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

Gene ID: 6906, updated on 9-Dec-2024

Summary

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; AllianceGenome:HGNC:11583
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]
Expression
Restricted expression toward liver (RPKM 70.5) See more
Orthologs
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Genomic context

See SERPINA7 in Genome Data Viewer
Location:
Xq22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106032435..106038727, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (104464373..104470665, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (105276426..105282718, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Nik related kinase Neighboring gene uncharacterized LOC105373304 Neighboring gene HNF1 motif-containing MPRA enhancer 3 Neighboring gene uncharacterized LOC105373305 Neighboring gene CTDSPL2 pseudogene 2 Neighboring gene PWWP domain containing 3B

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ17820

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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..11293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000354.6NP_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, Z83850
    Consensus CDS
    CCDS14518.1
    UniProtKB/Swiss-Prot
    D3DUX1, P05543
    UniProtKB/TrEMBL
    A0A3G1HEF1
    Related
    ENSP00000361644.1, ENST00000372563.2
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    106032435..106038727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724683.3XP_006724746.1  thyroxine-binding globulin isoform X1

    See identical proteins and their annotated locations for XP_006724746.1

    UniProtKB/TrEMBL
    A0A3G1HEF1
    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_005262180.5XP_005262237.1  thyroxine-binding globulin isoform X2

    See identical proteins and their annotated locations for XP_005262237.1

    UniProtKB/TrEMBL
    A0A3G1HEF1
    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 T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    104464373..104470665 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327656.1XP_054183631.1  thyroxine-binding globulin isoform X1

    UniProtKB/TrEMBL
    A0A3G1HEF1
  2. XM_054327657.1XP_054183632.1  thyroxine-binding globulin isoform X2

    UniProtKB/TrEMBL
    A0A3G1HEF1