F10 coagulation factor X [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Conformation of factor Xa in solution revealed by single-molecule spectroscopy.
Title: Conformation of factor Xa in solution revealed by single-molecule spectroscopy.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Ischemic stroke is associated with the ABO locus: the EuroCLOT study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN18496 (e-PCR)
- UniSTS:343296

REN18497 (e-PCR)
- UniSTS:343297

REN18498 (e-PCR)
- UniSTS:343298

ECD05400 (e-PCR)
- UniSTS:286466

REN18499 (e-PCR)
- UniSTS:343299

REN18500 (e-PCR)
- UniSTS:343300

REN18501 (e-PCR)
- UniSTS:343301

REN18502 (e-PCR)
- UniSTS:343302

REN18503 (e-PCR)
- UniSTS:343303

REN18504 (e-PCR)
- UniSTS:343304

REN18505 (e-PCR)
- UniSTS:343305

REN18506 (e-PCR)
- UniSTS:343306

REN18507 (e-PCR)
- UniSTS:343307

REN18508 (e-PCR)
- UniSTS:343308

REN18509 (e-PCR)
- UniSTS:343309

REN18510 (e-PCR)
- UniSTS:343310

REN18511 (e-PCR)
- UniSTS:343311

REN18512 (e-PCR)
- UniSTS:343312

REN18513 (e-PCR)
- UniSTS:343313

REN18514 (e-PCR)
- UniSTS:343314

REN18515 (e-PCR)
- UniSTS:343315

REN18516 (e-PCR)
- UniSTS:343316

REN18517 (e-PCR)
- UniSTS:343317

REN18518 (e-PCR)
- UniSTS:343318

REN18519 (e-PCR)
- UniSTS:343319

REN18520 (e-PCR)
- UniSTS:343320

REN18521 (e-PCR)
- UniSTS:343321

REN18522 (e-PCR)
- UniSTS:343322

REN18523 (e-PCR)
- UniSTS:343323

REN18524 (e-PCR)
- UniSTS:343324

REN18525 (e-PCR)
- UniSTS:343325

REN18526 (e-PCR)
- UniSTS:343326

ECD07492 (e-PCR)
- UniSTS:288545

F10 (e-PCR), detects polymorphism
- UniSTS:505389

ECD05980 (e-PCR)
- UniSTS:287042

F10-888 (e-PCR)
- UniSTS:9290

ECD13200 (e-PCR)
- UniSTS:294230

ECD05745 (e-PCR)
- UniSTS:286807

ECD11659 (e-PCR)
- UniSTS:292695

ECD04197 (e-PCR)
- UniSTS:285275

ECD00089 (e-PCR)
- UniSTS:281203

ECD08352 (e-PCR)
- UniSTS:289400

RH71376 (e-PCR)
- UniSTS:57721

ECD06824 (e-PCR)
- UniSTS:287883

F10 (e-PCR), detects polymorphism
- UniSTS:480180

REN18458 (e-PCR)
- UniSTS:343258

REN18459 (e-PCR)
- UniSTS:343259

REN18460 (e-PCR)
- UniSTS:343260

REN18461 (e-PCR)
- UniSTS:343261

REN18462 (e-PCR)
- UniSTS:343262

REN18463 (e-PCR)
- UniSTS:343263

REN18464 (e-PCR)
- UniSTS:343264

ECD08712 (e-PCR)
- UniSTS:289760

REN18465 (e-PCR)
- UniSTS:343265

REN18466 (e-PCR)
- UniSTS:343266

REN18467 (e-PCR)
- UniSTS:343267

REN18468 (e-PCR)
- UniSTS:343268

REN18469 (e-PCR)
- UniSTS:343269

REN18470 (e-PCR)
- UniSTS:343270

REN18471 (e-PCR)
- UniSTS:343271

REN18472 (e-PCR)
- UniSTS:343272

REN18473 (e-PCR)
- UniSTS:343273

REN18474 (e-PCR)
- UniSTS:343274

REN18475 (e-PCR)
- UniSTS:343275

REN18476 (e-PCR)
- UniSTS:343276

REN18477 (e-PCR)
- UniSTS:343277

REN18478 (e-PCR)
- UniSTS:343278

REN18479 (e-PCR)
- UniSTS:343279

REN18480 (e-PCR)
- UniSTS:343280

REN18481 (e-PCR)
- UniSTS:343281

REN18482 (e-PCR)
- UniSTS:343282

REN18483 (e-PCR)
- UniSTS:343283

REN18484 (e-PCR)
- UniSTS:343284

REN18485 (e-PCR)
- UniSTS:343285

REN18486 (e-PCR)
- UniSTS:343286

ECD00737 (e-PCR)
- UniSTS:281846

REN18487 (e-PCR)
- UniSTS:343287

REN18488 (e-PCR)
- UniSTS:343288

REN18489 (e-PCR)
- UniSTS:343289

REN18490 (e-PCR)
- UniSTS:343290

REN18491 (e-PCR)
- UniSTS:343291

REN18492 (e-PCR)
- UniSTS:343292

REN18493 (e-PCR)
- UniSTS:343293

REN18494 (e-PCR)
- UniSTS:343294

REN18495 (e-PCR)
- UniSTS:343295

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

EC 3.4.21.6

NP_001299603.1

EC 3.4.21.6

NP_001299604.1

EC 3.4.21.6

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

NG_009258.1 RefSeqGene

Range

5001..31731

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_548

mRNA and Protein(s)

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
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 ...
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