A1BG: Alpha-1-B Glycoprotein
A plasma glycoprotein of unknown function, implicated in various cancers and inflammatory conditions.
Gene Information Card
| Symbol | A1BG |
|---|---|
| Full Name | Alpha-1-B Glycoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 1 ncbi.nlm.nih.gov/gene/1 |
| Ensembl ID | ENSG00000121410 |
| UniProt ID | P04217 |
| OMIM ID | 138670 |
| HGNC ID | 5 |
| Aliases | A1B, ABG, GAB, HYST2477 |
Description
A1BG (Alpha-1-B Glycoprotein) is a protein-coding gene located on chromosome 19q13.43. The encoded protein is a plasma glycoprotein of unknown function, though it is known to be expressed in the liver and secreted into the bloodstream. It has been implicated in various cancers and inflammatory conditions, and its expression is regulated by the transcription factor HNF1A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Elevated A1BG expression is associated with poor prognosis; may promote tumor progression via immune modulation. | ClinVar, COSMIC |
| Lung cancer | A1BG is overexpressed in non-small cell lung cancer; potential biomarker for diagnosis. | NCBI Gene, COSMIC |
| Inflammatory bowel disease | A1BG levels are altered in serum of IBD patients, suggesting a role in inflammation. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 337.8 | High |
| Pancreas | 12.5 | Low |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Heart | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 337.8 | Liver cancer cell line; high expression |
| A549 | 6.1 | Lung cancer cell line; low expression |
| MCF7 | 2.3 | Breast cancer cell line; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign; no known functional effect |
| c.214C>T | Missense | <0.01% | Uncertain significance; reported in ClinVar |
| c.1000G>A | Missense | <0.01% | Reported in COSMIC; no known functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported for A1BG.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for A1BG.
Dominant Negative (DN)
No dominant-negative mutations reported for A1BG.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 - extracellular region | • GO:0005615 - extracellular space |
| • GO:0005515 - protein binding | • GO:0006953 - acute-phase response |
Pathways
• No curated pathways in Reactome or KEGG for A1BG.
Protein Summary
Alpha-1-B glycoprotein (A1BG) is a 495-amino acid secreted plasma glycoprotein with a molecular weight of approximately 54 kDa. It contains five immunoglobulin-like domains and is heavily glycosylated. Its biological function remains unclear, but it is thought to be involved in acute-phase responses and immune modulation. A1BG is primarily produced by the liver and is a major component of human plasma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| A1BG Knockout HEK293 Cell Line | EDJ-KQ3305 | Human | 1 | Details Get a Quote |
| A1BG Knockout A-549 Cell Line | EDJ-KQ24893 | Human | 1 | Details Get a Quote |
| A1BG Knockout HeLa Cell Line | EDJ-KQ77836 | Human | 1 | Details Get a Quote |
| A1BG Knockout HCT 116 Cell Line | EDJ-KQ77837 | Human | 1 | Details Get a Quote |
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