SERPINA6 Gene
protein-coding GIFtS : 60
GC14M093840
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: CBG )
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Aliases & Descriptions for SERPINA6
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CBG 2 , 3 , 5 Transcortin 3 transcortin 2
Descriptions Serpin A6 3 corticosteroid binding globulin 2 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 1 , 2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 2
Search outside databases for aliases for SERPINA6 genePrevious GC identifers: GC14M092277 GC14M088587 GC14M092760
Summaries for SERPINA6 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SERPINA6 : This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is themajor transport protein for glucorticoids and progestins in the blood of most vertebrates. Thegene localizes to a chromosomal region containing several closely related serine proteaseinhibitors which may have evolved by duplication events. [provided by RefSeq] UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 Function : Major transport protein for glucocorticoids and progestins in the blood of almost allvertebrate species
Gene Wiki entry for SERPINA6
Genomic Location for SERPINA6
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SERPINA6 gene Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.13 HGNC cytogenetic band: 14q31-q32.1 SERPINA6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14M093840:
(about GC identifiers )
Start:
93,840,338 bp from pter
End:
93,859,441 bp from pter
Size:
19,104 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000014.7 NT_026437.11 Proteins for SERPINA6
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 (See
protein sequence )Recommended Name: Corticosteroid-binding globulin precursor Size : 405 amino acids; 45141 Da
Subcellular location : Secreted
PDB structure from and Proteopedia : 2VDX (3D)
 2VDY (3D)
 
Secondary accessions : Q7Z2Q9
Post-translational modifications:
N-glycosylated; binds 5 oligosaccharide chains1
Glycosylation in position Asn-260 is needed for steroid binding1
REFSEQ proteins: NP_001747.2 ENSEMBL proteins: ENSP00000342850 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA -- GO:0005615 extracellular space
IEA --
About this table Antibodies for SERPINA6: Assays for SERPINA6:
Protein
Domains/ Families for SERPINA6(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P08185 ProtoNet protein and cluster: P08185
1 Blocks protein family : IPB000215 Serpin UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 Similarity : Belongs to the serpin family
Gene Function for SERPINA6
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001756 Applied Biosystems Silencer ® siRNAs for SERPINA6 Sigma-Aldrich siRNA and siRNA Panels for SERPINA6 Sigma-Aldrich shRNA for SERPINA6 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001756                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001756                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001756  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001756 UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 Function : Major transport protein for glucocorticoids and progestins in the blood of almost allvertebrate species
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Serpina6) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004867 serine-type endopeptidase inhibitor activity
TAS 3299377 GO:0005496 steroid binding
IEA --
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Pathways & Interactions for SERPINA6
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for SERPINA6 5/11 Interacting proteins for SERPINA6 (ENSP00000342850 3 ) via UniProtKB, MINT, and/or STRING (see all 11
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006810 transport
IEA -- GO:0008211 glucocorticoid metabolic process
IEA --
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Drugs & Compounds for SERPINA6 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Sigma-Aldrich Small Molecules for SERPINA6:Antagonist
Browse Tocris compounds for SERPINA6 10/26 Novoseek chemical compound relationships for SERPINA6 gene (see all 26
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
pcbg
73.69
5
1659892 (3)
acth
71.16
58
17904296 (4), 18694862 (4), 17327382 (3), 7641401 (2) (see all 25 )
1,5-difluoro-2,4-dinitrobenzene
69.24
12
7756349 (2), 1849837 (1)
steroid
65.54
104
19011238 (4), 11688946 (3), 1778174 (2), 1430842 (2) (see all 34 )
dehydroepiandrosterone sulfate
65.28
25
8827784 (4), 1620285 (2), 12699442 (1), 11518451 (1) (see all 13 )
androstenedione
60.98
10
12699442 (1), 16137729 (1), 7590643 (1), 8574256 (1) (see all 8 )
tsst
60.96
2
17904296 (2)
progesterone
57.71
64
8540288 (4), 2394772 (3), 10399051 (3), 8213224 (2) (see all 28 )
dhea
56.67
16
18694862 (3), 18271677 (2), 11522257 (2), 1620285 (1)
17-hydroxyprogesterone
55.28
4
7838905 (1), 8574256 (1), 8689882 (1)
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Transcripts for SERPINA6(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001756 Sigma-Aldrich siRNA and siRNA Panels for SERPINA6 Sigma-Aldrich shRNA for SERPINA6 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001756
REFSEQ mRNAs for SERPINA6 gene: NM_001756.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001756
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001756                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001756                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001756  
Additional cDNA sequence: AK225591.1 AK290821.1 AK313760.1 BC017462.1 BC036818.1 BC056259.1 BC058021.1 J02943.1
8 DOTS entries : DT.100736573 DT.113676 DT.432869 DT.92435954 DT.100022546 DT.92435952 DT.95161187 DT.92435951
24/138 AceView cDNA sequences (see all 138
):BI793291 R83169 AV661262 BP358843 C21275 BM922154 BM126924 AV660062 BP357113 AV661490 CB111934 BC056259 BG751249 BC036818 BI962629 BP359046 CB117007 BU075883 BP358115 BG432439 CB164016 BC058021 BP356970 AV659898
highest scoring ESTs for SERPINA6 :AA332640 AA334235 AA334896 BC017462 BC056259 BC058021 BG432064 BG432439 BG564910 BG751249
Unigene Cluster for SERPINA6: Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 Hs.532635 [show with all ESTs ] Unigene Representative Sequence: BC036818 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA6 ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 SP1 :     -       -         SP2 :                   SP3 :     -              
About this scheme ECgene alternative splicing isoforms for SERPINA6 1 Ensembl transcript including schematic representation : ENST00000341584
Expression for SERPINA6
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SERPINA6 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SERPINA6 1 / 2 / 3
3 probe-sets matching SERPINA6 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATCTTCGACCSOURCE GeneReport for Unigene cluster: Hs.532635 Expression variation in blood from EXPOLDB for SERPINA6
UniProtKB/Swiss-Prot: CBG_HUMAN, P08185 Tissue specificity : Plasma; synthesized in liver. Has also been identified in a number ofglycocorticoid responsive cells
Orthologs for SERPINA6
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SERPINA6 gene from 4 species
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
SERPINA61
--
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more
79.98(n) 69.98(a)
490838 XM_547960.2 XP_547960.2
chimpanzee (Pan troglodytes)
SERPINA61
--
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more
99.09(n) 98.02(a)
453131 XM_510143.2 XP_510143.2
rat (Rattus norvegicus)
Serpina61
--
serine (or cysteine) peptidase inhibitor, clade A, more
72.49(n) 61.77(a)
299270 NM_001009663.1 NP_001009663.1
mouse (Mus musculus)
Serpina61 , 5
12 (51.00 cM) 5
serine (or cysteine) peptidase inhibitor, clade A, more 1, 5
72.14(n) 1 59.09(a) 1
12401 1 NM_007618.2 1 NP_031644.1 1 AI265318 5 AK145842 5 (see all 11 )
About this table Species with no ortholog for SERPINA6 ENSEMBL Gene Tree for SERPINA6 Paralogs for SERPINA6 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SERPINA6 gene SERPINA4 2 SERPINA11 2 SERPINA7 2 SERPINA13 2 SERPINA12 2 SERPINA9 2
SNPs/Variants for SERPINA6 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SERPINA6 (up to first 250kb)
Disorders & Mutations for SERPINA6
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 122500 disorders : 611489 UniProtKB/Swiss-Prot: CBG_HUMAN, P08185
Defects in SERPINA6 are a cause of corticosteroid-binding globulin deficiency (CBGdeficiency) [MIM:611489]. CBG deficiency is an extremely rare hereditary disorder characterized byreduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulinconcentration, and normal or low basal cortisol levels associated with hypo/hypertension andmuscle fatigue
10/33 Novoseek disease relationships for SERPINA6 gene (see all 33
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
hypercortisolemia
65.42
1
9247983 (1)
hypercortisolism
48.08
3
18976646 (1)
social stress
40.64
3
9691975 (3)
insulin resistance
26.91
32
12364459 (5), 10651759 (4), 18949680 (4), 15171749 (3) (see all 7 )
insulin sensitivity
25.36
12
10651759 (4), 10487686 (2), 10726905 (1), 11586502 (1)
hyperthyroidism
25.28
2
17327382 (1), 8130892 (1)
response acute phase
24.13
3
12727952 (2), 9360537 (1)
shock septic
22.18
10
11685298 (3), 18976646 (2), 9360537 (2), 8440110 (1)
hepatoblastoma
14.59
1
10487686 (1)
sepsis
12.14
8
17578761 (3), 16973979 (1), 2370299 (1), 1504007 (1) (see all 5 )
About this table Human Gene Mutation Database : SERPINA6 Genetic Association Database: SERPINA6 Human Genome Epidemiology Navigator: SERPINA6 (7 documents)
Medical News for SERPINA6 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SERPINA6 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/289 PubMed articles for SERPINA6 gene (see all 289
): Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors. (PubMed id 3299377) 2, 3, 4 Hammond G.L.... Bardin C.W. (1987) Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. (PubMed id 10634411) 1, 3, 4 Emptoz-Bonneton A.... Pugeat M. (2000) A Leu-->His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. (PubMed id 1504007) 1, 3, 4 Smith C.L.... Hammond G.L. (1992) Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. (PubMed id 15554358) 1, 3, 6 Torpy D.J....Whitworth J.A. (2004) Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. (PubMed id 17245537) 1, 3, 4 Buss C.... Meyer J. (2007) Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. (PubMed id 8212073) 1, 3, 4 van Baelen H.... Hammond G.L. (1993) Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. (PubMed id 7912884) 1, 2, 3 Byth B.C....Cox D.W. (1994) Corticosteroid binding globulin gene polymorphism influences cortisol driven fat distribution in obese women. (PubMed id 16222046) 1, 3, 6 Barat P....Moisan M.P. (2005) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 3, 4 Liu T.... Smith R.D. (2005) Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718) 3, 4 Bunkenborg J.... Wisniewski J.R. (2004)
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Genome Databases showing SERPINA6
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SERPINA6
(According to HUGE )
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Specialized Databases showing SERPINA6 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Wikipedia http://en.wikipedia.org/wiki/Transcortin
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-- Services for SERPINA6 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for SERPINA6:
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009