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

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; AllianceGenome:HGNC:1540
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: mouse all
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Genomic context

Location:: 14q32.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (94304248..94323336, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (88531534..88550620, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (94770585..94789673, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Position-specific N- and O-glycosylation of the reactive center loop impacts neutrophil elastase-mediated proteolysis of corticosteroid-binding globulin.
Title: Position-specific N- and O-glycosylation of the reactive center loop impacts neutrophil elastase-mediated proteolysis of corticosteroid-binding globulin.
Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk.
Title: Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk.
Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample.
Title: Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample.
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Title: Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Pyrexia and acidosis act independently of neutrophil elastase reactive center loop cleavage to effect cortisol release from corticosteroid-binding globulin.
Title: Pyrexia and acidosis act independently of neutrophil elastase reactive center loop cleavage to effect cortisol release from corticosteroid-binding globulin.
Here, we show that these issues can be addressed concurrently, using the serpin human a1-antichymotrypsin (ACT) as a model. We have introduced up to 15 amino acid substitutions into ACT, converting it into a surrogate corticosteroid-binding globulin (CBG), thereby creating a new binding globulin (NewBG).
Title: NewBG: A surrogate corticosteroid-binding globulin with an unprecedentedly high ligand release efficacy.
Low circulating haCBG concentrations are associated with mortality in septic shock
Title: Total and high-affinity corticosteroid-binding globulin depletion in septic shock is associated with mortality.
Mass spectrometry confirmed the absence of neutrophil elastase (NE)-cleaved corticosteroid-binding globulin (CBG) in plasma in which ELISA values were highly discordant.
Title: Neutrophil elastase-cleaved corticosteroid-binding globulin is absent in human plasma.
N-glycans at other sites also appear to protect CBG from neutrophil elastase or chymotrypsin.
Title: Functional implications of corticosteroid-binding globulin N-glycosylation.
We generated weighted polygenic risk score (PRS) based on 6 genome-wide significant SNPs (rs11621961, rs11629171, rs7161521, rs2749527, rs3762132, rs4900229). salivary cortisol increased in the high PRS group. It remained unchanged in low PRS group. These results were mainly driven by minor alleles of rs7161521 (SERPINA6) and rs4900229 (SERPINA1).
Title: Polygenic risk score of SERPINA6/SERPINA1 associates with diurnal and stress-induced HPA axis activity in children.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17576 (e-PCR)
- UniSTS:78336

SHGC-12744 (e-PCR)
- UniSTS:25691

GDB:378193 (e-PCR)
- UniSTS:157073

D14S1141 (e-PCR)
- UniSTS:154572

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables steroid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in glucocorticoid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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

NG_011796.2 RefSeqGene

Range

5000..24088

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001756.4 → NP_001747.3 corticosteroid-binding globulin precursor

Status: REVIEWED

Source sequence(s)

AL117259

Consensus CDS

CCDS9924.1

UniProtKB/Swiss-Prot

A8K456, P08185, Q7Z2Q9

UniProtKB/TrEMBL

A0A2Z4LCH4

Related

ENSP00000342850.3, ENST00000341584.4

Conserved Domains (1) summary

cd02056
Location:42 → 401

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, ...