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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGHA1 Gene

protein-coding   GIFtS: 41
GCID: GC14M106171

immunoglobulin heavy constant alpha 1
 Explore 11 diseases affiliated with
IGHA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IGHA1    

Aliases
for IGHA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Immunoglobulin Heavy Constant Alpha 11 2
IgA12

External Ids:    HGNC: 54781   Entrez Gene: 34932   Ensembl: ENSG000002118957   OMIM: 1469005   UniProtKB: P018763   

Export aliases for IGHA1 gene to outside databases

Previous GC identifers: GC14U990030 GC14M104147 GC14M104150 GC14M105249 GC14M105250 GC14M086307


Summaries
for IGHA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: IGHA1_HUMAN, P01876
Function: Ig alpha is the major immunoglobulin class in body secretions. It may serve both to defend against local
infection and to prevent access of foreign antigens to the general immunologic system

Gene Wiki entry for IGHA1 (Immunoglobulin heavy constant alpha 1)


Genomic Views
for IGHA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IGHA1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for IGHA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGHA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

IGHA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGHA1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M106171:  view genomic region     (about GC identifiers)

Start:
 106,173,457 bp from pter      End:
 106,175,002 bp from pter
Size:
 1,546 bases      Orientation:
 minus strand

Proteins
for IGHA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: IGHA1_HUMAN, P01876 (See protein sequence)
Recommended Name: Ig alpha-1 chain C region  
Size: 353 amino acids; 37655 Da
Subunit: Monomeric or polymeric
Sequence caution: Sequence=AAC82528.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for IGHA1:
1IGA (3D)        1OW0 (3D)        2QEJ (3D)    

Explore the universe of human proteins at neXtProt for IGHA1: NX_P01876

Post-translational modifications:

  • 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-3521
  • N- and O-glycosylated. N-glycan at Asn-144: Hex5HexNAc41
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P01876

    • IGHA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


    ENSEMBL proteins: 
     ENSP00000374989  
    Reactome Protein details: P01876
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    Uscn Proteins for IGHA1


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    Uscn ELISAs and CLIAs for IGHA1

    Protein Domains /
    Families
    for IGHA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IGHA1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry P01876

    ProtoNet protein and cluster: P01876

    1 Blocks protein family: IPB003597 Immunoglobulin C-type

    UniProtKB/Swiss-Prot: IGHA1_HUMAN, P01876
    Similarity: Contains 3 Ig-like (immunoglobulin-like) domains


    Function
    for IGHA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: IGHA1_HUMAN, P01876
    Function: Ig alpha is the major immunoglobulin class in body secretions. It may serve both to defend against local
    infection and to prevent access of foreign antigens to the general immunologic system

         Genatlas biochemistry entry for IGHA1:
    immunoglobulin,alpha 1,including a locus control region,see LCR- IGHA1

    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding NAS107164


    IGHA1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for IGHA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cleavage of Alpha-1-Microglobulin
    		Cleavage of Alpha-1-Microglobulin1.00
    		Binding and Uptake of Ligands by Scavenger Receptors0.79
    		Scavenging of Heme from Plasma0.79
    2Inflammatory Response Pathway
    		Inflammatory Response Pathway1.00
    3Regulation of nuclear SMAD2/3 signaling
    		Regulation of nuclear SMAD2/3 signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for IGHA1 
        Inflammatory Response Pathway
    Regulation of nuclear SMAD2/3 signaling

    3        Reactome Pathways for IGHA1
        Scavenging of Heme from Plasma
    Binding and Uptake of Ligands by Scavenger Receptors
    Cleavage of Alpha-1-Microglobulin



    IGHA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IGHA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/61 Interacting proteins for IGHA1 (P018763 ENSP000003749894) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=1 STRING: ENSP00000257430
    APOC1P026543, ENSP000002524914I2D: score=1 STRING: ENSP00000252491
    CAV1Q031353, ENSP000003391914I2D: score=1 STRING: ENSP00000339191
    CDH1P128303, ENSP000002617694I2D: score=1 STRING: ENSP00000261769
    CTR9Q6PD623, ENSP000003550134I2D: score=1 STRING: ENSP00000355013
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS107164
    GO:0018298protein-chromophore linkage IEA--


    IGHA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IGHA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IGHA1
    Search CenterWatch for drugs/clinical trials and news about IGHA1 

    Transcripts
    for IGHA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000390547

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IGHA1
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
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    Browse OriGene siRNA
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    Clone
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    Primer
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGHA1

    9 AceView cDNA sequences:

    CR597203 CR598487 CR603781 CR608341 CR606321 AJ294729 AK128533 AK123975 
    BX640822 

    GeneLoc Exon Structure


    Expression
    for IGHA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IGHA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCCCCCAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See IGHA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IGHA1
        SABiosciences Custom PCR Arrays for IGHA1
    Primer
    Products:    		Browse OriGene genome-wide validated SYBR primer pairs
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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for IGHA1

    Orthologs
    for IGHA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for IGHA1 gene from 2/5 species (see all 5)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 17(a)
    		 possible ortholog
    		 GL343491.1(485127-498368)
    zebrafish
    (Danio rerio)    		 Actinopterygii ighd6
    ighz6
    		 immunoglobulin heavy constant zeta
    		 4(a)
    13(a)
    		 many ↔ many
    many ↔ many
    		 3(34034542-34046885)
    3(34079980-34083059)


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

    Paralogs
    for IGHA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IGHA1 gene
    IGHG22  IGHE2  IGHG32  IGHM2  IGHG42  IGHG12  IGHA22  
    18/28 SIMAP similar genes for IGHA1 using alignment to 1 protein entry:     IGHA1_HUMAN(see all similar genes):
    DKFZp686G21220    DKFZp686J11235    DKFZp686K18196    SNC73    DKFZp686C02218    DKFZp686K04218
    DKFZp686L19235    IGHA2    DKFZp686C02220    DKFZp686M08189    DKFZp686O16217    IGH@
    DKFZp686E23209    DKFZp686M24218    IGHG2    IGHG4    DKFZp686C11235    DKFZp686C15213

    IGHA1 for paralogs           About GeneDecksing



    Genomic Variants
    for IGHA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Human Gene Mutation Database (HGMD): IGHA1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IGHA1
    DNA2.0 Custom Variant and Variant Library Synthesis for IGHA1

    Disorders / Diseases
    for IGHA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IGHA1 for disorders           About GeneDecksing

    OMIM gene information: 146900    OMIM disorders: --

    UniProtKB/Swiss-Prot: IGHA1_HUMAN, P01876
  • 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

    11 diseases for IGHA1:    About MalaCards
    dermatitis herpetiformis    psoriatic arthritis    hepatitis a    multiple myeloma
    dermatitis    myeloma    arthritis    psoriasis
    nephropathy    hepatitis    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: IGHA1 (1 document)

    Export disorders for IGHA1 gene to outside databases

    Publications
    for IGHA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IGHA1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with IGHA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A proteomic analysis of human bile. (PubMed id 15084671)1, 2 Kristiansen T.Z.... Pandey A. (2004)
    2. 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. (PubMed id 7506257)1, 2 Calero M.... Mendez E. (1994)
    3. The structure and function of human IgA. (PubMed id 2241915)1, 2 Kerr M.A. (1990)
    4. Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. (PubMed id 6421489)1, 2 Flanagan J.G.... Rabbitts T.H. (1984)
    5. Rule of antibody structure. Primary structure of a human monoclonal IgA-immunoglobulin (myeloma protein Tro). VII. Purification and characterization of the disulfide bridges. (PubMed id 393607)1, 2 Yang C.-Y.... Hilschmann N. (1979)
    6. Primary structure of a human IgA1 immunoglobulin. IV. Streptococcal IgA1 protease, digestion, Fab and Fc fragments, and the complete amino acid sequence of the alpha 1 heavy chain. (PubMed id 107164)1, 2 Putnam F.W.... Low T.L.K. (1979)
    7. The primary structure of a monoclonal IgA-immunoglobulin (IgA Tro.), II. The amino acid sequence of the H-chain, alpha-type, subgroup III; structure of the complete IgA-molecule. (PubMed id 809331)1, 2 Kratzin H....Hilschmann N. (1975)
    8. Effects of partner proteins on BCA2 RING ligase activi ty. (PubMed id 22315970)1 Bacopulos S....Seth A.K. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for IGHA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IGHA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3493 HGNC: 5478 AceView: IGHA1 Ensembl:ENSG00000211895 euGenes: HUgn3493
    ECgene: IGHA1 H-InvDB: IGHA1

    Other Databases showing IGHA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IGHA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IGHA1 Pharmacogenomics, SNPs, Pathways
    IMGT entry for IGHA1 The international ImMunoGeneTics information system® specializing in Immunoglobulins (IG), T cell receptors (TR), Major Histocompatibility Complex (MHC) and related proteins of the immune system (RPI) of human and other vertebrate species.
    IMGT/GENE-DBhttp://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHA1&species=Homo+sapiens

    Intellectual Property
    for IGHA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for IGHA1 gene:
    Search GeneIP for patents involving IGHA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for IGHA1 gene

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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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