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SERPINA7 serpin family A member 7 [ Homo sapiens (human) ]

Gene ID: 6906, updated on 12-Mar-2017
Official Symbol
SERPINA7provided by HGNC
Official Full Name
serpin family A member 7provided by HGNC
Primary source
HGNC:HGNC:11583
See related
Ensembl:ENSG00000123561 MIM:314200; Vega:OTTHUMG00000022144
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TBG; TBGQTL
Summary
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]
Orthologs
Location:
Xq22.3
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (106032439..106038727, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (105277190..105282718, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Nik related kinase Neighboring gene uncharacterized LOC105373304 Neighboring gene uncharacterized LOC105373305 Neighboring gene CTD small phosphatase like 2 pseudogene Neighboring gene MUM1 like 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ17820

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
thyroxine-binding globulin
Names
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, antitrypsin), member 7
thyroxin-binding globulin

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021252.1 RefSeqGene

    Range
    5001..10529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000354.5NP_000345.2  thyroxine-binding globulin precursor

    See identical proteins and their annotated locations for NP_000345.2

    Status: REVIEWED

    Source sequence(s)
    BC020747, BJ996322, T78892
    Consensus CDS
    CCDS14518.1
    UniProtKB/Swiss-Prot
    P05543
    Related
    ENSP00000361644, OTTHUMP00000023779, ENST00000372563, OTTHUMT00000057791
    Conserved Domains (1) summary
    cd02056
    Location:46409
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    106032439..106038727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724683.2XP_006724746.1  thyroxine-binding globulin isoform X1

    See identical proteins and their annotated locations for XP_006724746.1

    Conserved Domains (1) summary
    cd02056
    Location:46419
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
  2. XM_005262180.3XP_005262237.1  thyroxine-binding globulin isoform X2

    See identical proteins and their annotated locations for XP_005262237.1

    Conserved Domains (1) summary
    cd02056
    Location:46354
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    105188486..105194014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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