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

    Gene ID: 14069, updated on 27-Nov-2024

    Summary

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    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 be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; 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, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    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_000086.8Genomic Context describing neighboring genes Neighboring gene predicted pseudogene 6036 Neighboring gene small integral membrane protein 9 Neighboring gene protein phosphatase 1 regulatory subunit 14B pseudogene Neighboring gene STARR-seq mESC enhancer starr_47379 Neighboring gene STARR-seq mESC enhancer starr_47380 Neighboring gene protein phosphatase 4, regulatory subunit 2 pseudogene Neighboring gene predicted gene 8522 Neighboring gene STARR-seq mESC enhancer starr_47381 Neighboring gene STARR-seq mESC enhancer starr_47382 Neighboring gene FUN14 domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E11683 Neighboring gene C-X9-C motif containing 4 Neighboring gene mature T cell proliferation 1 Neighboring gene BRCA1/BRCA2-containing complex, subunit 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Tolerogenic nanoparticles to induce immunologic tolerance: Prevention and reversal of FVIII inhibitor formation. Zhang AH, et al. Cell Immunol, 2016 Mar. PMID 26687613
    2. An RNAi therapeutic targeting antithrombin to rebalance the coagulation system and promote hemostasis in hemophilia. Sehgal A, et al. Nat Med, 2015 May. PMID 25849132
    3. Extrahepatic sources of factor VIII potentially contribute to the coagulation cascade correcting the bleeding phenotype of mice with hemophilia A. Zanolini D, et al. Haematologica, 2015 Jul. PMID 25911555, Free PMC Article
    4. Factor VIII-pulsed dendritic cells reduce anti-factor VIII antibody formation in the hemophilia A mouse model. Ragni MV, et al. Exp Hematol, 2009 Jun. PMID 19463774, Free PMC Article
    5. A murine model for induction of long-term immunologic tolerance to factor VIII does not require persistent detectable levels of plasma factor VIII and involves contributions from Foxp3+ T regulatory cells. Matsui H, et al. Blood, 2009 Jul 16. PMID 19458355, Free PMC Article

    See all (189) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. TAFI deficiency causes maladaptive vascular remodeling after hemophilic joint bleeding.
      Title: TAFI deficiency causes maladaptive vascular remodeling after hemophilic joint bleeding.
    10. 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)
    • Endonuclease-mediated (6) 
    • Targeted (6)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables copper ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in 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
    		  
    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)

    1. 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

    2. 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

    3. 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

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      74213950..74426342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06194.2 GenPept UniProtKB/Swiss-Prot:Q06194

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