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Aliases for PROC Gene

Aliases for PROC Gene

  • Protein C (Inactivator Of Coagulation Factors Va And VIIIa) 2 3
  • Blood Coagulation Factor XIV 3 4
  • Anticoagulant Protein C 3 4
  • Autoprothrombin IIA 3 4
  • Prepro-Protein C 2 3
  • EC 3.4.21.69 4 63
  • THPH3 3 6
  • THPH4 3 6
  • PC 3 6
  • Vitamin K-Dependent Protein C 3
  • EC 3.4.21 63
  • PROC1 3
  • APC 3

External Ids for PROC Gene

Previous GeneCards Identifiers for PROC Gene

  • GC02P125475
  • GC02P126102
  • GC02P128080
  • GC02P128269
  • GC02P127892
  • GC02P128176
  • GC02P120483

Summaries for PROC Gene

Entrez Gene Summary for PROC Gene

  • 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 forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

GeneCards Summary for PROC Gene

PROC (Protein C (Inactivator Of Coagulation Factors Va And VIIIa)) is a Protein Coding gene. Diseases associated with PROC include thrombophilia due to protein c deficiency, autosomal dominant and thrombophilia due to protein c deficiency, autosomal recessive. Among its related pathways are Signaling by GPCR and Regulation of actin cytoskeleton. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is HP.

UniProtKB/Swiss-Prot for PROC Gene

  • 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.

Gene Wiki entry for PROC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROC Gene

Genomics for PROC Gene

Regulatory Elements for PROC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PROC Gene

Start:
127,418,420 bp from pter
End:
127,429,246 bp from pter
Size:
10,827 bases
Orientation:
Plus strand

Genomic View for PROC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PROC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROC Gene

Proteins for PROC Gene

  • Protein details for PROC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04070-PROC_HUMAN
    Recommended name:
    Vitamin K-dependent protein C
    Protein Accession:
    P04070
    Secondary Accessions:
    • B4DPQ7
    • Q15189
    • Q15190
    • Q16001
    • Q53S74
    • Q9UC55

    Protein attributes for PROC Gene

    Size:
    461 amino acids
    Molecular mass:
    52071 Da
    Quaternary structure:
    • Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin
    Miscellaneous:
    • Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independent binding site is necessary for the recognition of the thrombin-thrombomodulin complex
    SequenceCaution:
    • Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PROC Gene

    Alternative splice isoforms for PROC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PROC Gene

Proteomics data for PROC Gene at MOPED

Post-translational modifications for PROC Gene

  • May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide
  • N- and O-glycosylated. Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N-glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium
  • Glycosylation at Thr19, Asn139, Asn290, Asn355, and Asn371
  • Modification sites at PhosphoSitePlus

Other Protein References for PROC Gene

Antibody Products

  • R&D Systems Antibodies for PROC (Coagulation Factor XIV/Protein C)

Protein Products

Domains for PROC Gene

Gene Families for PROC Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P04070

UniProtKB/Swiss-Prot:

PROC_HUMAN :
  • P04070
Domain:
  • Contains 2 EGF-like domains.
  • Contains 1 Gla (gamma-carboxy-glutamate) domain.
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PROC: view

Function for PROC Gene

Molecular function for PROC Gene

GENATLAS Biochemistry: protein C,coagulation factor (FVa and FVIIIa inactivator),vitamin K-dependent
UniProtKB/Swiss-Prot CatalyticActivity: Degradation of blood coagulation factors Va and VIIIa
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PROC Gene

Gene Ontology (GO) - Molecular Function for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity TAS 15005336
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15248212
GO:0008233 peptidase activity --
genes like me logo Genes that share ontologies with PROC: view
genes like me logo Genes that share phenotypes with PROC: view

Animal Models for PROC Gene

MGI Knock Outs for PROC:

Animal Model Products

miRNA for PROC Gene

miRTarBase miRNAs that target PROC

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PROC

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PROC Gene

Localization for PROC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PROC Gene COMPARTMENTS Subcellular localization image for PROC gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 4
cytosol 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with PROC: view

Pathways for PROC Gene

SuperPathways for PROC Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
3 Formation of Fibrin Clot (Clotting Cascade)
4 Wnt signaling pathway (KEGG)
5 CDK-mediated phosphorylation and removal of Cdc6
.38
genes like me logo Genes that share pathways with PROC: view

Gene Ontology (GO) - Biological Process for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS --
GO:0007596 blood coagulation TAS --
GO:0017187 peptidyl-glutamic acid carboxylation TAS --
GO:0030195 negative regulation of blood coagulation TAS 15005336
GO:0043066 negative regulation of apoptotic process IMP 12563316
genes like me logo Genes that share ontologies with PROC: view

Compounds for PROC Gene

(2) HMDB Compounds for PROC Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Menadione
  • Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene
58-27-5

(3) Drugbank Compounds for PROC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Antihemophilic Factor
  • AHF
enzyme inactivator
Menadione
  • 2-Methyl-1,4-Naphthalenedione
58-27-5 target activator
Sodium Tetradecyl Sulfate
  • Monotetradecylsulfate sodium salt
1191-50-0 target inhibitor

(8) Novoseek inferred chemical compound relationships for PROC Gene

Compound -log(P) Hits PubMed IDs
gamma-carboxyglutamic acid 55.7 3
warfarin 47.7 5
serine 39.3 7
fibrinogen 38.8 6
phospholipid 25.3 2

(1) PharmGKB related drug/compound annotations for PROC Gene

Drug/compound Annotation
warfarin
genes like me logo Genes that share compounds with PROC: view

Transcripts for PROC Gene

Unigene Clusters for PROC Gene

Protein C (inactivator of coagulation factors Va and VIIIa):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PROC

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PROC Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - -
SP2:
SP3:
SP4: - - -

Relevant External Links for PROC Gene

GeneLoc Exon Structure for
PROC
ECgene alternative splicing isoforms for
PROC

Expression for PROC Gene

mRNA expression in normal human tissues for PROC Gene

mRNA differential expression in normal tissues according to GTEx for PROC Gene

This gene is overexpressed in Liver (48.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PROC Gene

SOURCE GeneReport for Unigene cluster for PROC Gene Hs.224698

mRNA Expression by UniProt/SwissProt for PROC Gene

P04070-PROC_HUMAN
Tissue specificity: Plasma; synthesized in the liver
genes like me logo Genes that share expressions with PROC: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PROC Gene

Orthologs for PROC Gene

This gene was present in the common ancestor of animals.

Orthologs for PROC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROC 35
  • 99.64 (n)
  • 99.78 (a)
PROC 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PROC 35
  • 81.91 (n)
  • 73.96 (a)
PROC 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC476104 35
  • 85.6 (n)
  • 80.48 (a)
PROC 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Proc 35
  • 78.1 (n)
  • 70.11 (a)
Proc 16
Proc 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PROC 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROC 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Proc 35
  • 77.49 (n)
  • 69.74 (a)
chicken
(Gallus gallus)
Aves PROC 35
  • 61.9 (n)
  • 54.33 (a)
PROC 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROC 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24334 35
tropical clawed frog
(Silurana tropicalis)
Amphibia proc 35
  • 58.99 (n)
  • 55.82 (a)
zebrafish
(Danio rerio)
Actinopterygii PROC (2 of 2) 36
  • 47 (a)
OneToMany
proca 35
  • 54.58 (n)
  • 50 (a)
proca 36
  • 46 (a)
OneToMany
zgc63987 35
fruit fly
(Drosophila melanogaster)
Insecta Tequila 37
  • 34 (a)
CG4998 37
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
OneToMany
Species with no ortholog for PROC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PROC Gene

ENSEMBL:
Gene Tree for PROC (if available)
TreeFam:
Gene Tree for PROC (if available)

Paralogs for PROC Gene

Paralogs for PROC Gene

genes like me logo Genes that share paralogs with PROC: view

Variants for PROC Gene

Sequence variations from dbSNP and Humsavar for PROC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs5935 -- 127,428,451(+) ACCGA(C/T)AATGA reference, synonymous-codon
rs5937 -- 127,427,194(+) ATGGA(C/T)GAGTC synonymous-codon, reference
rs973760 -- 127,422,645(+) GGAGC(A/G)GACAG intron-variant
rs1042759 -- 127,429,063(+) TTCTG(C/G)AGGGA utr-variant-3-prime, downstream-variant-500B
rs1158867 -- 127,419,801(+) TCAAT(C/T)CCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PROC Gene

Variant ID Type Subtype PubMed ID
nsv875013 CNV Loss 21882294
nsv875014 CNV Loss 21882294

Relevant External Links for PROC Gene

HapMap Linkage Disequilibrium report
PROC
Human Gene Mutation Database (HGMD)
PROC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROC Gene

Disorders for PROC Gene

(2) OMIM Diseases for PROC Gene (612283)

UniProtKB/Swiss-Prot

PROC_HUMAN
  • Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. {ECO:0000269 PubMed:1301959, ECO:0000269 PubMed:1347706, ECO:0000269 PubMed:1511989, ECO:0000269 PubMed:1868249, ECO:0000269 PubMed:2437584, ECO:0000269 PubMed:25618265, ECO:0000269 PubMed:2602169, ECO:0000269 PubMed:7792728, ECO:0000269 PubMed:7865674, ECO:0000269 PubMed:8292730, ECO:0000269 PubMed:8398832, ECO:0000269 PubMed:8499568, ECO:0000269 PubMed:8560401, ECO:0000269 PubMed:8829639, ECO:0000269 PubMed:9798967}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. {ECO:0000269 PubMed:1511988, ECO:0000269 PubMed:1593215, ECO:0000269 PubMed:1611081, ECO:0000269 PubMed:25618265, ECO:0000269 PubMed:7841323, ECO:0000269 PubMed:7841324, ECO:0000269 PubMed:7878626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PROC Gene

(15) Novoseek inferred disease relationships for PROC Gene

Disease -log(P) Hits PubMed IDs
protein c deficiency 91.1 14
purpura fulminans 79.6 5
thrombophilia 65.5 2
thrombocytopenia neonatal 65.4 3
venous thrombosis 65 9

Genatlas disease for PROC Gene

thrombosis,recurrent (pro-C type I and type II deficiency)

Relevant External Links for PROC

Genetic Association Database (GAD)
PROC
Human Genome Epidemiology (HuGE) Navigator
PROC
genes like me logo Genes that share disorders with PROC: view

Publications for PROC Gene

  1. A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID: 1511988) Grundy C.B. … Cooper D.N. (Hum. Genet. 1992) 3 4 23
  2. Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. (PMID: 1511989) Grundy C.B. … Cooper D.N. (Hum. Genet. 1992) 3 4 23
  3. A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. (PMID: 8499568) Millar D.S. … Cooper D.N. (Blood Coagul. Fibrinolysis 1993) 3 4 23
  4. Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels. (PMID: 9798967) Couture P. … Simard J. (Thromb. Haemost. 1998) 3 4 23
  5. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. (PMID: 7841323) Millar D.S. … Cooper D.N. (Blood Coagul. Fibrinolysis 1994) 3 4 23

Products for PROC Gene

Sources for PROC Gene

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