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PROC protein C, inactivator of coagulation factors Va and VIIIa [ Homo sapiens (human) ]

Gene ID: 5624, updated on 13-Jan-2019

Summary

Official Symbol
PROCprovided by HGNC
Official Full Name
protein C, inactivator of coagulation factors Va and VIIIaprovided by HGNC
Primary source
HGNC:HGNC:9451
See related
Ensembl:ENSG00000115718 MIM:612283
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PC; APC; PROC1; THPH3; THPH4
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 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]
Expression
Biased expression in liver (RPKM 55.9) and kidney (RPKM 6.8) See more
Orthologs

Genomic context

See PROC in Genome Data Viewer
Location:
2q14.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (127418143..127429246)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128175996..128186822)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 2 Neighboring gene RNA, U6 small nuclear 1147, pseudogene Neighboring gene MAP3K2 divergent transcript Neighboring gene uncharacterized LOC105373608 Neighboring gene microRNA 4783 Neighboring gene RNA, U4 small nuclear 48, pseudogene Neighboring gene IWS1, SUPT6H interacting protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of self-rated health.
NHGRI GWA Catalog
Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
vitamin K-dependent protein C
Names
Protein C-Nagoya
activated protein C
anticoagulant protein C
autoprothrombin IIA
blood coagulation factor XIV
prepro-protein C
type I protein C
NP_000303.1
XP_005263774.1
XP_016859994.1
XP_024308770.1
XP_024308771.1
XP_024308772.1
XP_024308773.1
XP_024308774.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016323.1 RefSeqGene

    Range
    5001..15827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_599

mRNA and Protein(s)

  1. NM_000312.3NP_000303.1  vitamin K-dependent protein C preproprotein

    See identical proteins and their annotated locations for NP_000303.1

    Status: REVIEWED

    Source sequence(s)
    BC034377, BM975043, DA642156
    Consensus CDS
    CCDS2145.1
    UniProtKB/Swiss-Prot
    P04070
    Related
    ENSP00000234071.3, ENST00000234071.7
    Conserved Domains (4) summary
    smart00069
    Location:2487
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:101132
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:213448
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:140175
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    127418143..127429246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453002.1XP_024308770.1  vitamin K-dependent protein C isoform X1

    Conserved Domains (4) summary
    smart00069
    Location:117168
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:182213
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:328563
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:255290
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. XM_017004505.1XP_016859994.1  vitamin K-dependent protein C isoform X3

  3. XM_024453003.1XP_024308771.1  vitamin K-dependent protein C isoform X2

    Conserved Domains (4) summary
    smart00069
    Location:85148
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:162193
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:308543
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:235270
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. XM_024453004.1XP_024308772.1  vitamin K-dependent protein C isoform X4

    Conserved Domains (4) summary
    smart00069
    Location:85148
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:162193
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:274509
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:201236
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  5. XM_024453005.1XP_024308773.1  vitamin K-dependent protein C isoform X5

    Conserved Domains (4) summary
    smart00069
    Location:45108
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:122153
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:268503
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:195230
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  6. XM_005263717.4XP_005263774.1  vitamin K-dependent protein C isoform X7

    Conserved Domains (5) summary
    smart00020
    Location:232466
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:45108
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:122153
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:234469
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:161196
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  7. XM_024453006.1XP_024308774.1  vitamin K-dependent protein C isoform X6

    Related
    ENSP00000386679.1, ENST00000409048.1
    Conserved Domains (4) summary
    smart00069
    Location:2487
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:101132
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:247482
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam14670
    Location:174209
    FXa_inhibition; Coagulation Factor Xa inhibitory site
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