PROC (protein C, inactivator of coagulation factors Va and VIIIa)

2007-02-01  

Identity

HGNC
LOCATION
2q14.3
LOCUSID
ALIAS
APC,PC,PROC1,THPH3,THPH4

Other Information

Locus ID:

NCBI: 5624
MIM: 612283
HGNC: 9451
Ensembl: ENSG00000115718

Variants:

dbSNP: 5624
ClinVar: 5624
TCGA: ENSG00000115718
COSMIC: PROC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115718ENST00000234071P04070
ENSG00000115718ENST00000402125H7BYX9
ENSG00000115718ENST00000409048E7END6
ENSG00000115718ENST00000419985F2Z2A0
ENSG00000115718ENST00000427769E7EU72
ENSG00000115718ENST00000429925E7EVH6
ENSG00000115718ENST00000431364F2Z2A0
ENSG00000115718ENST00000442644E7ENR9

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteinsREACTOMER-HSA-159854
Gamma-carboxylation of protein precursorsREACTOMER-HSA-159740
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatusREACTOMER-HSA-159763
Removal of aminoterminal propeptides from gamma-carboxylated proteinsREACTOMER-HSA-159782
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875
Cell surface interactions at the vascular wallREACTOMER-HSA-202733

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165290929ethinyl estradiol / norelgestrominChemicalLabelAnnotationassociated
PA165816542CYP2C9*1HaplotypeLabelAnnotationassociated
PA165816543CYP2C9*2HaplotypeLabelAnnotationassociated
PA165816544CYP2C9*3HaplotypeLabelAnnotationassociated
PA166155091rs9923231VariantLabelAnnotationassociated
PA166179849avatrombopagChemicalLabelAnnotationassociated
PA166182748lusutrombopagChemicalLabelAnnotationassociated
PA166190221estradiol / progesteroneChemicalLabelAnnotationassociated
PA28660GGCXGenePathwayassociated
PA450921phenprocoumonChemicalClinicalAnnotationassociatedPKPD
PA451906warfarinChemicalLabelAnnotation, VariantAnnotationambiguousPD19794411

References

Pubmed IDYearTitleCitations
120529632002Activation of endothelial cell protease activated receptor 1 by the protein C pathway.247
125633162003Activated protein C blocks p53-mediated apoptosis in ischemic human brain endothelium and is neuroprotective.169
157106222005Activated protein C mediates novel lung endothelial barrier enhancement: role of sphingosine 1-phosphate receptor transactivation.153
179824642007Activated protein C protects against diabetic nephropathy by inhibiting endothelial and podocyte apoptosis.133
170480072007Association of warfarin dose with genes involved in its action and metabolism.100
151785542004Thrombomodulin-protein C-EPCR system: integrated to regulate coagulation and inflammation.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
157697472005Protease-activated receptor-1 signaling by activated protein C in cytokine-perturbed endothelial cells is distinct from thrombin signaling.73
155169292004Tissue plasminogen activator neurovascular toxicity is controlled by activated protein C.72
156650022005PAR1 cleavage and signaling in response to activated protein C and thrombin.63

Citation

Dessen P

PROC (protein C, inactivator of coagulation factors Va and VIIIa)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46329/proc