Human Gene SERPINA7 (ENST00000327674.8_5) from GENCODE V47lift37
  Description: Major thyroid hormone transport protein in serum. (from UniProt P05543)
Gencode Transcript: ENST00000327674.8_5
Gencode Gene: ENSG00000123561.15_9
Transcript (Including UTRs)
   Position: hg19 chrX:105,276,433-105,281,385 Size: 4,953 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chrX:105,277,491-105,281,049 Size: 3,559 Coding Exon Count: 4 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:105,276,433-105,281,385)mRNA (may differ from genome)Protein (415 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MalacardsMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: THBG_HUMAN
DESCRIPTION: RecName: Full=Thyroxine-binding globulin; AltName: Full=Serpin A7; AltName: Full=T4-binding globulin; Flags: Precursor;
FUNCTION: Major thyroid hormone transport protein in serum.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
POLYMORPHISM: Two qualitative TBG variants occur in particular populations. TBG-A is found in 40% of Australian aborigines, it has reduced affinity for thyroxine and triiodothyroxine and increased susceptibility to inactivation by heat or acid. TBG-S ('s' for slow shift on isoelectic focusing) is found in blacks, Eskimos, Melanesians, Polynesians and Indonesians, but not in Caucasians; TBG-S is slightly more thermolabile.
DISEASE: Defects in SERPINA7 are a cause of 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.
SIMILARITY: Belongs to the serpin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SERPINA7
Diseases sorted by gene-association score: hyperthyroxinemia (22), hyperthyroidism (14), euthyroid sick syndrome (14), endemic goiter (14), subacute thyroiditis (13), dysalbuminemic hyperthyroxinemia (13), hypothyroidism (13), goiter (10), thyroid gland disease (9), congenital disorder of glycosylation, type ia (9), thyroid hormone resistance (9), graves disease 1 (9), thyroiditis (9), corticosteroid-binding globulin deficiency (8), graves' disease (7), peliosis hepatis (6), dyshormonogenic goiter (6), toxic diffuse goiter (6), hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia (5), nontoxic goiter (5), placental insufficiency (5), autoimmune disease of endocrine system (4), chromophobe adenoma (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.87 RPKM in Liver
Total median expression: 43.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.90336-0.211 Picture PostScript Text
3' UTR -245.701058-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000295 - Prot_inh_Lserp2
IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam

Pfam Domains:
PF00079 - Serpin (serine protease inhibitor)

SCOP Domains:
56574 - Serpins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CEO - X-ray MuPIT 2RIV - X-ray MuPIT 2RIW - X-ray MuPIT 2XN3 - X-ray MuPIT 2XN5 - X-ray MuPIT 2XN6 - X-ray MuPIT 2XN7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P05543
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004867 serine-type endopeptidase inhibitor activity

Biological Process:
GO:0010951 negative regulation of endopeptidase activity
GO:0070327 thyroid hormone transport

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  KJ892254 - Synthetic construct Homo sapiens clone ccsbBroadEn_01648 SERPINA7 gene, encodes complete protein.
KR711216 - Synthetic construct Homo sapiens clone CCSBHm_00021254 SERPINA7 (SERPINA7) mRNA, encodes complete protein.
KR711217 - Synthetic construct Homo sapiens clone CCSBHm_00021256 SERPINA7 (SERPINA7) mRNA, encodes complete protein.
KR711218 - Synthetic construct Homo sapiens clone CCSBHm_00021258 SERPINA7 (SERPINA7) mRNA, encodes complete protein.
KR711219 - Synthetic construct Homo sapiens clone CCSBHm_00021264 SERPINA7 (SERPINA7) mRNA, encodes complete protein.
LF211677 - JP 2014500723-A/19180: Polycomb-Associated Non-Coding RNAs.
LF385355 - JP 2014500723-A/192858: Polycomb-Associated Non-Coding RNAs.
M14091 - Human thyroxine-binding globulin mRNA, complete cds.
JD083734 - Sequence 64758 from Patent EP1572962.
BC020747 - Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7, mRNA (cDNA clone MGC:22587 IMAGE:4716693), complete cds.
M31218 - Human thyroxine-binding globulin (TBG) mRNA, 3' end.
JD214156 - Sequence 195180 from Patent EP1572962.
DQ891987 - Synthetic construct clone IMAGE:100004617; FLH182096.01X; RZPDo839C07138D serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7) gene, encodes complete protein.
KX898029 - Homo sapiens mutant serpin family A member 7 mRNA, complete cds.
DQ895177 - Synthetic construct Homo sapiens clone IMAGE:100009637; FLH182092.01L; RZPDo839C07137D serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7) gene, encodes complete protein.
AK310778 - Homo sapiens cDNA, FLJ17820.
CU676686 - Synthetic construct Homo sapiens gateway clone IMAGE:100022293 5' read SERPINA7 mRNA.
JD288720 - Sequence 269744 from Patent EP1572962.
JD376894 - Sequence 357918 from Patent EP1572962.
JD109240 - Sequence 90264 from Patent EP1572962.
JD232072 - Sequence 213096 from Patent EP1572962.
JD464449 - Sequence 445473 from Patent EP1572962.
JD400013 - Sequence 381037 from Patent EP1572962.
MA620932 - JP 2018138019-A/192858: Polycomb-Associated Non-Coding RNAs.
MA447254 - JP 2018138019-A/19180: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DUX1, ENST00000327674.1, ENST00000327674.2, ENST00000327674.3, ENST00000327674.4, ENST00000327674.5, ENST00000327674.6, ENST00000327674.7, M14091, P05543, TBG, THBG_HUMAN, uc317sih.1, uc317sih.2
UCSC ID: ENST00000327674.8_5
RefSeq Accession: NM_000354.6
Protein: P05543 (aka THBG_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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