InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPINA6

Summary

InnateDB Protein

IDBP-18139.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SERPINA6

Protein Name

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6

Synonyms

CBG;

Species

Homo sapiens

Ensembl Protein

ENSP00000342850

InnateDB Gene

IDBG-18137 (SERPINA6)

Protein Structure

UniProt Annotation

Function

Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species. {ECO:0000269PubMed:18513745}.

Subcellular Localization

Secreted.

Disease Associations

Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]: Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. {ECO:0000269PubMed:10634411, ECO:0000269PubMed:1504007, ECO:0000269PubMed:17245537, ECO:0000269PubMed:8212073}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005496	steroid binding

Biological Process

GO:0006810	transport
GO:0008211	glucocorticoid metabolic process
GO:0010951	negative regulation of endopeptidase activity
GO:0030162	regulation of proteolysis