• Gene id: 462

Gene Summary

• Gene Symbol: SERPINC1   Gene   UCSC   Ensembl
• Aliases: AT3, AT3D, ATIII, THPH7
• Gene name: serpin family C member 1
• Alternate names: antithrombin-III, serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1, serpin peptidase inhibitor clade C member 1, serpin peptidase inhibitor, clade C (antithrombin), member 1,
• Gene location: 1q25.1 (173917377: 173903803)     Exons: 8     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. T
• OMIM: 107300

SNPs

rs1799941

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7630105G>A
NC_000017.10   g.7533423G>A
NG_011981.2   g.21042G>A
NM_001146281.2   c.-68G>A
NM_001146279.2   c.-68G>A
NM_001146280.2   c.-68G>A
NM_001289116.1   c.-324G>A|SEQ=[G/A]|GENE=SHBG

rs6259

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7633209G>A
NC_000017.10   g.7536527G>A
NG_011981.2   g.24146G>A
NM_001040.5   c.1066G>A
NM_001040.4   c.1066G>A
NM_001040.3   c.1066G>A
NM_001146279.3   c.1012G>A
NM_001146279.2   c.1012G>A
NM_001146279.1   c.1012G>A
NM_001146280.3   c.858G>A
NM_0011462  

Protein Summary

• Protein general information: P01008  
  • Name: Antithrombin III (ATIII) (Serpin C1)
  • Length: 464  
  • Mass: 52,602
• Sequence:

  MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEA
  TNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQ
  IHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNK
  TEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQ
  VLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDL
  FSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLN
  TIIFMGRVANPCVK

• Structural information:
  • Interpro: IPR033829  IPR015555  IPR023795  IPR023796  IPR000215   IPR036186  
  • Prosite: PS00284
  • CDD: cd02045
  • PDB: 1ANT 1ATH 1AZX 1BR8 1DZG 1DZH 1E03 1E04 1E05 1JVQ 1LK6 1NQ9 1OYH 1R1L 1SR5 1T1F 1TB6 2ANT 2B4X 2B5T 2BEH 2GD4 2HIJ 2ZNH 3EVJ 3KCG 4EB1
  • PDBsum: 1ANT 1ATH 1AZX 1BR8 1DZG 1DZH 1E03 1E04 1E05 1JVQ 1LK6 1NQ9 1OYH 1R1L 1SR5 1T1F 1TB6 2ANT 2B4X 2B5T 2BEH 2GD4 2HIJ 2ZNH 3EVJ 3KCG 4EB1
  • DIP: 38009
  • STRING: ENSP00000356671
• Other Databases: GeneCards:  SERPINC1  Malacards:  SERPINC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:2000266	regulation of blood coagulation, intrinsic pathway	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:2000266	regulation of blood coagulation, intrinsic pathway	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Cancer (meningeal)	GAD: 20406964
Hypertension	GAD: 1685742
Thromboembolism	GAD: 17244682
Thrombosis	GAD: 8735803
Deep vein thrombosis	KEGG: H01723
Thrombophilia	KEGG: H00223
Thrombophilia	OMIM: 107300
Antithrombin III deficiency	KEGG: H01381
Alzheimer's disease	GAD: 19141999
Chorioamnionitis	GAD: 20452482
Pregnancy loss	GAD: 19004141
Polycystic ovary syndrome (PCOS)	INFBASE: 19253106
Hypogonadotropic hypogonadism	MIK: 18591887
Male subfertility	MIK: 25248658
Male factor infertility	MIK: 18591887
Female infertility	INFBASE: 18591887
Idiopathic hypogonadotropic hypogonadism	MIK: 18591887
Male subfertility	MIK: 25248658

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18591887	Idiopathic hypogonadotropic hypogonadism			37 (17 IHH, 20 controls)	Male infertility	FV FX and AT III
18591887	Idiopathic hypogonadotropic hypogonadism (IHH)			37 (17 with IHH, 20 age-matched healthy controls)	Male infertility	FV FX ATIII
25248658	Male subfertility			126 (67 normozoospermia, 14 oligozoospermia, 25 asthenozoospermia, 20 oligoasthenozoospermia)	Male infertility	Fibronectin ?1 -acid glycoprotein ?1 -antitrypsin immunoglobulin G and antithrombin III