logo Genes that share pathways with IGHG1: view

Interacting Proteins for IGHG1 Gene

Selected Interacting proteins: P01857-IGHG1_HUMAN for IGHG1 Gene via IID MINT UniProtKB

Symbol External ID(s) Details
HLA-B
HLA-DRB1
HLA-A
IGKC
FCGR2B

Gene Ontology (GO) - Biological Process for IGHG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006910 phagocytosis, recognition IBA --
GO:0006911 phagocytosis, engulfment IBA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
genes like me logo Genes that share ontologies with IGHG1: view

No data available for SIGNOR curated interactions for IGHG1 Gene

Drugs & Compounds for IGHG1 Gene

(24) Drugs for IGHG1 Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(1S,2S,5S)2-(4-GLUTARIDYLBENZYL)-5-PHENYL-1-CYCLOHEXANOL Experimental Pharma Target 0
(2-AMINO-3-PHENYL-BICYCLO[2.2.1]HEPT-2-YL)-PHENYL-METHANONE Experimental Pharma Target 0
[2'-CARBOXYLETHYL]-10-METHYL-ANTHRACENE ENDOPEROXIDE Experimental Pharma Target 0
2-(4-HYDROXY-3-NITROPHENYL)ACETIC ACID Experimental Pharma Target 0
3-(10-METHYL-ANTHRACEN-9-YL)-PROPIONIC ACID Experimental Pharma Target 0
genes like me logo Genes that share compounds with IGHG1: view

Transcripts for IGHG1 Gene

Unigene Clusters for IGHG1 Gene

Immunoglobulin heavy constant gamma 1 (G1m marker):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IGHG1 Gene

No ASD Table

Relevant External Links for IGHG1 Gene

GeneLoc Exon Structure for
IGHG1
ECgene alternative splicing isoforms for
IGHG1

Expression for IGHG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGHG1 Gene

mRNA differential expression in normal tissues according to GTEx for IGHG1 Gene

This gene is overexpressed in Spleen (x26.3).

Protein differential expression in normal tissues from HIPED for IGHG1 Gene

This gene is overexpressed in Vitreous humor (11.4) and Cerebrospinal fluid (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGHG1 Gene



Protein tissue co-expression partners for IGHG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGHG1 Gene:

IGHG1

SOURCE GeneReport for Unigene cluster for IGHG1 Gene:

Hs.510635

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHG1 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Organs:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with IGHG1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for IGHG1 Gene

Orthologs for IGHG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGHG1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ighg2c 35
  • 65 (a)
ManyToMany
Ighg1 35
  • 63 (a)
ManyToMany
Ighg3 35
  • 62 (a)
ManyToMany
Ighg2b 35
  • 58 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 43 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 35
  • 15 (a)
OneToMany
Species where no ortholog for IGHG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGHG1 Gene

ENSEMBL:
Gene Tree for IGHG1 (if available)
TreeFam:
Gene Tree for IGHG1 (if available)

Paralogs for IGHG1 Gene

Variants for IGHG1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHG1 Gene

IGHG1_HUMAN-P01857
There are several alleles. The sequence shown is that of IMGT allele IGHG1*05.

Sequence variations from dbSNP and Humsavar for IGHG1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_003886 --
VAR_003887 --
VAR_003888 --

Relevant External Links for IGHG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGHG1

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHG1 Gene

Disorders for IGHG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IGHG1 Gene - From: Orphanet and GeneCards

Disorder Aliases PubMed IDs
chronic lymphocytic leukemia
  • cll
heavy chain deposition disease
  • hcdd
- elite association - COSMIC cancer census association via MalaCards
Search IGHG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGHG1_HUMAN
  • Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269 PubMed:11972529, ECO:0000269 PubMed:8943038}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4.

Genatlas disease for IGHG1 Gene

infections,recurrent

Relevant External Links for IGHG1

Genetic Association Database (GAD)
IGHG1
Human Genome Epidemiology (HuGE) Navigator
IGHG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGHG1
genes like me logo Genes that share disorders with IGHG1: view

Publications for IGHG1 Gene

  1. IgG1 heavy chain-coding gene polymorphism (G1m allotypes) and development of antibodies-to-infliximab. (PMID: 19319024) Magdelaine-Beuzelin C. … Watier H. (Pharmacogenet. Genomics 2009) 3 22 46 64
  2. Single nucleotide polymorphism of interleukin-1beta associated with Helicobacter pylori infection in immune thrombocytopenic purpura. (PMID: 19317746) Satoh T. … Kuwana M. (Tissue Antigens 2009) 3 46 64
  3. Association between Gm allotypes and asthma severity from childhood to young middle age. (PMID: 17933503) Gustafsson P.M. … Kjellman B. (Respir Med 2008) 3 46 64
  4. Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. (PMID: 18821675) O'Hanlon T.P. … Miller F.W. (Arthritis Rheum. 2008) 3 46 64
  5. Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker. (PMID: 17044868) Giambra V. … Frezza D. (Ann. Hum. Genet. 2006) 3 46 64

Products for IGHG1 Gene

Sources for IGHG1 Gene

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