Aliases for IGHA1 Gene

Aliases for IGHA1 Gene

  • Immunoglobulin Heavy Constant Alpha 1 2 3 4 5
  • Immunoglobulin Heavy Chain Constant Region Alpha 1 3
  • Ig Alpha-1 Chain C Region BUR 4
  • Ig Alpha-1 Chain C Region TRO 4
  • Ig Alpha-1 Chain C Region 4
  • Immunoglobulin Alpha 1 3
  • IGHA1 5
  • IgA1 3

External Ids for IGHA1 Gene

Previous GeneCards Identifiers for IGHA1 Gene

  • GC14U990030
  • GC14M104147
  • GC14M104150
  • GC14M105249
  • GC14M105250
  • GC14M106171
  • GC14M086307
  • GC14M105708
  • GC14M105755
  • GC14M105768
  • GC14M105782
  • GC14M105830
  • GC14M105709
  • GC14M105719
  • GC14M105730
  • GC14M105745

Summaries for IGHA1 Gene

GeneCards Summary for IGHA1 Gene

IGHA1 (Immunoglobulin Heavy Constant Alpha 1) is a Protein Coding gene. Among its related pathways are Cell surface interactions at the vascular wall and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include antigen binding and immunoglobulin receptor binding. An important paralog of this gene is IGHA2.

UniProtKB/Swiss-Prot Summary for IGHA1 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). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915).

Gene Wiki entry for IGHA1 Gene

Additional gene information for IGHA1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGHA1 Gene

Genomics for IGHA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGHA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGHA1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IGHA1 Gene

Genomic Locations for IGHA1 Gene
chr14:105,703,995-105,708,665
(GRCh38/hg38)
Size:
4,671 bases
Orientation:
Minus strand
chr14:106,173,457-106,175,002
(GRCh37/hg19)
Size:
1,546 bases
Orientation:
Minus strand

Genomic View for IGHA1 Gene

Genes around IGHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGHA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGHA1 Gene

Proteins for IGHA1 Gene

  • Protein details for IGHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01876-IGHA1_HUMAN
    Recommended name:
    Immunoglobulin heavy constant alpha 1
    Protein Accession:
    P01876

    Protein attributes for IGHA1 Gene

    Size:
    353 amino acids
    Molecular mass:
    37655 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked (PubMed:20176268). Monomeric or polymeric (PubMed:2241915).
    SequenceCaution:
    • Sequence=AAC82528.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGHA1 Gene

neXtProt entry for IGHA1 Gene

Post-translational modifications for IGHA1 Gene

  • 3-Hydroxykynurenine, an oxidized tryptophan metabolite that is common in biological fluids, reacts with alpha-1-microglobulin to form heterogeneous polycyclic chromophores including hydroxanthommatin. The chromophore reacts with accessible cysteines forming non-reducible thioether cross-links with Ig alpha-1 chain C region Cys-352.
  • N- and O-glycosylated. N-glycan at Asn-144: Hex5HexNAc4.
  • Glycosylation at Ser105, Ser111, Ser113, Ser119, Ser121, Asn144, and Asn340
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for IGHA1 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for IGHA1 Gene

Domains & Families for IGHA1 Gene

Gene Families for IGHA1 Gene

Protein Domains for IGHA1 Gene

InterPro:
Blocks:
  • Immunoglobulin C-type
ProtoNet:

Suggested Antigen Peptide Sequences for IGHA1 Gene

GenScript: Design optimal peptide antigens:
  • Ig alpha-1 chain C region (IGHA1_HUMAN)
genes like me logo Genes that share domains with IGHA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGHA1 Gene

Function for IGHA1 Gene

Molecular function for IGHA1 Gene

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). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915).
GENATLAS Biochemistry:
immunoglobulin,alpha 1,including a locus control region,see LCR- IGHA1

Phenotypes From GWAS Catalog for IGHA1 Gene

Gene Ontology (GO) - Molecular Function for IGHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding NAS 107164
GO:0034987 contributes_to immunoglobulin receptor binding IDA 23250751
genes like me logo Genes that share ontologies with IGHA1: view

Phenotypes for IGHA1 Gene

genes like me logo Genes that share phenotypes with IGHA1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGHA1 Gene

Localization for IGHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHA1 Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 23398317
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IGHA1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGHA1 Gene

Pathways & Interactions for IGHA1 Gene

genes like me logo Genes that share pathways with IGHA1: view

Interacting Proteins for IGHA1 Gene

Gene Ontology (GO) - Biological Process for IGHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0003094 glomerular filtration IMP 23398317
GO:0006898 receptor-mediated endocytosis TAS --
genes like me logo Genes that share ontologies with IGHA1: view

No data available for SIGNOR curated interactions for IGHA1 Gene

Drugs & Compounds for IGHA1 Gene

(2) Drugs for IGHA1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with IGHA1: view

Transcripts for IGHA1 Gene

mRNA/cDNA for IGHA1 Gene

56 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGHA1 Gene

No ASD Table

Relevant External Links for IGHA1 Gene

GeneLoc Exon Structure for
IGHA1

Expression for IGHA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGHA1 Gene

mRNA differential expression in normal tissues according to GTEx for IGHA1 Gene

This gene is overexpressed in Minor Salivary Gland (x13.2), Colon - Transverse (x8.8), Spleen (x7.5), Small Intestine - Terminal Ileum (x7.4), and Stomach (x4.2).

Protein differential expression in normal tissues from HIPED for IGHA1 Gene

This gene is overexpressed in Milk (9.6), Pancreatic juice (7.4), and Serum (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGHA1 Gene



Protein tissue co-expression partners for IGHA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGHA1

genes like me logo Genes that share expression patterns with IGHA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHA1 Gene

Orthologs for IGHA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGHA1 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia -- 31
  • 62 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Igha 31
  • 58 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 54 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 46 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 16 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii ighv1-4 31
  • 13 (a)
OneToMany
Species where no ortholog for IGHA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 IGHA1 Gene

ENSEMBL:
Gene Tree for IGHA1 (if available)
TreeFam:
Gene Tree for IGHA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGHA1: view image

Paralogs for IGHA1 Gene

genes like me logo Genes that share paralogs with IGHA1: view

Variants for IGHA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHA1 Gene

IGHA1_HUMAN-P01876
There are several alleles. The sequence shown is that of IMGT allele IGHA1*02.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGHA1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1407 - p.Glu176Asp

Additional Variant Information for IGHA1 Gene

Human Gene Mutation Database (HGMD)
IGHA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGHA1

SNP Genotyping and Copy Number Assay Products

No data available for Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHA1 Gene

Disorders for IGHA1 Gene

UniProtKB/Swiss-Prot

IGHA1_HUMAN
  • Note=A chromosomal aberration involving IGHA1 is found in multiple myeloma (MM) cell lines. Translocation t(1;14)(q21;q32) that forms a FCRL4-IGHA1 fusion protein. {ECO:0000269 PubMed:11290337}.

Additional Disease Information for IGHA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for IGHA1 Gene.

No data available for MalaCards and Genatlas for IGHA1 Gene

Publications for IGHA1 Gene

  1. Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration. (PMID: 20007591) Giambra V … Frezza D (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 41
  2. A proteomic analysis of human bile. (PMID: 15084671) Kristiansen TZ … Pandey A (Molecular & cellular proteomics : MCP 2004) 3 4
  3. Location of a novel type of interpolypeptide chain linkage in the human protein HC-IgA complex (HC-IgA) and identification of a heterogeneous chromophore associated with the complex. (PMID: 7506257) Calero M … Méndez E (The Journal of biological chemistry 1994) 3 4
  4. The structure and function of human IgA. (PMID: 2241915) Kerr MA (The Biochemical journal 1990) 3 4
  5. Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. (PMID: 6421489) Flanagan JG … Rabbitts TH (Cell 1984) 3 4

Products for IGHA1 Gene

Sources for IGHA1 Gene