Endometriosis Knowledgebase

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Gene id

866

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SERPINA6 Gene UCSC Ensembl

Aliases

CBG

Gene name

serpin family A member 6

Alternate names

corticosteroid-binding globulin, serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6, serpin A6, serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6, transcortin,

Gene location

14q32.13 (94323350: 94304247) Exons: 5 NC_000014.9

Gene summary(Entrez)

This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]

OMIM

122500

Protein Summary

Protein general information

P08185

Name: Corticosteroid binding globulin (CBG) (Serpin A6) (Transcortin)

Length: 405 Mass: 45,141

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

Sequence

MPLLLYTCLLWLPTSGLWTVQAMDPNAAYVNMSNHHRGLASANVDFAFSLYKHLVALSPKKNIFISPVSISMALA
MLSLGTCGHTRAQLLQGLGFNLTERSETEIHQGFQHLHQLFAKSDTSLEMTMGNALFLDGSLELLESFSADIKHY
YESEVLAMNFQDWATASRQINSYVKNKTQGKIVDLFSGLDSPAILVLVNYIFFKGTWTQPFDLASTREENFYVDE
TTVVKVPMMLQSSTISYLHDSELPCQLVQMNYVGNGTVFFILPDKGKMNTVIAALSRDTINRWSAGLTSSQVDLY
IPKVTISGVYDLGDVLEEMGIADLFTNQANFSRITQDAQLKSSKVVHKAVLQLNEEGVDTAGSTGVTLNLTSKPI
ILRFNQPFIIMIFDHFTWSSLFLARVMNPV

Structural information

Interpro:	IPR023795 IPR023796 IPR000215
Prosite:	PS00284
Pfam:	PF00079
PDB:	2VDX 2VDY 4BB2 4C41 4C49
PDBsum:	2VDX 2VDY 4BB2 4C41 4C49
STRING:	ENSP00000342850;

Other Databases

GeneCards: SERPINA6; Malacards: SERPINA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005496	steroid binding	IDA	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0008211	glucocorticoid metabolic process	IEA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005496	steroid binding	IEA	molecular_function
GO:0005496	steroid binding	IEA	molecular_function
GO:0005496	steroid binding	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0008211	glucocorticoid metabolic process	IEA	biological_process
GO:0008289	lipid binding	IEA	molecular_function
GO:0010951	negative regulation of en dopeptidase activity	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular_function
GO:0005496	steroid binding	IDA	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Chronic fatigue syndrome	PMID: 15554358
Endometriosis	PMID: 11893012
Female infertility	PMID: 8540288
Juvenile arthritis	PMID: 12154211
Luteal phase defects (LPD)	PMID: 8540288
Ovarian endometriosis	INFBASE7734053
Obesity	PMID: 16222046
Ovarian endometriosis	PMID: 7734053

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
7734053	Endometrio sis (ovari an)					SHBG CBG	Show abstract