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    F10 coagulation factor X [ Homo sapiens (human) ]

    Gene ID: 2159, updated on 7-Jan-2018
    Official Symbol
    F10provided by HGNC
    Official Full Name
    coagulation factor Xprovided by HGNC
    Primary source
    HGNC:HGNC:3528
    See related
    Ensembl:ENSG00000126218 MIM:613872; Vega:OTTHUMG00000017374
    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
    Location:
    13q34
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (113122799..113149529)
    105 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 proline-rich extensin-like protein EPR1 Neighboring gene coagulation factor VII Neighboring gene F10 antisense RNA 1 Neighboring gene WAS/WASL-interacting protein family member 2-like Neighboring gene lysyl-tRNA synthetase pseudogene 2 Neighboring gene protein Z, vitamin K dependent plasma glycoprotein Neighboring gene PCI domain containing 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Factor X deficiency
    MedGen: C0015519 OMIM: 227600 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT 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
     
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    blood coagulation IC
    Inferred by Curator
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, extrinsic pathway TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    peptidyl-glutamic acid carboxylation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein kinase B signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal peptide processing 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
     
    intrinsic component of external side of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    coagulation factor X
    Names
    Stuart-Prower factor
    factor Xa
    prothrombinase
    NP_000495.1
    NP_001299603.1
    NP_001299604.1

    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_009258.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000504.3NP_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
      UniProtKB/TrEMBL
      Q5JVE7
      Related
      ENSP00000364709.3, OTTHUMP00000018735, ENST00000375559.7, OTTHUMT00000045841
      Conserved Domains (4) summary
      smart00069
      Location:2585
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:86122
      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:235464
      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:129164
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001312674.1NP_001299603.1  coagulation factor X isoform 2 precursor

      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:190418
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2585
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:86122
      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:191420
      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_001312675.1NP_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/Swiss-Prot
      P00742
      UniProtKB/TrEMBL
      Q5JVE8
      Related
      ENSP00000364701.3, OTTHUMP00000018736, ENST00000375551.7, OTTHUMT00000045842
      Conserved Domains (4) summary
      smart00069
      Location:2585
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:86122
      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:129164
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl21584
      Location:235279
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      113745235..113771639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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