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Aliases for IGHA1 Gene

Aliases for IGHA1 Gene

  • Immunoglobulin Heavy Constant Alpha 1 2 3 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
  • IgA1 3

External Ids for IGHA1 Gene

Previous GeneCards Identifiers for IGHA1 Gene

  • GC14U990030
  • GC14M104147
  • GC14M104150
  • GC14M105249
  • GC14M105250
  • GC14M106171
  • GC14M086307
  • GC14M105708

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 Vesicle-mediated transport and Binding and Uptake of Ligands by Scavenger Receptors. GO annotations related to this gene include antigen binding and immunoglobulin receptor binding. An important paralog of this gene is IGHA2.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGHA1 Gene

Genomics for IGHA1 Gene

Regulatory Elements for IGHA1 Gene

Enhancers for IGHA1 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
GH14G105705 1 ENCODE dbSUPER 0.7 +0.1 117 5.5 HDGF CTCF PKNOX1 USF1 NFIB ZNF140 YBX1 ZBTB7B ZKSCAN1 MTA3 IGHE ENSG00000257270 IGHV3-20 IGHV3-15 ENSG00000253701 IGHA1
GH14G105711 0.8 ENCODE dbSUPER 0.7 -3.4 -3411 1.0 CTCF HDGF NONO POLR2A ZBTB8A ZNF592 IGHA1 IGHEP1
GH14G105712 0.8 ENCODE dbSUPER 0.7 -4.2 -4214 0.2 NFIB BHLHE40 NR2F1 DPF2 IGHE IGHA1 IGHEP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGHA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IGHA1 Gene

Chromosome:
14
Start:
105,707,118 bp from pter
End:
105,708,665 bp from pter
Size:
1,548 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=Translation N-terminally extended.; 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 isoforms=105, isoforms=111, posLast=113113, posLast=119119, isoforms=121, isoforms=144, and posLast=340340
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for IGHA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for IGHA1 Gene

Function for IGHA1 Gene

Molecular function for IGHA1 Gene

GENATLAS Biochemistry:
immunoglobulin,alpha 1,including a locus control region,see LCR- IGHA1
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).

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

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

Animal Model Products

Clone 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 16502470
GO:0009897 external side of plasma membrane IBA --
GO:0070062 extracellular exosome IDA 20458337
GO:0071748 monomeric IgA immunoglobulin complex IDA 23250751
genes like me logo Genes that share ontologies with IGHA1: view

No data available for Subcellular locations from COMPARTMENTS for IGHA1 Gene

Pathways & Interactions for IGHA1 Gene

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

Interacting Proteins for IGHA1 Gene

Selected Interacting proteins: P01876-IGHA1_HUMAN for IGHA1 Gene via IID

Gene Ontology (GO) - Biological Process for IGHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP 23580065
GO:0003094 glomerular filtration IMP 23398317
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006910 phagocytosis, recognition IBA --
GO:0006911 phagocytosis, engulfment IBA --
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

No Compound Related Data Available

Transcripts for IGHA1 Gene

mRNA/cDNA for IGHA1 Gene

(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for IGHA1 Gene

GeneLoc Exon Structure for
IGHA1
ECgene alternative splicing isoforms for
IGHA1

Expression for IGHA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of IGHA1 Gene:

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 -- 35
  • 62 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Igha 35
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 54 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 47 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 16 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 35
  • 13 (a)
OneToMany
Species where no ortholog for IGHA1 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 IGHA1 Gene

ENSEMBL:
Gene Tree for IGHA1 (if available)
TreeFam:
Gene Tree for IGHA1 (if available)

Paralogs for IGHA1 Gene

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 from dbSNP and Humsavar for IGHA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1407 --

Relevant External Links for IGHA1 Gene

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

No data available for 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}.

Relevant External Links for IGHA1

Genetic Association Database (GAD)
IGHA1
Human Genome Epidemiology (HuGE) Navigator
IGHA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGHA1

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. (J. Immunol. 2009) 3 46 64
  2. A proteomic analysis of human bile. (PMID: 15084671) Kristiansen T.Z. … Pandey A. (Mol. Cell. Proteomics 2004) 3 4 64
  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. … Mendez E. (J. Biol. Chem. 1994) 3 4 64
  4. The structure and function of human IgA. (PMID: 2241915) Kerr M.A. (Biochem. J. 1990) 3 4 64
  5. Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. (PMID: 6421489) Flanagan J.G. … Rabbitts T.H. (Cell 1984) 3 4 64

Products for IGHA1 Gene

Sources for IGHA1 Gene

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