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

Gene ID: 1, updated on 14-Nov-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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See A1BG in Genome Data Viewer
Location:
19q13.43
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58345183..58353492, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61441599..61449907, complement)
RS_2024_09 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. 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
  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. 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
  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 Variation Viewer (GRCh37.p13)

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

Process Evidence Code Pubs
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_2024_08

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.

Chemical Information
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