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A1BG Gene

protein-coding   GIFtS: 50
GCID: GC19M058858

Alpha-1-B Glycoprotein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alpha-1-B Glycoprotein1 2 3     HEL-S-163pA2
A1B2     HYST24772
ABG2     alpha-1B-glycoprotein2
GAB2     Epididymis Secretory Sperm Binding Protein Li 163pA2

External Ids:    HGNC: 51   Entrez Gene: 12   Ensembl: ENSG000001214107   OMIM: 1386705   UniProtKB: P042173   

Export aliases for A1BG gene to outside databases

Previous GC identifers: GC19M059755 GC19M059310 GC19M063532 GC19M063548 GC19M055168


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for A1BG Gene:
The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence
similarity to the variable regions of some immunoglobulin supergene family member proteins. (provided by RefSeq,
Jul 2008)

GeneCards Summary for A1BG Gene:
A1BG (alpha-1-B glycoprotein) is a protein-coding gene. Diseases associated with A1BG include pancreatic ductal adenocarcinoma, and otosclerosis. An important paralog of this gene is LILRB4.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the A1BG gene promoter:
         TBP   RFX1   Pbx1a   Nkx5-1   Meis-1b   RORalpha1   STAT3   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidA1BG promoter sequence
   Search Chromatin IP Primers for A1BG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat A1BG


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.43   HGNC cytogenetic band: 19q13.43

A1BG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
A1BG gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M058858:  view genomic region     (about GC identifiers)

Start:
58,856,544 bp from pter      End:
58,864,865 bp from pter
Size:
8,322 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: A1BG_HUMAN, P04217 (See protein sequence)
Recommended Name: Alpha-1B-glycoprotein precursor  
Size: 495 amino acids; 54254 Da
Subunit: Interacts with CRISP3
Secondary accessions: A8K052 Q68CK0 Q8IYJ6 Q96P39
Alternative splicing: 2 isoforms:  P04217-1   P04217-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for A1BG: NX_P04217

Explore proteomics data for A1BG at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn44, Asn179, Asn363, Asn371

  • See A1BG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_570602.2  
    ENSEMBL proteins: 
     ENSP00000263100   ENSP00000470909  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    4 InterPro protein domains:
     IPR016332 A1B_glyco/leuk_Ig-like_rcpt
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P04217

    ProtoNet protein and cluster: P04217

    1 Blocks protein domain: IPB003598 Immunoglobulin C-2 type

    UniProtKB/Swiss-Prot: A1BG_HUMAN, P04217
    Similarity: Contains 5 Ig-like V-type (immunoglobulin-like) domains


    A1BG for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for A1BG:
    glycoprotein,alpha-1-B-

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    A1BG for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for A1BG:
     Cell cycle / mitosis defect  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for A1BG
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    A1BG_HUMAN, P04217: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA3458201
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0072562blood microparticle IDA--

    A1BG for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for A1BG
    Interactions:

        Search GeneGlobe Interaction Network for A1BG

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for A1BG (P042172, 3 ENSP000002631004) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8270777 I2D: score=2 
    SMN2Q166372, 3MINT-8270777 I2D: score=2 
    ANXA7P200732, 3MINT-8247921 I2D: score=2 
    CDKN1AP389362, 3MINT-8251478 I2D: score=2 
    GRB7Q144512, 3MINT-8256613 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    A1BG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for A1BG



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for A1BG gene: 
    NM_130786.3  

    Unigene Cluster for A1BG:

    Alpha-1-B glycoprotein
    Hs.529161  [show with all ESTs]
    Unigene Representative Sequence: AK056201
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000596924 ENST00000263100(uc002qsd.4 uc002qsf.2) ENST00000595014
    ENST00000598345 ENST00000600966
    miRNA
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    Additional mRNA sequence: 

    AB073611.1 AF414429.1 AK056201.1 AK289417.1 BC035719.1 BX537419.1 

    8 DOTS entries:

    DT.95230508  DT.207949  DT.100768640  DT.97823153  DT.121451092  DT.100878023  DT.100878029  DT.100878031 

    Selected AceView cDNA sequences (see all 152):

    CB130055 BX410165 CB115657 BM722278 CB130068 BF196450 CB137690 CB130088 
    CR614062 CB138231 CB144216 BU740127 CB134894 AL118990 CB135246 CB163551 
    CB163893 BX282528 CB156790 CB130118 CB130078 CB138248 CB144217 AL118991 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for A1BG    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8
    SP1:                                -     -                                 
    SP2:                                                                        
    SP3:                                                                        


    ECgene alternative splicing isoforms for A1BG

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    A1BG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAACCAAAA
    A1BG Expression
    About this image

    A1BG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    A1BG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529161

    UniProtKB/Swiss-Prot: A1BG_HUMAN, P04217
    Tissue specificity: Plasma

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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for A1BG gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia A1bg1 , 5 alpha-1-B glycoprotein1, 5 60.08(n)1
    46.23(a)1
      15 (25.70 cM)5
    1175861  NM_001081067.11  NP_001074536.11 
     609175895 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    21(a)
    1 → many
    GL343329.1(1197670-1218701)


    ENSEMBL Gene Tree for A1BG (if available)
    TreeFam Gene Tree for A1BG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for A1BG gene
    LILRB42  KIR2DL42  LILRB12  KIR2DS42  LILRA62  LILRA52  IGSF12  KIR3DL12  
    OSCAR2  NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  
    KIR3DL32  KIR3DS12  LILRA12  KIR2DL12  LILRB22  KIR3DL22  LILRA22  KIR2DL32  
    FCAR2  GP62  LILRB32  

    A1BG for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for A1BG (see all 100)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491462891,2
    --58857883(+) CCAGGA/GGTTCA 1 -- ds50010--------
    rs1838538181,2
    C--58857945(+) GCCAGA/GCGTGG 1 -- ds50010--------
    rs1881764881,2
    --58858036(+) AGCCGC/GACTGC 1 -- ds50010--------
    rs1432313211,2
    C--58858218(+) AAAGAC/TATTTT 1 -- ut310--------
    rs32146631,2
    C--58858232(-) GAGAG-/GCTCTG 1 -- ut314Minor allele frequency- G:0.10NA CSA 10
    rs2021325471,2
    C--58858238(-) TGTGAA/GGAGAG 1 -- ut310--------
    rs3679147951,2
    C--58858297(+) GACCCC/TGGCCT 1 -- ut310--------
    rs2008701811,2
    --58858377(+) TGGGCC/TCGCGG 1 -- ut310--------
    rs1112517821,2
    C--58858398(+) TTTCTA/G/TGACAA 1 -- int11CSA 1
    rs1813687851,2
    --58858489(+) CCCCCC/GGGAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for A1BG (58856544 - 58864865 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for A1BG:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833887CNV Loss17160897
    nsv817878CNV Loss17921354
    dgv4031n71CNV Loss21882294
    nsv833888CNV Loss17160897
    dgv4030n71CNV Loss21882294
    nsv515731CNV Gain+Loss19592680

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    (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.)
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    OMIM gene information: 138670    OMIM disorders: --

    13 diseases for A1BG:    
    About MalaCards
    pancreatic ductal adenocarcinoma    otosclerosis    steroid-resistant nephrotic syndrome    respiratory failure
    otitis media    cholesteatoma    hepatoblastoma    nephrotic syndrome
    pancreatitis    adenocarcinoma    rheumatoid arthritis    arthritis
    lung cancer

    2 diseases from the University of Copenhagen DISEASES database for A1BG:
    Cholesteatoma     Otosclerosis

    A1BG for disorders           About GeneDecksing


    Export disorders for A1BG gene to outside databases

    (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)
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    PubMed articles for A1BG gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with A1BG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma. (PubMed id 15461460)1, 2, 9 Udby L.... Kjeldsen L. (Biochemistry 2004)
    2. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (Oncogene 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (Proteomics 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. (PubMed id 2591067)1, 3 Eiberg H....Mohr J. (Clin. Genet. 1989)
    8. Amino acid sequence of human plasma alpha 1B-glycoprotein: homology to the immunoglobulin supergene family. (PubMed id 3458201)1, 2 Ishioka N.... Putnam F.W. (Proc. Natl. Acad. Sci. U.S.A. 1986)
    9. Human CRISP-3 binds serum alpha(1)B-glycoprotein across species. (PubMed id 20116414)1, 9 Udby L....Borregaard N. (Biochim. Biophys. Acta 2010)
    10. Identification of novel autoantigen in the synovial fluid of rheumatoid arthritis patients using an immunoproteomics approach. (PubMed id 23418544)1 Biswas S....Asif A.R. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1 HGNC: 5 AceView: A1BGandZNF497 Ensembl:ENSG00000121410 euGenes: HUgn1
    ECgene: A1BG H-InvDB: A1BG

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for A1BG Pharmacogenomics, SNPs, Pathways
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=alpha1B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for A1BG gene:
    Search GeneIP for patents involving A1BG

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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