IGHA1 immunoglobulin heavy constant alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGHA1provided by HGNC
Official Full Name: immunoglobulin heavy constant alpha 1provided by HGNC
Primary source: HGNC:HGNC:5478
See related: Ensembl:ENSG00000211895 IMGT/GENE-DB:IGHA1; MIM:146900; AllianceGenome:HGNC:5478
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IgA1
Summary: Contributes to immunoglobulin receptor binding activity. Involved in antibacterial humoral response; glomerular filtration; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105707168..105708664, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99979057..99980553, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106173505..106175001, 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?

Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA Vasculitis (IgAV).
Title: Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA Vasculitis (IgAV).
The transcription factor HMGB2 indirectly regulates APRIL expression and Gd-IgA1 production in patients with IgA nephropathy.
Title: The transcription factor HMGB2 indirectly regulates APRIL expression and Gd-IgA1 production in patients with IgA nephropathy.
Porphyromonas gingivalis infection in the oral cavity is associated with elevated galactose-deficient IgA1 and increased nephritis severity in IgA nephropathy.
Title: Porphyromonas gingivalis infection in the oral cavity is associated with elevated galactose-deficient IgA1 and increased nephritis severity in IgA nephropathy.
Galactose-deficient IgA1 Is Involved in IgA Deposition in Renal Grafts Biopsied One Hour after Kidney Transplantation.
Title: Galactose-deficient IgA1 Is Involved in IgA Deposition in Renal Grafts Biopsied One Hour after Kidney Transplantation.
Aberrant RL2 O-GlcNAc antibody reactivity against serum-IgA1 of patients with colorectal cancer.
Title: Aberrant RL2 O-GlcNAc antibody reactivity against serum-IgA1 of patients with colorectal cancer.
CD71 mesangial IgA1 receptor and the progression of IgA nephropathy.
Title: CD71 mesangial IgA1 receptor and the progression of IgA nephropathy.
Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.
Title: Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.
TLR7 in B cells promotes renal inflammation and Gd-IgA1 synthesis in IgA nephropathy.
Title: TLR7 in B cells promotes renal inflammation and Gd-IgA1 synthesis in IgA nephropathy.
Detailed Structure and Pathophysiological Roles of the IgA-Albumin Complex in Multiple Myeloma.
Title: Detailed Structure and Pathophysiological Roles of the IgA-Albumin Complex in Multiple Myeloma.
is s immune component extensively expressed in mucosa and epidermis, which are responsible for the first line of host defense.
Title: Influence of chewing on expression level of human beta-defensin 2 and secretory immunoglobulin A in the epithelium.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

RH18069 (e-PCR)
- UniSTS:9224

RH66790 (e-PCR)
- UniSTS:91160

RH44850 (e-PCR)
- UniSTS:8845

RH44849 (e-PCR)
- UniSTS:42128

PMC19472P1 (e-PCR)
- UniSTS:271775

RH68957 (e-PCR)
- UniSTS:57509

G60288 (e-PCR)
- UniSTS:137393

Other Names

immunoglobulin alpha 1
immunoglobulin heavy chain constant region alpha 1

Clone Names

FLJ14473, FLJ35065, FLJ35500, FLJ36402, FLJ39698, FLJ40001, FLJ41548, FLJ41552, FLJ41789, FLJ43248, FLJ43594, FLJ44293, FLJ46028, FLJ46621, FLJ46724, FLJ46811, FLJ46824, FLJ90170, MGC102857, AL928768.3

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	NAS Non-traceable Author Statement more info	PubMed
contributes_to immunoglobulin receptor binding	IDA Inferred from Direct Assay 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	NAS Non-traceable Author Statement more info	PubMed
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antibacterial humoral response	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 glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of IgA immunoglobulin complex	NAS Non-traceable Author Statement 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
part_of monomeric IgA immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of secretory IgA immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
part_of secretory dimeric IgA immunoglobulin complex	IDA Inferred from Direct Assay 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.