InnateDB Protein
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IDBP-81098.6
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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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SERPINA7
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Protein Name
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serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
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Synonyms
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TBG;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000329374
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InnateDB Gene
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IDBG-81094 (SERPINA7)
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Protein Structure
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Function |
Major thyroid hormone transport protein in serum.
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Subcellular Localization |
Secreted.
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Disease Associations |
Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]: Mutations in the SERPINA7 gene can result as a whole spectrum of deficiencies, characterized by either reduced or increased TBG levels in the serum. Patients show, respectively, reduced or elevated protein-bound iodine but are euthyroid. {ECO:0000269PubMed:1294376, ECO:0000269PubMed:1515456, ECO:0000269PubMed:1901689, ECO:0000269PubMed:1906047, ECO:0000269PubMed:2155256, ECO:0000269PubMed:2501669}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed by the liver and secreted in plasma.
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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 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
|
Protein-Protein |
1
[view]
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Protein-DNA |
0
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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:0042562
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hormone 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 |
P05543
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PhosphoSite |
PhosphoSite-P05543
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6906
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UniGene |
Hs.76838
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RefSeq |
XP_005262237
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HUGO |
HGNC:11583
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OMIM |
314200
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CCDS |
CCDS14518
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HPRD |
02438
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IMGT |
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EMBL |
BC020747
CH471120
L13470
M14091
X64171
Z83850
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GenPept |
AAA16067
AAA60616
AAH20747
CAA45509
CAB06092
EAX02747
EAX02748
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