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

Gene ID: 5624, updated on 24-Aug-2014
Official Symbol
PROCprovided by HGNC
Official Full Name
protein C (inactivator of coagulation factors Va and VIIIa)provided by HGNC
Primary source
HGNC:9451
See related
Ensembl:ENSG00000115718; HPRD:01466; MIM:612283; Vega:OTTHUMG00000131528
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]
See PROC in Epigenomics, MapViewer
Location:
2q13-q14
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (127418420..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 basic proline-rich protein-like Neighboring gene microRNA 4783 Neighboring gene IWS1 homolog (S. cerevisiae) Neighboring gene myosin VIIB Neighboring gene uncharacterized LOC101927834

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of self-rated health.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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 TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
peptidyl-glutamic acid carboxylation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
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
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
vitamin K-dependent protein C
Names
vitamin K-dependent protein C
prepro-protein C
autoprothrombin IIA
anticoagulant protein C
blood coagulation factor XIV
NP_000303.1

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_000303.1

    Status: REVIEWED

    Source sequence(s)
    BC034377, BM975043, DA642156
    Consensus CDS
    CCDS2145.1
    UniProtKB/Swiss-Prot
    P04070
    Related
    ENSP00000234071, OTTHUMP00000162263, ENST00000234071, OTTHUMT00000254385
    Conserved Domains (5) summary
    smart00020
    Location:211445
    Blast Score: 678
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2487
    Blast Score: 251
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:101132
    Blast Score: 117
    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
    Blast Score: 716
    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
    Blast Score: 141
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    127418420..127429246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263717.2XP_005263774.1  

    Conserved Domains (5) summary
    smart00020
    Location:232466
    Blast Score: 677
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:45108
    Blast Score: 250
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:122153
    Blast Score: 116
    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
    Blast Score: 715
    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
    Blast Score: 140
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. XM_005263716.2XP_005263773.1  

    See proteins identical to XP_005263773.1

    UniProtKB/Swiss-Prot
    P04070
    Related
    ENSP00000386679, OTTHUMP00000203820, ENST00000409048, OTTHUMT00000331017
    Conserved Domains (5) summary
    smart00020
    Location:266500
    Blast Score: 677
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:45108
    Blast Score: 250
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:122153
    Blast Score: 116
    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
    Blast Score: 715
    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
    Blast Score: 140
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. XM_005263715.2XP_005263772.1  

    Conserved Domains (5) summary
    smart00020
    Location:272506
    Blast Score: 676
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:85148
    Blast Score: 252
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:162193
    Blast Score: 117
    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
    Blast Score: 715
    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
    Blast Score: 140
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. XM_006712633.1XP_006712696.1  

    Conserved Domains (5) summary
    smart00020
    Location:219453
    Blast Score: 679
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:3295
    Blast Score: 251
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:109140
    Blast Score: 118
    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:221456
    Blast Score: 716
    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:148183
    Blast Score: 141
    FXa_inhibition; Coagulation Factor Xa inhibitory site

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    120483060..120493885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    128180576..128191401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)