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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5624
Gene name Protein C, inactivator of coagulation factors Va and VIIIa
Gene symbol PROC
Synonyms (NCBI Gene)
APCPCPROC1THPH3THPH4
Chromosome 2
Chromosome location 2q14.3
Summary 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
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs121918148 A>C Pathogenic Coding sequence variant, missense variant
rs121918149 G>A Pathogenic Coding sequence variant, missense variant
rs369504169 G>A Likely-pathogenic Coding sequence variant, missense variant
rs754243426 G>A Likely-pathogenic Splice acceptor variant, intron variant, coding sequence variant, missense variant
rs757583846 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1265030 hsa-miR-3682-5p CLIP-seq
MIRT1265031 hsa-miR-3907 CLIP-seq
MIRT1265032 hsa-miR-4797-3p CLIP-seq
MIRT1265033 hsa-miR-552 CLIP-seq
MIRT1265034 hsa-miR-764 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
ONECUT1 Activation 9553065
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IMP 25748729
GO:0004252 Function Serine-type endopeptidase activity TAS 15005336
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612283 9451 ENSG00000115718
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04070
Protein 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]
Protein function Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265). Exerts a protective effect on the endothelial cell barr
PDB 1AUT , 1LQV , 3F6U , 3JTC , 4DT7 , 6M3B , 6M3C , 8JRU , 8JRV , 9BVM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00594 Gla 47 → 87 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain Domain
PF00008 EGF 96 → 130 EGF-like domain Domain
PF14670 FXa_inhibition 140 → 175 Domain
PF00089 Trypsin 212 → 445 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Plasma; synthesized in the liver.
Sequence
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades   Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Cell surface interactions at the vascular wall
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal thrombosis Likely pathogenic; Pathogenic rs121918149 RCV000852081
Cerebral palsy Likely pathogenic; Pathogenic rs121918149 RCV001794425
Deep venous thrombosis Likely pathogenic; Pathogenic rs369504169, rs1553424043, rs1321566264, rs777486993 RCV000851677
RCV000851641
RCV000851918
RCV000852197
Hereditary thrombophilia due to congenital protein C deficiency Likely pathogenic; Pathogenic rs121918146, rs757583846, rs2468379908 RCV003985071
RCV005429227
RCV003595846
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs1878844 RCV005921537
Cholangiocarcinoma Benign rs1878844 RCV005921538
Hereditary angioedema with normal C1Inh not provided rs1573442078 RCV001027424
Malignant tumor of esophagus Benign rs1878844 RCV005921536
Show/Hide Text Mining Associations (117)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
18 Hydroxylase deficiency Associate 15114590, 25651845, 31490209, 33761690
Abruptio Placentae Associate 20334530
Activated Protein C Resistance Associate 21564075, 25196808
Anemia Sickle Cell Associate 11972526, 22052675, 9332318
Aneurysm Associate 35627118
Antiphospholipid Syndrome Associate 25196808
Antiphospholipid Syndrome Inhibit 7814631
Antithrombin deficiency type 2 Associate 24162787
Antithrombin III Deficiency Inhibit 11292195
Antithrombin III Deficiency Associate 22443383, 30637129, 30975910