Gene: SERPINA6

Basic information

Tag Content
Uniprot ID P08185; A8K456; Q7Z2Q9;
Entrez ID 866
Genbank protein ID EAW81568.1; AAH56259.1; AAB59523.1; AAH58021.1; BAF83510.1;
Genbank nucleotide ID NM_001756.3
Ensembl protein ID ENSP00000342850; ENSP00000484501;
Ensembl nucleotide ID ENSG00000277405; ENSG00000170099;
Gene name Corticosteroid-binding globulin
Gene symbol SERPINA6
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 22072571
Functional description Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.
Sequence
MPLLLYTCLL WLPTSGLWTV QAMDPNAAYV NMSNHHRGLA SANVDFAFSL YKHLVALSPK 60
KNIFISPVSI SMALAMLSLG TCGHTRAQLL QGLGFNLTER SETEIHQGFQ HLHQLFAKSD 120
TSLEMTMGNA LFLDGSLELL ESFSADIKHY YESEVLAMNF QDWATASRQI NSYVKNKTQG 180
KIVDLFSGLD SPAILVLVNY IFFKGTWTQP FDLASTREEN FYVDETTVVK VPMMLQSSTI 240
SYLHDSELPC QLVQMNYVGN GTVFFILPDK GKMNTVIAAL SRDTINRWSA GLTSSQVDLY 300
IPKVTISGVY DLGDVLEEMG IADLFTNQAN FSRITQDAQL KSSKVVHKAV LQLNEEGVDT 360
AGSTGVTLNL TSKPIILRFN QPFIIMIFDH FTWSSLFLAR VMNPV 405

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSERPINA6513746E1BF81Bos taurusPredictionMore>>
1:1 orthologSERPINA11490838F1PHS2Canis lupus familiarisPredictionMore>>
1:1 orthologSERPINA6102171661A0A452FGE5Capra hircusPredictionMore>>
1:1 orthologSERPINA6866P08185Homo sapiensPublicationMore>>
1:1 orthologSerpina612401Q06770Mus musculusPredictionMore>>
1:1 orthologSERPINA6453131H2Q8V1Pan troglodytesPredictionMore>>
1:1 orthologSerpina6299270P31211Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
SERPINA6rs11627651PCR-RFLP22072571
SERPINA6rs2228541PCR-RFLP22072571
SERPINA6rs2281519PCR-RFLP22072571

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004867 serine-type endopeptidase inhibitor activityIBA
GO:0005496 steroid bindingIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0008211 glucocorticoid metabolic processIEA
GO:0010951 negative regulation of endopeptidase activityIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005615 extracellular spaceHDA
GO:0005615 extracellular spaceIBA
GO:0070062 extracellular exosomeHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-194002 Glucocorticoid biosynthesisTAS
R-HSA-196071 Metabolism of steroid hormonesTAS
R-HSA-556833 Metabolism of lipidsTAS
R-HSA-8957322 Metabolism of steroidsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0446 Lipid-binding
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0754 Steroid-binding
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
IPR042178 Serpin_sf_1
IPR042185 Serpin_sf_2

PROSITE

PROSITE ID PROSITE Term
PS00284 SERPIN

Pfam

Pfam ID Pfam Term
PF00079 Serpin

Protein-protein interaction