• Gene id: 14069

Gene Summary

• Gene Symbol: F8   Gene   UCSC   Ensembl
• Aliases: Cf-8, Cf8, FVIII
• Gene name: coagulation factor VIII
• Alternate names: coagulation factor VIII, Factor VIII, procoagulant component,
• Gene location: X 38.17 cM (75382737: 75170343)     Exons: 28     NC_000086.7
• OMIM: 605423

Protein Summary

• Protein general information: Q06194  
  • Name: Coagulation factor VIII (Procoagulant component)
  • Length: 2319  
  • Mass: 266196
  • Tissue specificity: Found in most tissues.
• Sequence:

  MQIALFACFFLSLFNFCSSAIRRYYLGAVELSWNYIQSDLLSVLHTDSRFLPRMSTSFPFNTSIMYKKTVFVEYK
  DQLFNIAKPRPPWMGLLGPTIWTEVHDTVVITLKNMASHPVSLHAVGVSYWKASEGDEYEDQTSQMEKEDDKVFP
  GESHTYVWQVLKENGPMASDPPCLTYSYMSHVDLVKDLNSGLIGALLVCKEGSLSKERTQMLYQFVLLFAVFDEG
  KSWHSETNDSYTQSMDSASARDWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEIHSIFLEGHTFFVRN
  HRQASLEISPITFLTAQTLLIDLGQFLLFCHISSHKHDGMEAYVKVDSCPEESQWQKKNNNEEMEDYDDDLYSEM
  DMFTLDYDSSPFIQIRSVAKKYPKTWIHYISAEEEDWDYAPSVPTSDNGSYKSQYLSNGPHRIGRKYKKVRFIAY
  TDETFKTRETIQHESGLLGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVSPLHARRLPRGIKHVKDLPIHPG
  EIFKYKWTVTVEDGPTKSDPRCLTRYYSSFINPERDLASGLIGPLLICYKESVDQRGNQMMSDKRNVILFSIFDE
  NQSWYITENMQRFLPNAAKTQPQDPGFQASNIMHSINGYVFDSLELTVCLHEVAYWHILSVGAQTDFLSIFFSGY
  TFKHKMVYEDTLTLFPFSGETVFMSMENPGLWVLGCHNSDFRKRGMTALLKVSSCDKSTSDYYEEIYEDIPTQLV
  NENNVIDPRSFFQNTNHPNTRKKKFKDSTIPKNDMEKIEPQFEEIAEMLKVQSVSVSDMLMLLGQSHPTPHGLFL
  SDGQEAIYEAIHDDHSPNAIDSNEGPSKVTQLRPESHHSEKIVFTPQPGLQLRSNKSLETTIEVKWKKLGLQVSS
  LPSNLMTTTILSDNLKATFEKTDSSGFPDMPVHSSSKLSTTAFGKKAYSLVGSHVPLNVSEENSDSNILDSTLMY
  SQESLPRDNILSMENDRLLREKRFHGIALLTKDNTLFKDNVSLMKTNKTYNHSTTNEKLHTESPTSIENSTTDLQ
  DAILKVNSEIQEVTALIHDGTLLGKNSTYLRLNHMLNRTTSTKNKDIFHRKDEDPIPQDEENTIMPFSKMLFLSE
  SSNWFKKTNGNNSLNSEQEHSPKQLVYLMFKKYVKNQSFLSEKNKVTVEQDGFTKNIGLKDMAFPHNMSIFLTTL
  SNVHENGRHNQEKNIQEEIEKEALIEEKVVLPQVHEATGSKNFLKDILILGTRQNISLYEVHVPVLQNITSINNS
  TNTVQIHMEHFFKRRKDKETNSEGLVNKTREMVKNYPSQKNITTQRSKRALGQFRLSTQWLKTINCSTQCIIKQI
  DHSKEMKKFITKSSLSDSSVIKSTTQTNSSDSHIVKTSAFPPIDLKRSPFQNKFSHVQASSYIYDFKTKSSRIQE
  SNNFLKETKINNPSLAILPWNMFIDQGKFTSPGKSNTNSVTYKKRENIIFLKPTLPEESGKIELLPQVSIQEEEI
  LPTETSHGSPGHLNLMKEVFLQKIQGPTKWNKAKRHGESIKGKTESSKNTRSKLLNHHAWDYHYAAQIPKDMWKS
  KEKSPEIISIKQEDTILSLRPHGNSHSIGANEKQNWPQRETTWVKQGQTQRTCSQIPPVLKRHQRELSAFQSEQE
  ATDYDDAITIETIEDFDIYSEDIKQGPRSFQQKTRHYFIAAVERLWDYGMSTSHVLRNRYQSDNVPQFKKVVFQE
  FTDGSFSQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFKNQASRPYSFYSSLISYKEDQRGEEPRRNFVKPNETK
  IYFWKVQHHMAPTEDEFDCKAWAYFSDVDLERDMHSGLIGPLLICHANTLNPAHGRQVSVQEFALLFTIFDETKS
  WYFTENVKRNCKTPCNFQMEDPTLKENYRFHAINGYVMDTLPGLVMAQDQRIRWYLLSMGNNENIQSIHFSGHVF
  TVRKKEEYKMAVYNLYPGVFETLEMIPSRAGIWRVECLIGEHLQAGMSTLFLVYSKQCQIPLGMASGSIRDFQIT
  ASGHYGQWAPNLARLHYSGSINAWSTKEPFSWIKVDLLAPMIVHGIKTQGARQKFSSLYISQFIIMYSLDGKKWL
  SYQGNSTGTLMVFFGNVDSSGIKHNSFNPPIIARYIRLHPTHSSIRSTLRMELMGCDLNSCSIPLGMESKVISDT
  QITASSYFTNMFATWSPSQARLHLQGRTNAWRPQVNDPKQWLQVDLQKTMKVTGIITQGVKSLFTSMFVKEFLIS
  SSQDGHHWTQILYNGKVKVFQGNQDSSTPMMNSLDPPLLTRYLRIHPQIWEHQIALRLEILGCEAQQQY

• Structural information:
  • Protein Domains: (20..34-)
    A (/note="F5/8-type)
    (20..19-)
    (/note="Plastocyanin-like-1)
    (207..34-)
    (/note="Plastocyanin-like-2)
    (399..73-)
    A (/note="F5/8-type)
    (399..57-)
    (/note="Plastocyanin-like-3)
    (583..73-)
    (/note="Plastocya-)
  • Interpro: IPR011706  IPR011707  IPR033138  IPR008972  IPR000421   IPR024715  IPR014707  IPR008979  
  • Prosite: PS01285 PS01286 PS50022 PS00079
  • CDD: cd00057
  • STRING: ENSMUSP00000033539
• Other Databases: GeneCards:  F8  Malacards:  F8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0007597	blood coagulation, intrinsic pathway	IBA	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0030168	platelet activation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0007596	blood coagulation	ISO	biological process
GO:0005615	extracellular space	ISO	cellular component
GO:0007597	blood coagulation, intrinsic pathway	ISO	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007597	blood coagulation, intrinsic pathway	IBA	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0030168	platelet activation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006953	acute-phase response	IEA	biological process
GO:0007596	blood coagulation	ISO	biological process
GO:0005615	extracellular space	ISO	cellular component
GO:0007597	blood coagulation, intrinsic pathway	ISO	biological process
GO:0005615	extracellular space	IEA	cellular component

Diseases

Associated diseases	References
von Willebrand's disease 2	PMID:16409463
factor VIII deficiency	PMID:10468616
factor VIII deficiency	PMID:16786531
factor VIII deficiency	PMID:10612839
type 2 diabetes mellitus	PMID:7974333
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray