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TFPI tissue factor pathway inhibitor [ Homo sapiens (human) ]

Gene ID: 7035, updated on 15-May-2016
Official Symbol
TFPIprovided by HGNC
Official Full Name
tissue factor pathway inhibitorprovided by HGNC
Primary source
HGNC:HGNC:11760
See related
Ensembl:ENSG00000003436 HPRD:01064; MIM:152310; Vega:OTTHUMG00000132634
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
EPI; TFI; LACI; TFPI1
Summary
This gene encodes a protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. The encoded protein is glycosylated and predominantly found in the vascular endothelium and plasma in both free forms and complexed with plasma lipoproteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been confirmed. [provided by RefSeq, Jul 2008]
Orthologs
Location:
2q32
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (187464230..187554494, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (188328957..188419219, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373787 Neighboring gene calcitonin receptor like receptor Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 Neighboring gene uncharacterized LOC105373786 Neighboring gene uncharacterized LOC105373788 Neighboring gene suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Extrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
    Extrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemFactor VII, the protease that initiates the normal blood clotting cascade, circulates in the blood in both its proenzyme (factor VII) and its activated (factor VIIa) forms. No clotting occurs, howev...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-4-mediated signaling events, organism-specific biosystem
    Syndecan-4-mediated signaling events
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
blood coagulation, extrinsic pathway TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
tissue factor pathway inhibitor
Names
anti-convertin
extrinsic pathway inhibitor
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)

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_029714.2 RefSeqGene

    Range
    16269..106531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001032281.2NP_001027452.1  tissue factor pathway inhibitor isoform b precursor

    See identical proteins and their annotated locations for NP_001027452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AF021834, AU136083, BC015514
    Consensus CDS
    CCDS33349.1
    UniProtKB/Swiss-Prot
    P10646
    Related
    ENSP00000342306, OTTHUMP00000205430, ENST00000339091, OTTHUMT00000334643
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  2. NM_001318941.1NP_001305870.1  tissue factor pathway inhibitor isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AF021834, BC015514, DB078397
    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  3. NM_006287.4NP_006278.1  tissue factor pathway inhibitor isoform a precursor

    See identical proteins and their annotated locations for NP_006278.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC007319, AU136083, CA418214, J03225
    Consensus CDS
    CCDS2294.1
    UniProtKB/Swiss-Prot
    P10646
    Related
    ENSP00000233156, ENST00000233156
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    187464230..187554494 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511707.1XP_011510009.1  

    See identical proteins and their annotated locations for XP_011510009.1

    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  2. XM_005246818.1XP_005246875.1  

    See identical proteins and their annotated locations for XP_005246875.1

    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  3. XM_011511708.1XP_011510010.1  

    See identical proteins and their annotated locations for XP_011510010.1

    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  4. XM_011511709.1XP_011510011.1  

    See identical proteins and their annotated locations for XP_011510011.1

    UniProtKB/Swiss-Prot
    P10646
    Related
    ENSP00000376172, OTTHUMP00000163472, ENST00000392365, OTTHUMT00000255881
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  5. XM_005246819.1XP_005246876.1  

    See identical proteins and their annotated locations for XP_005246876.1

    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  6. XM_006712720.2XP_006712783.1  

    See identical proteins and their annotated locations for XP_006712783.1

    UniProtKB/Swiss-Prot
    P10646
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
  7. XM_005246820.1XP_005246877.1  

    Related
    ENSP00000386344, OTTHUMP00000205431, ENST00000409676, OTTHUMT00000334644
    Conserved Domains (1) summary
    cd00109
    Location:123175
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    188334627..188424881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)