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F10 coagulation factor X [ Homo sapiens (human) ]

Gene ID: 2159, updated on 5-Mar-2024

Summary

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Official Symbol
F10provided by HGNC
Official Full Name
coagulation factor Xprovided by HGNC
Primary source
HGNC:HGNC:3528
See related
Ensembl:ENSG00000126218 MIM:613872; AllianceGenome:HGNC:3528
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
FX; FXA
Summary
This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Expression
Broad expression in liver (RPKM 44.8), ovary (RPKM 13.4) and 16 other tissues See more
Orthologs
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Genomic context

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See F10 in Genome Data Viewer
Location:
13q34
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113122799..113149529)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112374457..112401188)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113777113..113803843)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene uncharacterized LOC107984591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113668429-113668957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676327-113676961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676962-113677597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113681619-113682120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113682121-113682620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113684208-113684732 Neighboring gene Sharpr-MPRA regulatory region 5526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113695415-113696161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113704798-113705384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113744195-113744700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113746783-113747284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113747285-113747784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113750605-113751105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113783538-113784264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113784265-113784991 Neighboring gene uncharacterized LOC124903215 Neighboring gene coagulation factor VII Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113797480-113798325 Neighboring gene F10 antisense RNA 1 Neighboring gene lysyl-tRNA synthetase 1 pseudogene 2 Neighboring gene WAS/WASL-interacting protein family member 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5538 Neighboring gene uncharacterized LOC124903216

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.
    Title: Five new F10 variants in hereditary factor x deficiency detected by high-throughput sequencing.
  2. Factor Xa cleaves SARS-CoV-2 spike protein to block viral entry and infection.
    Title: Factor Xa cleaves SARS-CoV-2 spike protein to block viral entry and infection.
  3. Influence of Heparan Sulfate Proteoglycans and Factor X on species D Human Adenovirus Uptake and Transduction.
    Title: Influence of Heparan Sulfate Proteoglycans and Factor X on species D Human Adenovirus Uptake and Transduction.
  4. Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial Metabolism in Human Pulmonary Microvascular Endothelial Cells: Involvement of Factor Xa.
    Title: Spike Protein Subunits of SARS-CoV-2 Alter Mitochondrial Metabolism in Human Pulmonary Microvascular Endothelial Cells: Involvement of Factor Xa.
  5. The functional role of the autolysis loop in the regulation of factor X upon hemostatic response.
    Title: The functional role of the autolysis loop in the regulation of factor X upon hemostatic response.
  6. Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19.
    Title: Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19.
  7. Factor Xa and thrombin induce endothelial progenitor cell activation. The effect of direct oral anticoagulants.
    Title: Factor Xa and thrombin induce endothelial progenitor cell activation. The effect of direct oral anticoagulants.
  8. Associations of coagulation factor X and XI with incident acute coronary syndrome and stroke: A nested case-control study.
    Title: Associations of coagulation factor X and XI with incident acute coronary syndrome and stroke: A nested case-control study.
  9. Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease.
    Title: Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease.
  10. A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.
    Title: A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.
Submit: New GeneRIF Correction See all GeneRIFs (247)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary factor X deficiency disease
MedGen: C0272327 OMIM: 227600 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
EBI GWAS Catalog
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of TOR signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell migration TAS
Traceable Author Statement
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in external side of plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
coagulation factor X
Names
Stuart-Prower factor
factor X
factor Xa
prothrombinase
NP_000495.1
NP_001299603.1
NP_001299604.1

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_009258.1 RefSeqGene

    Range
    5001..31731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_548

mRNA and Protein(s)

  1. NM_000504.4 → NP_000495.1  coagulation factor X isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000495.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AL137002, BC046125, CB158437
    Consensus CDS
    CCDS9530.1
    UniProtKB/Swiss-Prot
    P00742, Q14340
    UniProtKB/TrEMBL
    Q5JVE7
    Related
    ENSP00000364709.3, ENST00000375559.8
    Conserved Domains (4) summary
    smart00069
    Location:25 → 85
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:86 → 122
    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:235 → 464
    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:129 → 164
    FXa_inhibition; Coagulation Factor Xa inhibitory site

  2. NM_001312674.2 → NP_001299603.1  coagulation factor X isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AL137002, BC046125, CB158437, CD013940
    UniProtKB/Swiss-Prot
    P00742
    Conserved Domains (4) summary
    smart00020
    Location:190 → 418
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:25 → 85
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:86 → 122
    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:191 → 420
    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 ...

  3. NM_001312675.2 → NP_001299604.1  coagulation factor X isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the penultimate exon, compared to variant 1, resulting in differences in the 3' coding region and 3' UTR. It encodes isoform 3 which has a distinct C-terminus, compared to isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    BC046125, CB158437, M22613
    Consensus CDS
    CCDS81783.1
    UniProtKB/TrEMBL
    B7ZBK1, Q5JVE8
    Related
    ENSP00000364701.3, ENST00000375551.7
    Conserved Domains (4) summary
    smart00069
    Location:25 → 85
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:86 → 122
    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 ...
    pfam14670
    Location:129 → 164
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl27237
    Location:234 → 279
    Trypsin; Trypsin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    113122799..113149529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    112374457..112401188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00742.2 GenPept UniProtKB/Swiss-Prot:P00742

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