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

Gene ID: 866, updated on 15-Dec-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
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 Apr 4 07:08:55 2018

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
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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_001756.4NP_001747.3  corticosteroid-binding globulin precursor

    Status: REVIEWED

    Source sequence(s)
    AL117259
    Consensus CDS
    CCDS9924.1
    Related
    ENSP00000342850.3, ENST00000341584.3
    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

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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