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

Gene ID: 7035, updated on 4-Jan-2025

Summary

Official Symbol
TFPIprovided by HGNC
Official Full Name
tissue factor pathway inhibitorprovided by HGNC
Primary source
HGNC:HGNC:11760
See related
Ensembl:ENSG00000003436 MIM:152310; AllianceGenome:HGNC:11760
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 Kunitz-type serine 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. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
Expression
Broad expression in liver (RPKM 42.6), placenta (RPKM 39.9) and 20 other tissues See more
Orthologs
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Genomic context

See TFPI in Genome Data Viewer
Location:
2q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (187464230..187554435, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (187953180..188043364, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (188328957..188419162, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CALCRL and TFPI antisense RNA 1 Neighboring gene RNA, U6 small nuclear 989, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15572 Neighboring gene MPRA-validated peak3978 silencer Neighboring gene MPRA-validated peak3980 silencer Neighboring gene MPRA-validated peak3982 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188273472-188274250 Neighboring gene calcitonin receptor like receptor Neighboring gene Sharpr-MPRA regulatory region 13492 Neighboring gene MPRA-validated peak3983 silencer Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 Neighboring gene MPRA-validated peak3984 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:188384681-188385366 Neighboring gene Sharpr-MPRA regulatory region 10664 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:188411556-188412755 Neighboring gene NANOG hESC enhancer GRCh37_chr2:188422204-188422788 Neighboring gene NANOG hESC enhancer GRCh37_chr2:188422789-188423371 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188430328-188430906 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188430907-188431484 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188480540-188481090 Neighboring gene NANOG hESC enhancer GRCh37_chr2:188483510-188484011 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188535284-188535785 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188540495-188541307 Neighboring gene MPRA-validated peak3986 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:188565262-188565763 Neighboring gene uncharacterized LOC105373788 Neighboring gene ST13, Hsp70 interacting protein pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
EBI GWAS Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TFPI PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in caveola PubMed 
located_in cell surface PubMed 
located_in cell surface PubMed 
located_in endoplasmic reticulum  
located_in extracellular region  
is_active_in extracellular space  
located_in extracellular space PubMed 
located_in plasma membrane  
located_in side of membrane  

General protein information

Preferred Names
tissue factor pathway inhibitor
Names
anti-convertin
extrinsic pathway inhibitor
tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)

NCBI Reference Sequences (RefSeq)

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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
    16326..106531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_604

mRNA and Protein(s)

  1. NM_001032281.4NP_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 encoded isoform (b, also known as TFPIbeta) has a shorter and distinct C-terminus, which includes a glycosylphosphatidylinositol (GPI) anchor attachment site, compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AF021834, BC015514, HY175080
    Consensus CDS
    CCDS33349.1
    UniProtKB/Swiss-Prot
    P10646
    Related
    ENSP00000342306.4, ENST00000339091.8
    Conserved Domains (2) 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.
    pfam00014
    Location:53104
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  2. NM_001318941.3NP_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 encoded isoform (b, also known as TFPIbeta) has a shorter and distinct C-terminus, which includes a glycosylphosphatidylinositol (GPI) anchor attachment site, compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AF021834, BC015514, HY175080
    Consensus CDS
    CCDS33349.1
    UniProtKB/Swiss-Prot
    P10646
    Related
    ENSP00000386344.1, ENST00000409676.5
    Conserved Domains (2) 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.
    pfam00014
    Location:53104
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  3. NM_001329239.2NP_001316168.1  tissue factor pathway inhibitor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1 but encodes the same isoform (a, also known as TFPIalpha), which is secreted. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AC007319, AC098485, CA418214
    Consensus CDS
    CCDS2294.1
    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
    Conserved Domains (2) 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.
    pfam00014
    Location:216268
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  4. NM_001329240.2NP_001316169.1  tissue factor pathway inhibitor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1 but encodes the same isoform (a, also known as TFPIalpha), which is secreted. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AC007319, AC098485, CA418214
    Consensus CDS
    CCDS2294.1
    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
    Related
    ENSP00000376172.1, ENST00000392365.5
    Conserved Domains (2) 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.
    pfam00014
    Location:216268
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  5. NM_001329241.2NP_001316170.1  tissue factor pathway inhibitor isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1 but encodes the same isoform (a, also known as TFPIalpha), which is secreted. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AC007319, AC098485, CA418214
    Consensus CDS
    CCDS2294.1
    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
    Conserved Domains (2) 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.
    pfam00014
    Location:216268
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
  6. NM_006287.6NP_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) encodes the longer isoform (a, also known as TFPIalpha), which is secreted. Variants 1 and 4-6 encode the same isoform (a).
    Source sequence(s)
    AC007319, CA418214, HY175080, J03225
    Consensus CDS
    CCDS2294.1
    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
    Related
    ENSP00000233156.3, ENST00000233156.9
    Conserved Domains (2) 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.
    pfam00014
    Location:216268
    Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    187464230..187554435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445619.1XP_047301575.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  2. XM_047445620.1XP_047301576.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  3. XM_047445621.1XP_047301577.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  4. XM_047445618.1XP_047301574.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  5. XM_047445617.1XP_047301573.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  6. XM_047445622.1XP_047301578.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  7. XM_047445623.1XP_047301579.1  tissue factor pathway inhibitor isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    187953180..188043364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343583.1XP_054199558.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  2. XM_054343584.1XP_054199559.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  3. XM_054343585.1XP_054199560.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  4. XM_054343582.1XP_054199557.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  5. XM_054343581.1XP_054199556.1  tissue factor pathway inhibitor isoform X1

    UniProtKB/Swiss-Prot
    O95103, P10646, Q53TS4
    UniProtKB/TrEMBL
    B2R8Y9
  6. XM_054343586.1XP_054199561.1  tissue factor pathway inhibitor isoform X2

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