CleftGeneDB-Search

Gene: Serpina6

Basic information

Tag	Content
Uniprot ID	Q06770
Entrez ID	12401
Genbank protein ID	CAA49934.1
Genbank nucleotide ID	NM_007618.3
Ensembl protein ID	ENSMUSP00000044033
Ensembl nucleotide ID	ENSMUSG00000060807
Gene name	Corticosteroid-binding globulin
Gene symbol	Serpina6
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.
Sequence	MSLALYTCLF WLCTSGLWTT QAVTDEDSSS HRDLAPTNVD FAFNLYKRLV ALNSDKNTLI 60 SPVSISMALA MLSLSTRGST QYLENLGFNM SKMSEAEIHQ GFQYLNSLLQ QSDTGLEMNM 120 GNVMFLLQNL KLKDSFLADT KHYYESEALT IPSKDWTKAG EQINNHVKNK TQGKIEHVVS 180 DLDSSATLIL INYIFLKGIW KLPFSPENTR EEDFYVNETS TVKVPMMVQS GNISYFRDSA 240 IPCQMVQMNY VGNGTTFIIL PDQGQMDTVV AALNRDTIDR WGKLMIPRQM NLYIPKFSMS 300 DTYDLQDVLA DVGIKDLFTN QSDFADTTKD TPLTLTVLHK AMLQLDEGNV LPAATNGPPV 360 HLPSESFTLK YNRPFIFLAF DKYTWSSLMM SQVMNPA 397

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	SERPINA6	513746	E1BF81			Bos taurus	Prediction	More>>
1:1 ortholog	SERPINA11	490838	F1PHS2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SERPINA6	102171661	A0A452FGE5			Capra hircus	Prediction	More>>
1:1 ortholog	SERPINA6	866	P08185			Homo sapiens	Publication	More>>
1:1 ortholog	Serpina6	12401	Q06770			Mus musculus	Prediction	More>>
1:1 ortholog	SERPINA6	453131	H2Q8V1			Pan troglodytes	Prediction	More>>
1:1 ortholog	Serpina6	299270	P31211			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
SERPINA6	rs11627651	PCR-RFLP	22072571
SERPINA6	rs2228541	PCR-RFLP	22072571
SERPINA6	rs2281519	PCR-RFLP	22072571

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004867	serine-type endopeptidase inhibitor activity	IBA
GO:0005496	steroid binding	ISO
GO:0005496	steroid binding	IMP
GO:0005496	steroid binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0008211	glucocorticoid metabolic process	IMP
GO:0010951	negative regulation of endopeptidase activity	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IMP
GO:0005615	extracellular space	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-194002	Glucocorticoid biosynthesis	IEA
R-MMU-196071	Metabolism of steroid hormones	IEA
R-MMU-556833	Metabolism of lipids	IEA
R-MMU-8957322	Metabolism of steroids	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0325	Glycoprotein
KW-0446	Lipid-binding
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