InnateDB Protein
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IDBP-18139.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SERPINA6
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Protein Name
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serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
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Synonyms
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CBG;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000342850
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InnateDB Gene
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IDBG-18137 (SERPINA6)
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Protein Structure
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Function |
Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species. {ECO:0000269PubMed:18513745}.
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Subcellular Localization |
Secreted.
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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.
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Tissue Specificity |
Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004867
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serine-type endopeptidase inhibitor activity
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GO:0005496
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steroid binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR023796
Serpin domain
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PFAM |
PF00079
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PRINTS |
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PIRSF |
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SMART |
SM00093
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TIGRFAMs |
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Modification |
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SwissProt |
P08185
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PhosphoSite |
PhosphoSite-P08185
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TrEMBL |
G3V4V7
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UniProt Splice Variant |
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Entrez Gene |
866
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UniGene |
Hs.532635
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RefSeq |
NP_001747
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HUGO |
HGNC:1540
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OMIM |
122500
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CCDS |
CCDS9924
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HPRD |
00419
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IMGT |
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EMBL |
AK290821
AL117259
BC056259
BC058021
CH471061
J02943
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GenPept |
AAB59523
AAH56259
AAH58021
BAF83510
EAW81568
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