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    SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 [ Homo sapiens (human) ]

    Gene ID: 6906, updated on 30-Jun-2015
    Official Symbol
    SERPINA7provided by HGNC
    Official Full Name
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7provided by HGNC
    Primary source
    HGNC:HGNC:11583
    See related
    Ensembl:ENSG00000123561; HPRD:02438; 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
    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
    See SERPINA7 in Epigenomics, MapViewer
    Location:
    Xq22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (106033199..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 (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene Neighboring gene melanoma associated antigen (mutated) 1-like 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • FLJ17820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to prostaglandin E IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A 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 IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    thyroxine-binding globulin
    Names
    T4-binding globulin
    serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
    serpin A7
    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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      106033199..106038727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724683.1XP_006724746.1  

      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  

      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
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)