U.S. flag

An official website of the United States government

Links from Nucleotide

    • Showing Current items.

    F10 coagulation factor X [ Homo sapiens (human) ]

    Gene ID: 2159, updated on 2-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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 ATAC-STARR-seq lymphoblastoid silent region 5538 Neighboring gene uncharacterized LOC124903216 Neighboring gene F10 antisense RNA 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables phospholipid binding PubMed 
    enables protein binding PubMed 
    enables serine-type endopeptidase activity  
    enables serine-type endopeptidase activity PubMed 
    enables serine-type endopeptidase activity PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen  
    located_in endoplasmic reticulum lumen  
    located_in external side of plasma membrane PubMed 
    located_in extracellular region PubMed 
    located_in extracellular region  
    is_active_in extracellular space  
    located_in plasma membrane  

    General protein information

    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)

    NEW Try the new Transcript table

    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_000504.4NP_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: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_001312674.2NP_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: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_001312675.2NP_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: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
      cl27237
      Location:234279
      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)
    External link. Please review our privacy policy.