• Gene id: 6906

Gene Summary

• Gene Symbol: SERPINA7   Gene   UCSC   Ensembl
• Aliases: TBG, TBGQTL
• Gene name: serpin family A member 7
• Alternate names: thyroxine-binding globulin, T4-binding globulin, mutant serpin family A member 7, serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7, serpin A7, serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitr,
• Gene location: Xq22.3 (106038726: 106032434)     Exons: 4     NC_000023.11
• Gene summary(Entrez): There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone tr
• OMIM: 314200

Protein Summary

• Protein general information: P05543  
  • Name: Thyroxine binding globulin (Serpin A7) (T4 binding globulin)
  • Length: 415  
  • Mass: 46325
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MSPFLYLVLLVLGLHATIHCASPEGKVTACHSSQPNATLYKMSSINADFAFNLYRRFTVETPDKNIFFSPVSISA
  ALVMLSFGACCSTQTEIVETLGFNLTDTPMVEIQHGFQHLICSLNFPKKELELQIGNALFIGKHLKPLAKFLNDV
  KTLYETEVFSTDFSNISAAKQEINSHVEMQTKGKVVGLIQDLKPNTIMVLVNYIHFKAQWANPFDPSKTEDSSSF
  LIDKTTTVQVPMMHQMEQYYHLVDMELNCTVLQMDYSKNALALFVLPKEGQMESVEAAMSSKTLKKWNRLLQKGW
  VDLFVPKFSISATYDLGATLLKMGIQHAYSENADFSGLTEDNGLKLSNAAHKAVLHIGEKGTEAAAVPEVELSDQ
  PENTFLHPIIQIDRSFMLLILERSTRSILFLGKVVNPTEA

• Structural information:
  • Interpro: IPR023795  IPR023796  IPR000215  IPR036186  IPR042178   IPR042185  
  • Prosite: PS00284
  • PDB: 2CEO 2RIV 2RIW 2XN3 2XN5 2XN6 2XN7 4X30 4YIA
  • PDBsum: 2CEO 2RIV 2RIW 2XN3 2XN5 2XN6 2XN7 4X30 4YIA
  • STRING: ENSP00000329374
• Other Databases: GeneCards:  SERPINA7  Malacards:  SERPINA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070327	thyroid hormone transport	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Diabetic ketoacidosis	PMID:6768790
Hyperthyroidism	PMID:2505856
diabetes mellitus	PMID:8742570
type 1 diabetes mellitus	PMID:1867879
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)