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Aliases for SERPINA6 Gene

Aliases for SERPINA6 Gene

  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6 2 3
  • Transcortin 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6 2 3
  • Corticosteroid Binding Globulin 2 3
  • Serpin A6 3 4
  • CBG 3 4
  • Corticosteroid-Binding Globulin 3
  • CBG, 6

External Ids for SERPINA6 Gene

Previous Symbols for SERPINA6 Gene

  • CBG

Summaries for SERPINA6 Gene

Entrez Gene Summary for SERPINA6 Gene

  • 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]

GeneCards Summary for SERPINA6 Gene

SERPINA6 (Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 6) is a Protein Coding gene. Diseases associated with SERPINA6 include corticosteroid-binding globulin deficiency and prostate disease. Among its related pathways are Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and steroid binding. An important paralog of this gene is SERPINA10.

UniProtKB/Swiss-Prot for SERPINA6 Gene

  • Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.

Gene Wiki entry for SERPINA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINA6 Gene

Genomics for SERPINA6 Gene

Genomic Location for SERPINA6 Gene

Start:
94,304,248 bp from pter
End:
94,323,394 bp from pter
Size:
19,147 bases
Orientation:
Minus strand

Genomic View for SERPINA6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA6 Gene

Regulatory Elements for SERPINA6 Gene

Proteins for SERPINA6 Gene

  • Protein details for SERPINA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08185-CBG_HUMAN
    Recommended name:
    Corticosteroid-binding globulin
    Protein Accession:
    P08185
    Secondary Accessions:
    • A8K456
    • Q7Z2Q9

    Protein attributes for SERPINA6 Gene

    Size:
    405 amino acids
    Molecular mass:
    45141 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINA6 Gene

neXtProt entry for SERPINA6 Gene

Proteomics data for SERPINA6 Gene at MOPED

Post-translational modifications for SERPINA6 Gene

  • Glycosylation in position Asn-260 is needed for steroid binding
  • N-glycosylated; binds 5 oligosaccharide chains
  • Glycosylation at Asn31, Asn96, Asn176, Asn260, Asn330, and Asn369

Other Protein References for SERPINA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINA6 Gene

Domains for SERPINA6 Gene

Gene Families for SERPINA6 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINA6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08185

UniProtKB/Swiss-Prot:

CBG_HUMAN
Domain:
  • Proteolytic cleavage leads to an important conformation change. This reduces the affinity for steroids.:
    • P08185
Family:
  • Belongs to the serpin family.:
    • P08185
genes like me logo Genes that share domains with SERPINA6: view

Function for SERPINA6 Gene

Molecular function for SERPINA6 Gene

UniProtKB/Swiss-Prot Function: Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.

Gene Ontology (GO) - Molecular Function for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS 3299377
GO:0005496 steroid binding IDA 18513745
genes like me logo Genes that share ontologies with SERPINA6: view
genes like me logo Genes that share phenotypes with SERPINA6: view

Animal Models for SERPINA6 Gene

MGI Knock Outs for SERPINA6:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SERPINA6 Gene

Localization for SERPINA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINA6 Gene COMPARTMENTS Subcellular localization image for SERPINA6 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SERPINA6: view

Pathways for SERPINA6 Gene

genes like me logo Genes that share pathways with SERPINA6: view

Pathways by source for SERPINA6 Gene

Interacting Proteins for SERPINA6 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000342850%0d%0a9606.ENSP00000305529%0d%0a9606.ENSP00000346839%0d%0a9606.ENSP00000053867%0d%0a9606.ENSP00000306245%0d%0a
Selected Interacting proteins: ENSP00000342850 for SERPINA6 Gene via STRING

Gene Ontology (GO) - Biological Process for SERPINA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0008211 glucocorticoid metabolic process IEA --
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030162 regulation of proteolysis --
genes like me logo Genes that share ontologies with SERPINA6: view

Compounds for SERPINA6 Gene

(18) Drugbank Compounds for SERPINA6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
carrier
Alclometasone
66734-13-2 carrier binder
Beclometasone dipropionate
  • beclometasone 17,21-dipropionate
5534-09-8 carrier binder
Ciclesonide
141845-82-1 carrier binder
Flumethasone Pivalate
2002-29-1 carrier binder

(57) Novoseek inferred chemical compound relationships for SERPINA6 Gene

Compound -log(P) Hits PubMed IDs
femovan 78.4 1
marvelon 76.9 4
gestodene 76.1 6
desogestrel 76.1 8
pcbg 73.2 3
genes like me logo Genes that share compounds with SERPINA6: view

Transcripts for SERPINA6 Gene

mRNA/cDNA for SERPINA6 Gene

Unigene Clusters for SERPINA6 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5
SP1: - -
SP2:
SP3: -

Relevant External Links for SERPINA6 Gene

GeneLoc Exon Structure for
SERPINA6
ECgene alternative splicing isoforms for
SERPINA6

Expression for SERPINA6 Gene

mRNA expression in normal human tissues for SERPINA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA6 Gene

This gene is overexpressed in Liver (48.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINA6 Gene

SOURCE GeneReport for Unigene cluster for SERPINA6 Gene Hs.532635

mRNA Expression by UniProt/SwissProt for SERPINA6 Gene

P08185-CBG_HUMAN
Tissue specificity: Plasma; synthesized in liver. Has also been identified in a number of glycocorticoid responsive cells
genes like me logo Genes that share expressions with SERPINA6: view

Orthologs for SERPINA6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SERPINA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINA6 35
  • 99.09 (n)
  • 98.02 (a)
SERPINA6 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINA6 35
  • 79.87 (n)
  • 68.92 (a)
SERPINA6 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINA6 35
  • 79.98 (n)
  • 69.98 (a)
SERPINA6 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpina6 35
  • 72.06 (n)
  • 58.75 (a)
Serpina6 16
Serpina6 36
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINA6 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 33 (a)
OneToMany
-- 36
  • 28 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpina6 35
  • 72.34 (n)
  • 61.26 (a)
Species with no ortholog for SERPINA6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SERPINA6 Gene

ENSEMBL:
Gene Tree for SERPINA6 (if available)
TreeFam:
Gene Tree for SERPINA6 (if available)

Paralogs for SERPINA6 Gene

Pseudogenes.org Pseudogenes for SERPINA6 Gene

genes like me logo Genes that share paralogs with SERPINA6: view

Variants for SERPINA6 Gene

Sequence variations from dbSNP and Humsavar for SERPINA6 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs9115 -- 94,304,442(-) TTCCT(A/G)GCGAG synonymous-codon, reference
rs715033 -- 94,324,301(-) GATCA(A/C/G/T)TCAGT upstream-variant-2KB
rs941599 -- 94,322,004(-) GCCAC(A/G)TCTGG intron-variant
rs941600 -- 94,321,973(-) GGTGG(A/G)TGGAG intron-variant
rs941601 -- 94,305,204(-) GAGTC(A/G)CTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINA6 Gene

Variant ID Type Subtype PubMed ID
nsv832862 CNV Gain 17160897
nsv470662 CNV Gain 18288195

Relevant External Links for SERPINA6 Gene

HapMap Linkage Disequilibrium report
SERPINA6
Human Gene Mutation Database (HGMD)
SERPINA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA6 Gene

Disorders for SERPINA6 Gene

(1) OMIM Diseases for SERPINA6 Gene (122500)

UniProtKB/Swiss-Prot

CBG_HUMAN
  • Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]: Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. {ECO:0000269 PubMed:10634411, ECO:0000269 PubMed:1504007, ECO:0000269 PubMed:17245537, ECO:0000269 PubMed:8212073}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SERPINA6 Gene

(33) Novoseek inferred disease relationships for SERPINA6 Gene

Disease -log(P) Hits PubMed IDs
hypercortisolemia 63.7 1
hypercortisolism 54 1
social stress 38.2 3
response acute phase 34.9 4
insulin resistance 30.8 22

Relevant External Links for SERPINA6

Genetic Association Database (GAD)
SERPINA6
Human Genome Epidemiology (HuGE) Navigator
SERPINA6
genes like me logo Genes that share disorders with SERPINA6: view

Publications for SERPINA6 Gene

  1. A Leu-->His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. (PMID: 1504007) Smith C.L. … Hammond G.L. (J. Steroid Biochem. Mol. Biol. 1992) 3 4 23 25
  2. Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PMID: 10634411) Emptoz-Bonneton A. … Pugeat M. (J. Clin. Endocrinol. Metab. 2000) 3 4 23 25
  3. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. (PMID: 7912884) Byth B.C. … Cox D.W. (Am. J. Hum. Genet. 1994) 2 3 23
  4. Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. (PMID: 8212073) van Baelen H. … Hammond G.L. (Steroids 1993) 3 4 23
  5. A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis. (PMID: 11161981) Borgmann S. … Fricke H. (Clin. Immunol. 2001) 3 23 48

Products for SERPINA6 Gene

Sources for SERPINA6 Gene

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