Version 5.4
Homo sapiens Protein: SERPINA7
Summary
InnateDB Protein IDBP-81096.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINA7
Protein Name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
Synonyms TBG;
Species Homo sapiens
Ensembl Protein ENSP00000361644
InnateDB Gene IDBG-81094 (SERPINA7)
Protein Structure
UniProt Annotation
Function Major thyroid hormone transport protein in serum.
Subcellular Localization Secreted.
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.
Tissue Specificity Expressed by the liver and secreted in plasma.
Comments
Interactions
Number of Interactions 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]
Protein-DNA 0
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
Biological Process
GO:0010951 negative regulation of endopeptidase activity
GO:0030162 regulation of proteolysis
GO:0070327 thyroid hormone transport
Cellular Component
GO:0005576 extracellular region
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR023796 Serpin domain
PFAM PF00079
PRINTS
PIRSF
SMART SM00093
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P05543
PhosphoSite PhosphoSite-P05543
TrEMBL
UniProt Splice Variant
Entrez Gene 6906
UniGene Hs.76838
RefSeq NP_000345
HUGO HGNC:11583
OMIM 314200
CCDS CCDS14518
HPRD 02438
IMGT
EMBL BC020747 CH471120 L13470 M14091 X64171 Z83850
GenPept AAA16067 AAA60616 AAH20747 CAA45509 CAB06092 EAX02747 EAX02748

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca