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Aliases for SERPINA7 Gene

Aliases for SERPINA7 Gene

  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 2 3
  • TBG 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 2 3
  • Thyroxine-Binding Globulin 2 3
  • Thyroxin-Binding Globulin 2 3
  • T4-Binding Globulin 3 4
  • Serpin A7 3 4
  • Alpha-1 Antiproteinase 2
  • Antitrypsin 2

External Ids for SERPINA7 Gene

Previous Symbols for SERPINA7 Gene

  • TBG

Summaries for SERPINA7 Gene

Entrez Gene Summary for SERPINA7 Gene

  • 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 transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]

GeneCards Summary for SERPINA7 Gene

SERPINA7 (Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7) is a Protein Coding gene. Diseases associated with SERPINA7 include thyroxine-binding globulin deficiency and placental insufficiency. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and hormone binding. An important paralog of this gene is SERPINA10.

UniProtKB/Swiss-Prot for SERPINA7 Gene

  • Major thyroid hormone transport protein in serum

Gene Wiki entry for SERPINA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINA7 Gene

Genomics for SERPINA7 Gene

Genomic Location for SERPINA7 Gene

Start:
106,032,442 bp from pter
End:
106,038,738 bp from pter
Size:
6,297 bases
Orientation:
Minus strand

Genomic View for SERPINA7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA7 Gene

Regulatory Elements for SERPINA7 Gene

Proteins for SERPINA7 Gene

  • Protein details for SERPINA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05543-THBG_HUMAN
    Recommended name:
    Thyroxine-binding globulin
    Protein Accession:
    P05543
    Secondary Accessions:
    • D3DUX1

    Protein attributes for SERPINA7 Gene

    Size:
    415 amino acids
    Molecular mass:
    46325 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINA7 Gene

neXtProt entry for SERPINA7 Gene

Proteomics data for SERPINA7 Gene at MOPED

Post-translational modifications for SERPINA7 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn36, Asn99, Ile116, Asn165, and Asn253

Other Protein References for SERPINA7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINA7 Gene

Domains for SERPINA7 Gene

Gene Families for SERPINA7 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINA7 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

THBG_HUMAN
Family:
  • Belongs to the serpin family.:
    • P05543
genes like me logo Genes that share domains with SERPINA7: view

Function for SERPINA7 Gene

Molecular function for SERPINA7 Gene

UniProtKB/Swiss-Prot Function: Major thyroid hormone transport protein in serum

Gene Ontology (GO) - Molecular Function for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS 3094014
GO:0042562 hormone binding IEA --
genes like me logo Genes that share ontologies with SERPINA7: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SERPINA7 Gene

Localization for SERPINA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA7 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINA7 Gene COMPARTMENTS Subcellular localization image for SERPINA7 gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SERPINA7: view

Pathways for SERPINA7 Gene

SuperPathways for SERPINA7 Gene

No Data Available

Interacting Proteins for SERPINA7 Gene

Gene Ontology (GO) - Biological Process for SERPINA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IEA --
GO:0009791 post-embryonic development IEA --
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030162 regulation of proteolysis --
GO:0031667 response to nutrient levels --
genes like me logo Genes that share ontologies with SERPINA7: view

No data available for Pathways by source for SERPINA7 Gene

Compounds for SERPINA7 Gene

(2) HMDB Compounds for SERPINA7 Gene

Compound Synonyms Cas Number PubMed IDs
Liothyronine
  • 3,3',5-Triiodo-L-thyronine
6893-02-3
Thyroxine
  • (-)-Thyroxine
51-48-9

(3) Drugbank Compounds for SERPINA7 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Levothyroxine
  • (-)-Thyroxine
51-48-9 carrier
Liothyronine
  • L-Liothyronine
6893-02-3 carrier
Liotrix
8065-29-0 carrier

(64) Novoseek inferred chemical compound relationships for SERPINA7 Gene

Compound -log(P) Hits PubMed IDs
thyroxine 93.7 255
triiodothyronine 90.3 125
t4 sulfate 82.1 3
iodine 56.9 13
iodide 44.3 3
genes like me logo Genes that share compounds with SERPINA7: view

Transcripts for SERPINA7 Gene

mRNA/cDNA for SERPINA7 Gene

Unigene Clusters for SERPINA7 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:

Relevant External Links for SERPINA7 Gene

GeneLoc Exon Structure for
SERPINA7
ECgene alternative splicing isoforms for
SERPINA7

Expression for SERPINA7 Gene

mRNA expression in normal human tissues for SERPINA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA7 Gene

This gene is overexpressed in Liver (52.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINA7 Gene

SOURCE GeneReport for Unigene cluster for SERPINA7 Gene Hs.76838

mRNA Expression by UniProt/SwissProt for SERPINA7 Gene

P05543-THBG_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma
genes like me logo Genes that share expressions with SERPINA7: view

Orthologs for SERPINA7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERPINA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINA7 36
  • 99.76 (n)
  • 99.76 (a)
SERPINA7 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINA7 36
  • 88.78 (n)
  • 84.03 (a)
SERPINA7 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINA7 36
  • 87.79 (n)
  • 83.59 (a)
TBG 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpina7 36
  • 81.8 (n)
  • 76.57 (a)
Serpina7 16
Serpina7 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 44 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpina7 36
  • 81.64 (n)
  • 77.05 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11271 36
Species with no ortholog for SERPINA7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SERPINA7 Gene

ENSEMBL:
Gene Tree for SERPINA7 (if available)
TreeFam:
Gene Tree for SERPINA7 (if available)

Paralogs for SERPINA7 Gene

Pseudogenes.org Pseudogenes for SERPINA7 Gene

genes like me logo Genes that share paralogs with SERPINA7: view

Variants for SERPINA7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA7 Gene

P05543-THBG_HUMAN
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

Sequence variations from dbSNP and Humsavar for SERPINA7 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1050084 -- 106,037,041(-) CTGTA(C/T)CTGGT synonymous-codon, reference
rs1050086 other, - 106,036,488(-) TTCAA(A/G)ACCTC missense, reference
rs1804495 other, - 106,034,370(-) GACTT(G/T)TTTGT reference, missense
rs2187799 -- 106,039,077(+) AGTGG(A/G)ATTGG upstream-variant-2KB
rs2234031 -- 106,038,161(-) GGCAA(A/C)TTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINA7 Gene

Variant ID Type Subtype PubMed ID
esv2752312 CNV Gain 17911159
nsv521259 CNV Gain 19592680
nsv7022 CNV Insertion 18451855
nsv528467 CNV Gain 19592680

Relevant External Links for SERPINA7 Gene

HapMap Linkage Disequilibrium report
SERPINA7
Human Gene Mutation Database (HGMD)
SERPINA7
Locus Specific Mutation Databases (LSDB)
SERPINA7

Disorders for SERPINA7 Gene

UniProtKB/Swiss-Prot

THBG_HUMAN
  • 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:0000269 PubMed:1294376, ECO:0000269 PubMed:1515456, ECO:0000269 PubMed:1901689, ECO:0000269 PubMed:1906047, ECO:0000269 PubMed:2155256, ECO:0000269 PubMed:2501669}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(50) Novoseek inferred disease relationships for SERPINA7 Gene

Disease -log(P) Hits PubMed IDs
tbg, serum 97.4 63
hyperthyroxinemia 88.8 9
low t3 syndrome 80.5 1
hypothyroidism 74.4 14
hyperthyroidism 71.5 13
genes like me logo Genes that share disorders with SERPINA7: view

Publications for SERPINA7 Gene

  1. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. (PMID: 1515456) Bertenshaw R. … Refetoff S. (Biochim. Biophys. Acta 1992) 3 4 23
  2. Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family. (PMID: 1294376) Shirotani T. … Shichiri M. (Endocrinol. Jpn. 1992) 3 4 23
  3. The structure of the human thyroxine binding globulin (TBG) gene. (PMID: 8268226) Akbari M.T. … Ramsden D.B. (Biochim. Biophys. Acta 1993) 3 4 23
  4. Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. (PMID: 2155256) Mori Y. … Refetoff S. (J. Clin. Endocrinol. Metab. 1990) 3 4 23
  5. Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. (PMID: 9510125) Carvalho G.A. … Refetoff S. (Thyroid 1998) 3 23

Products for SERPINA7 Gene

Sources for SERPINA7 Gene

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