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    A1BG alpha-1-B glycoprotein [ Homo sapiens (human) ]

    Gene ID: 1, updated on 11-Apr-2024

    Summary

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    Official Symbol
    A1BGprovided by HGNC
    Official Full Name
    alpha-1-B glycoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:5
    See related
    Ensembl:ENSG00000121410 MIM:138670; AllianceGenome:HGNC:5
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A1B; ABG; GAB; HYST2477
    Summary
    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]
    Orthologs
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    Genomic context

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    Location:
    19q13.43
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58345183..58353492, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61441599..61449907, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58856549..58864858, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372480 Neighboring gene zinc finger protein 470 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58838245-58838987 Neighboring gene zinc finger and SCAN domain containing 22 Neighboring gene microRNA 6806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58849877-58850378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58858160-58858660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58858661-58859161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15186 Neighboring gene A1BG antisense RNA 1 Neighboring gene zinc finger protein 446 pseudogene Neighboring gene zinc finger protein 497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58873404-58873952 Neighboring gene ZNF497 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 473

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Discovery and initial validation of α 1-B glycoprotein fragmentation as a differential urinary biomarker in pediatric steroid-resistant nephrotic syndrome. Piyaphanee N, et al. Proteomics Clin Appl, 2011 Jun. PMID 21591266, Free PMC Article
    2. Genetic polymorphism of human plasma alpha 1B-glycoprotein: phenotyping by immunoblotting or by a simple method of 2-D electrophoresis. Gahne B, et al. Hum Genet, 1987 Jun. PMID 3610142
    3. Linkage between alpha 1B-glycoprotein (A1BG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of A1BG. Eiberg H, et al. Clin Genet, 1989 Dec. PMID 2591067
    4. Integrative proteomics and tissue microarray profiling indicate the association between overexpressed serum proteins and non-small cell lung cancer. Liu Y, et al. PLoS One, 2012. PMID 23284758, Free PMC Article
    5. Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma. Udby L, et al. Biochemistry, 2004 Oct 12. PMID 15461460

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. cardiovascular outcomes may differ based on A1BG genotype, and antihypertensive treatment strategy.
      Title: Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12, A1BG, and the selectin region and cardiovascular outcomes.
    2. Data indicate that five important proteins, vimentin, gelsolin, alpha 2 HS glycoprotein (AHSG), glial fibrillary acidic protein (GFAP), and alpha1B-glycoprotein (A1BG) were expressed higher in Rheumatoid arthritis (RA) synovial fluid than non-RA samples.
      Title: Identification of novel autoantigen in the synovial fluid of rheumatoid arthritis patients using an immunoproteomics approach.
    3. Overexpression of serum A1BG is associated with non-small cell lung cancer.
      Title: Integrative proteomics and tissue microarray profiling indicate the association between overexpressed serum proteins and non-small cell lung cancer.
    4. an 11-fold upregulated 13.8 kDa fragment of alpha 1-B glycoprotein (A1BG) as a biomarker for steroid-resistant nephrotic syndrome
      Title: Discovery and initial validation of α 1-B glycoprotein fragmentation as a differential urinary biomarker in pediatric steroid-resistant nephrotic syndrome.
    5. Complex binding of CRISP proteins by A1BG and other proteins may interfere with the detection and function of these proteins.
      Title: Human CRISP-3 binds serum alpha(1)B-glycoprotein across species.
    6. MMP-9, DJ-1 and A1BG proteins are overexpressed in pancreatic juice from pancreatic ductal adenocarcinoma
      Title: Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.
    7. A1BG-cysteine-rich secretory protein 3 complex displays a similar function in protecting the circulation from a potentially harmful effect of free CRISP-3
      Title: Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ZNF497

    Homology

    Clone Names

    • DKFZp686F0970

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-1B-glycoprotein
    Names
    HEL-S-163pA
    epididymis secretory sperm binding protein Li 163pA

    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.

    mRNA and Protein(s)

    1. NM_130786.4 → NP_570602.2  alpha-1B-glycoprotein precursor

      See identical proteins and their annotated locations for NP_570602.2

      Status: REVIEWED

      Source sequence(s)
      AB073611, AC012313, AK056201
      Consensus CDS
      CCDS12976.1
      UniProtKB/Swiss-Prot
      A8K052, P04217, Q68CK0, Q8IYJ6, Q96P39
      UniProtKB/TrEMBL
      V9HWD8
      Related
      ENSP00000263100.2, ENST00000263100.8
      Conserved Domains (4) summary
      cd05751
      Location:401 → 493
      Ig1_LILRB1_like; First immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors (LILR)B1 (also known as LIR-1) and similar proteins
      smart00410
      Location:218 → 280
      IG_like; Immunoglobulin like
      pfam13895
      Location:210 → 301
      Ig_2; Immunoglobulin domain
      cl11960
      Location:28 → 110
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      58345183..58353492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61441599..61449907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04217.4 GenPept UniProtKB/Swiss-Prot:P04217

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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