• Gene id: 5624

Gene Summary

• Gene Symbol: PROC   Gene   UCSC   Ensembl
• Aliases: APC, PC, PROC1, THPH3, THPH4
• Gene name: protein C, inactivator of coagulation factors Va and VIIIa
• Alternate names: vitamin K-dependent protein C, Protein C-Nagoya, activated protein C, anticoagulant protein C, autoprothrombin IIA, blood coagulation factor XIV, prepro-protein C, type I protein C,
• Gene location: 2q14.3 (127418142: 127429245)     Exons: 8     NC_000002.12
• Gene summary(Entrez): This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated f
• OMIM: 612283

Protein Summary

• Protein general information: P04070  
  • Name: Vitamin K dependent protein C (EC 3.4.21.69) (Anticoagulant protein C) (Autoprothrombin IIA) (Blood coagulation factor XIV) [Cleaved into: Vitamin K dependent protein C light chain; Vitamin K dependent protein C heavy chain; Activation peptide]
  • Length: 461  
  • Mass: 52071
  • Tissue specificity: Plasma; synthesized in the liver.
• Sequence:

  MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQN
  VDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHY
  CLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPW
  QVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDI
  ALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSE
  VMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIR
  DKEAPQKSWAP

• Structural information:
  • Protein Domains: (43..8-)
    (/note="Gla-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00463-)
    (97..13-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (136..17-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR017857  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR035972  IPR000294  IPR012224  IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS00011 PS50998 PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1AUT 1LQV 1PCU 2PCT 3F6U 3JTC 4DT7
  • PDBsum: 1AUT 1LQV 1PCU 2PCT 3F6U 3JTC 4DT7
  • STRING: ENSP00000234071
• Other Databases: GeneCards:  PROC  Malacards:  PROC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0030195	negative regulation of blood coagulation	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IMP	molecular function
GO:1903142	positive regulation of establishment of endothelial barrier	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0050819	negative regulation of coagulation	IMP	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007599	hemostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0006508	proteolysis	NAS	biological process
GO:0005576	extracellular region	NAS	cellular component
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0030195	negative regulation of blood coagulation	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Inherited thrombophilia	KEGG:H00223
Deep vein thrombosis	KEGG:H01723
Inherited thrombophilia	KEGG:H00223
Deep vein thrombosis	KEGG:H01723
Thrombosis	PMID:8073406
Pre-eclampsia	PMID:9065198
Thrombotic thrombocytopenic purpura	PMID:10936861
Intravascular coagulation	PMID:10936861
Central retinal vein occlusion	PMID:20688738
Thrombophilia	PMID:25196808
Asthma	PMID:26381519
Antiphospholipid syndrome	PMID:25196808
Protein C deficiency	PMID:8128429
Myocardial infarction	PMID:10936861
Pulmonary embolism	PMID:10936861
Placental abruption	PMID:9855597
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq