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    F10 coagulation factor X [ Homo sapiens (human) ]

    Gene ID: 2159, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113122799..113149529)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112374457..112401188)
    RS_2024_09 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 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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    Related articles in PubMed

    1. How useful is determination of anti-factor Xa activity to guide bridging therapy with enoxaparin? A pilot study. Hammerstingl C, et al. Thromb Haemost, 2009 Feb. PMID 19190817
    2. Assessment of laboratory assays to measure rivaroxaban--an oral, direct factor Xa inhibitor. Samama MM, et al. Thromb Haemost, 2010 Apr. PMID 20135059
    3. Reversibility of the anti-FXa activity of idrabiotaparinux (biotinylated idraparinux) by intravenous avidin infusion. Paty I, et al. J Thromb Haemost, 2010 Apr. PMID 20088937
    4. Prevention of venous thromboembolism with an oral factor Xa inhibitor, YM150, after total hip arthroplasty. A dose finding study (ONYX-2). Eriksson BI, et al. J Thromb Haemost, 2010 Apr. PMID 20088935
    5. Safety, pharmacokinetics and pharmacodynamics of single doses of rivaroxaban - an oral, direct factor Xa inhibitor - in elderly Chinese subjects. Jiang J, et al. Thromb Haemost, 2010 Jan. PMID 20062915

    See all (320) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conformation of factor Xa in solution revealed by single-molecule spectroscopy.
      Title: Conformation of factor Xa in solution revealed by single-molecule spectroscopy.
    2. Activated factor X stimulates atrial endothelial cells and tissues to promote remodelling responses through AT1R/NADPH oxidases/SGLT1/2.
      Title: Activated factor X stimulates atrial endothelial cells and tissues to promote remodelling responses through AT1R/NADPH oxidases/SGLT1/2.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (249)

    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
    		Compare labs

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

      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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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