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    SERPINA6 serpin family A member 6 [ Homo sapiens (human) ]

    Gene ID: 866, updated on 2-Oct-2018

    Summary

    Official Symbol
    SERPINA6provided by HGNC
    Official Full Name
    serpin family A member 6provided by HGNC
    Primary source
    HGNC:HGNC:1540
    See related
    Ensembl:ENSG00000170099 MIM:122500; Vega:OTTHUMG00000171346
    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
    CBG
    Summary
    This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 177.4), gall bladder (RPKM 27.4) and 1 other tissue See more
    Orthologs

    Genomic context

    See SERPINA6 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (94304248..94323351, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94770585..94789688, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 4 regulatory subunit 4 Neighboring gene serpin family A member 10 Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene serpin family A member 1

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Corticosteroid-binding globulin deficiency
    MedGen: C1852529 OMIM: 611489 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    glucocorticoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    corticosteroid-binding globulin
    Names
    serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
    serpin A6
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
    transcortin

    NCBI Reference Sequences (RefSeq)

    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_011796.1 RefSeqGene

      Range
      5001..24104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001756.3NP_001747.2  corticosteroid-binding globulin precursor

      See identical proteins and their annotated locations for NP_001747.2

      Status: REVIEWED

      Source sequence(s)
      AV689566, BC017462, BC058021
      Consensus CDS
      CCDS9924.1
      UniProtKB/Swiss-Prot
      P08185
      Related
      ENSP00000342850.3, OTTHUMP00000245861, ENST00000341584.3, OTTHUMT00000413065
      Conserved Domains (1) summary
      cd02056
      Location:42401
      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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      94304248..94323351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      1418810..1437913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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