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F10 coagulation factor X [ Homo sapiens (human) ]

Gene ID: 2159, updated on 5-Aug-2018

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; 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

Genomic context

See F10 in Genome Data Viewer
Location:
13q34
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC102724474 Neighboring gene lysyl-tRNA synthetase pseudogene 2 Neighboring gene protein Z, vitamin K dependent plasma glycoprotein Neighboring gene PCI domain containing 2

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 
proteolysis IEA
Inferred from Electronic Annotation
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
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic component of external side of plasma membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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)

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
    cl27237
    Location:234279
    Trypsin; Trypsin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

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