IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHG1provided by HGNC
Official Full Name: immunoglobulin heavy constant gamma 1 (G1m marker)provided by HGNC
Primary source: HGNC:HGNC:5525
See related: Ensembl:ENSG00000211896 IMGT/GENE-DB:IGHG1; MIM:147100; AllianceGenome:HGNC:5525
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in extracellular space. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105741473..105743070, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (100012671..100014268, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106207810..106209407, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Immunoglobulin heavy constant gamma 1 silencing decreases tonicity-responsive enhancer-binding protein expression to alleviate diabetic nephropathy.
Title: Immunoglobulin heavy constant gamma 1 silencing decreases tonicity-responsive enhancer-binding protein expression to alleviate diabetic nephropathy.
CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion.
Title: CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion.
High expression of IGHG1 promotes breast cancer malignant development by activating the AKT pathway.
Title: High expression of IGHG1 promotes breast cancer malignant development by activating the AKT pathway.
An Asia-specific variant of human IgG1 represses colorectal tumorigenesis by shaping the tumor microenvironment.
Title: An Asia-specific variant of human IgG1 represses colorectal tumorigenesis by shaping the tumor microenvironment.
Association of IgG1 Antibody Clearance with FcgammaRIIA Polymorphism and Platelet Count in Infliximab-Treated Patients.
Title: Association of IgG1 Antibody Clearance with FcγRIIA Polymorphism and Platelet Count in Infliximab-Treated Patients.
These findings suggest that IGHG1 play a crucial role during the development of prostate cancer and inhibition of IGHG1 may be a potential therapy in the treatment of prostate cancer (PCa).
Title: IGHG1 Regulates Prostate Cancer Growth via the MEK/ERK/c-Myc Pathway.
Results indicated that IgG1 and IgG3 autoantibodies in Immuno-related hemocytopenia (IRH) patients might play a key role in the IRH pathogenesis.
Title: Demonstration of IgG Subclass (IgG1 and IgG3) in Immuno-Related Hemocytopenia.
Here, the authors demonstrate that SBP is actually the constant region of immunoglobulin G that binds to the membrane, specifically interacts with hepatitis B virus pre-Surface antigen (preS1) peptides, and enables HepG2 cells to uptake HBsAg preS1 peptides.
Title: The Hepatitis B Surface Antigen Binding Protein: An Immunoglobulin G Constant Region-Like Protein That Interacts With HBV Envelop Proteins and Mediates HBV Entry.
Structure of the Fc fragment of the IgG1 NIST reference antibody RM8671 has been reported.
Title: Structure of the Fc fragment of the NIST reference antibody RM8671.
Our results show that immunoglobulin GM genes are risk factors for the development of schizophrenia
Title: Immunoglobulin G genotypes and the risk of schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66790 (e-PCR)
- UniSTS:91160

PMC151015P1 (e-PCR)
- UniSTS:271132

D14S1342 (e-PCR)
- UniSTS:54568

A010A33 (e-PCR)
- UniSTS:16020

RH71306 (e-PCR)
- UniSTS:3229

RH44825 (e-PCR)
- UniSTS:51616

Other Names

constant region of heavy chain of IgG1
immunoglobulin gamma 1 (Gm marker)

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Fc-gamma receptor I complex binding	IDA Inferred from Direct Assay more info	PubMed
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	TAS Traceable Author Statement more info	PubMed
enables immunoglobulin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antibody-dependent cellular cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement-dependent cytotoxicity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of IgG immunoglobulin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of IgG immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of immunoglobulin complex, circulating	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.