F8 coagulation factor VIII [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: F8provided by MGI
Official Full Name: coagulation factor VIIIprovided by MGI
Primary source: MGI:MGI:88383
See related: Ensembl:ENSMUSG00000031196 AllianceGenome:MGI:88383
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cf8; Cf-8; FVIII
Summary: Predicted to enable copper ion binding activity and oxidoreductase activity. Predicted to be involved in blood coagulation, intrinsic pathway. Predicted to act upstream of or within acute-phase response and hemostasis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and liver and biliary system. Used to study factor VIII deficiency. Human ortholog(s) of this gene implicated in factor VIII deficiency. Orthologous to human F8 (coagulation factor VIII). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 38.17 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (74213950..74426342, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (75170344..75382738, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

von Willebrand factor modulates immune complexes and the recall response against factor VIII in a murine hemophilia A model.
Title: von Willebrand factor modulates immune complexes and the recall response against factor VIII in a murine hemophilia A model.
Maladaptive lymphangiogenesis is associated with synovial iron accumulation and delayed clearance in factor VIII-deficient mice after induced hemarthrosis.
Title: Maladaptive lymphangiogenesis is associated with synovial iron accumulation and delayed clearance in factor VIII-deficient mice after induced hemarthrosis.
Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice-Brief Report.
Title: Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice-Brief Report.
A high efficient FVIII variant corrects bleeding in hemophilia A mouse model.
Title: A high efficient FVIII variant corrects bleeding in hemophilia A mouse model.
Removal of single-site N-linked glycans on factor VIII alters binding of domain-specific monoclonal antibodies.
Title: Removal of single-site N-linked glycans on factor VIII alters binding of domain-specific monoclonal antibodies.
Unexpected enhancement of FVIII immunogenicity by endothelial expression in lentivirus-transduced and transgenic mice.
Title: Unexpected enhancement of FVIII immunogenicity by endothelial expression in lentivirus-transduced and transgenic mice.
A Foundational Study for Normal F8-Containing Mouse Models for the miRNA Regulation of Hemophilia A: Identification and Analysis of Mouse miRNAs that Downregulate the Murine F8 Gene.
Title: A Foundational Study for Normal F8-Containing Mouse Models for the miRNA Regulation of Hemophilia A: Identification and Analysis of Mouse miRNAs that Downregulate the Murine F8 Gene.
Hemophilia A and B mice, but not VWF(-/-)mice, display bone defects in congenital development and remodeling after injury.
Title: Hemophilia A and B mice, but not VWF(-/-)mice, display bone defects in congenital development and remodeling after injury.
TAFI deficiency causes maladaptive vascular remodeling after hemophilic joint bleeding.
Title: TAFI deficiency causes maladaptive vascular remodeling after hemophilic joint bleeding.
The increased immunogenicity of oxidized FVIII was not reverted by treatment of mice with N-acetyl cysteine, and did not implicate an increased maturation of professional antigen-presenting cells. Data document that oxidation influences the immunogenicity of therapeutic FVIII.
Title: Oxidation of factor VIII increases its immunogenicity in mice with severe hemophilia A.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (5)

General gene information

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Markers

GDB:177706 (e-PCR)
- UniSTS:154951

F8 (e-PCR), detects polymorphism
- UniSTS:525910

px-39a12 (e-PCR)
- UniSTS:257707

F8 (e-PCR), detects polymorphism
- UniSTS:143057

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within acute-phase response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation, intrinsic pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation, intrinsic pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: coagulation factor VIII

Names: Factor VIII; procoagulant component

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.

mRNA and Protein(s)

NM_001161373.1 → NP_001154845.1 coagulation factor VIII isoform 2 precursor

See identical proteins and their annotated locations for NP_001154845.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK051579, AW489638, BC138347

Consensus CDS

CCDS53114.1

UniProtKB/TrEMBL

B2RRC9

Related

ENSMUSP00000109719.3, ENSMUST00000114085.9

Conserved Domains (4) summary

smart00231
Location:1938 → 2086

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:2094 → 2242

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:399 → 575

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:22 → 202

Cupredoxin; Cupredoxin superfamily
NM_001161374.1 → NP_001154846.1 coagulation factor VIII isoform 3 precursor

See identical proteins and their annotated locations for NP_001154846.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK051579, AW489638, BC145245

UniProtKB/TrEMBL

B7ZNH8

Conserved Domains (4) summary

smart00231
Location:1938 → 2086

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:2094 → 2240

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:399 → 575

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:22 → 202

Cupredoxin; Cupredoxin superfamily
NM_007977.2 → NP_032003.2 coagulation factor VIII isoform 1 precursor

See identical proteins and their annotated locations for NP_032003.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK051579, AW489638, BC138347, L05573

Consensus CDS

CCDS30238.1

UniProtKB/Swiss-Prot

A2AN88, Q06194

Related

ENSMUSP00000033539.7, ENSMUST00000033539.13

Conserved Domains (4) summary

smart00231
Location:2008 → 2156

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:2164 → 2312

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:399 → 575

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:22 → 202

Cupredoxin; Cupredoxin superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

74213950..74426342 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527790.5 → XP_006527853.1 coagulation factor VIII isoform X2

Conserved Domains (4) summary

CHL00117
Location:1127 → 1502

rpoC2; RNA polymerase beta'' subunit; Reviewed

cd00057
Location:2157 → 2305

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:392 → 568

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:15 → 195

Cupredoxin; Cupredoxin superfamily
XM_006527792.5 → XP_006527855.1 coagulation factor VIII isoform X3

See identical proteins and their annotated locations for XP_006527855.1

Conserved Domains (4) summary

CHL00117
Location:1081 → 1456

rpoC2; RNA polymerase beta'' subunit; Reviewed

cd00057
Location:2111 → 2259

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:346 → 522

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:1631 → 1795

Cupredoxin; Cupredoxin superfamily
XM_006527791.4 → XP_006527854.1 coagulation factor VIII isoform X3

See identical proteins and their annotated locations for XP_006527854.1

Conserved Domains (4) summary

CHL00117
Location:1081 → 1456

rpoC2; RNA polymerase beta'' subunit; Reviewed

cd00057
Location:2111 → 2259

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:346 → 522

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:1631 → 1795

Cupredoxin; Cupredoxin superfamily
XM_006527789.5 → XP_006527852.1 coagulation factor VIII isoform X1

Conserved Domains (4) summary

CHL00117
Location:1134 → 1509

rpoC2; RNA polymerase beta'' subunit; Reviewed

cd00057
Location:2164 → 2310

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

cd04227
Location:399 → 575

CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins

cl19115
Location:22 → 202

Cupredoxin; Cupredoxin superfamily