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

2007-02-01  

Identity

HGNC
PROC
LOCATION
2q14.3
LOCUSID
5624
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
379500502024Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.0
379500502024Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.0
365881342023APC ameliorates idiopathic membranous nephropathy by affecting podocyte apoptosis through the ERK1/2/YB-1/PLA2R1 axis.1
376575612023Design and characterization of novel activated protein C variants for the proteolysis of cytotoxic extracellular histone H3.2
376604362023Activated protein C, protein S, and tissue factor pathway inhibitor cooperate to inhibit thrombin activation.1
380158842023Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.0
381353612023Activated Protein C Prevents Neuronal Apoptosis via Protease Activated Receptors 1 and 3.0
365881342023APC ameliorates idiopathic membranous nephropathy by affecting podocyte apoptosis through the ERK1/2/YB-1/PLA2R1 axis.1
376575612023Design and characterization of novel activated protein C variants for the proteolysis of cytotoxic extracellular histone H3.2
376604362023Activated protein C, protein S, and tissue factor pathway inhibitor cooperate to inhibit thrombin activation.1
380158842023Computational analysis of the functional and structural impact of the most deleterious missense mutations in the human Protein C.0
381353612023Activated Protein C Prevents Neuronal Apoptosis via Protease Activated Receptors 1 and 3.0
349784312022How Thrombomodulin Enables W215A/E217A Thrombin to Cleave Protein C but Not Fibrinogen.0
350089422022Activated Protein C Protects against Murine Contact Dermatitis by Suppressing Protease-Activated Receptor 2.4
350310712022The prognostic utility of protein C as a biomarker for adult sepsis: a systematic review and meta-analysis.5

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