P00451

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession FA8_HUMAN; P00451;
Entrez ID 2157
GenBank Protein ID NM_000132.3; NM_019863.2;
GenBank Nucleotide ID NP_000123.1; NP_063916.1;
Protein Name Coagulation factor VIII (Antihemophilic factor) (AHF) (Procoagulant component) [Cleaved into: Factor VIIIa heavy chain, 200 kDa isoform; Factor VIIIa heavy chain, 92 kDa isoform; Factor VIII B chain; Factor VIIIa light chain]
Gene Name F8; F8C
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionFactor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
Sequence
(Fasta)
MQIELSTCFF LCLLRFCFSA TRRYYLGAVE LSWDYMQSDL GELPVDARFP PRVPKSFPFN 60
TSVVYKKTLF VEFTDHLFNI AKPRPPWMGL LGPTIQAEVY DTVVITLKNM ASHPVSLHAV 120
GVSYWKASEG AEYDDQTSQR EKEDDKVFPG GSHTYVWQVL KENGPMASDP LCLTYSYLSH 180
VDLVKDLNSG LIGALLVCRE GSLAKEKTQT LHKFILLFAV FDEGKSWHSE TKNSLMQDRD 240
AASARAWPKM HTVNGYVNRS LPGLIGCHRK SVYWHVIGMG TTPEVHSIFL EGHTFLVRNH 300
RQASLEISPI TFLTAQTLLM DLGQFLLFCH ISSHQHDGME AYVKVDSCPE EPQLRMKNNE 360
EAEDYDDDLT DSEMDVVRFD DDNSPSFIQI RSVAKKHPKT WVHYIAAEEE DWDYAPLVLA 420
PDDRSYKSQY LNNGPQRIGR KYKKVRFMAY TDETFKTREA IQHESGILGP LLYGEVGDTL 480
LIIFKNQASR PYNIYPHGIT DVRPLYSRRL PKGVKHLKDF PILPGEIFKY KWTVTVEDGP 540
TKSDPRCLTR YYSSFVNMER DLASGLIGPL LICYKESVDQ RGNQIMSDKR NVILFSVFDE 600
NRSWYLTENI QRFLPNPAGV QLEDPEFQAS NIMHSINGYV FDSLQLSVCL HEVAYWYILS 660
IGAQTDFLSV FFSGYTFKHK MVYEDTLTLF PFSGETVFMS MENPGLWILG CHNSDFRNRG 720
MTALLKVSSC DKNTGDYYED SYEDISAYLL SKNNAIEPRS FSQNSRHPST RQKQFNATTI 780
PENDIEKTDP WFAHRTPMPK IQNVSSSDLL MLLRQSPTPH GLSLSDLQEA KYETFSDDPS 840
PGAIDSNNSL SEMTHFRPQL HHSGDMVFTP ESGLQLRLNE KLGTTAATEL KKLDFKVSST 900
SNNLISTIPS DNLAAGTDNT SSLGPPSMPV HYDSQLDTTL FGKKSSPLTE SGGPLSLSEE 960
NNDSKLLESG LMNSQESSWG KNVSSTESGR LFKGKRAHGP ALLTKDNALF KVSISLLKTN 1020
KTSNNSATNR KTHIDGPSLL IENSPSVWQN ILESDTEFKK VTPLIHDRML MDKNATALRL 1080
NHMSNKTTSS KNMEMVQQKK EGPIPPDAQN PDMSFFKMLF LPESARWIQR THGKNSLNSG 1140
QGPSPKQLVS LGPEKSVEGQ NFLSEKNKVV VGKGEFTKDV GLKEMVFPSS RNLFLTNLDN 1200
LHENNTHNQE KKIQEEIEKK ETLIQENVVL PQIHTVTGTK NFMKNLFLLS TRQNVEGSYD 1260
GAYAPVLQDF RSLNDSTNRT KKHTAHFSKK GEEENLEGLG NQTKQIVEKY ACTTRISPNT 1320
SQQNFVTQRS KRALKQFRLP LEETELEKRI IVDDTSTQWS KNMKHLTPST LTQIDYNEKE 1380
KGAITQSPLS DCLTRSHSIP QANRSPLPIA KVSSFPSIRP IYLTRVLFQD NSSHLPAASY 1440
RKKDSGVQES SHFLQGAKKN NLSLAILTLE MTGDQREVGS LGTSATNSVT YKKVENTVLP 1500
KPDLPKTSGK VELLPKVHIY QKDLFPTETS NGSPGHLDLV EGSLLQGTEG AIKWNEANRP 1560
GKVPFLRVAT ESSAKTPSKL LDPLAWDNHY GTQIPKEEWK SQEKSPEKTA FKKKDTILSL 1620
NACESNHAIA AINEGQNKPE IEVTWAKQGR TERLCSQNPP VLKRHQREIT RTTLQSDQEE 1680
IDYDDTISVE MKKEDFDIYD EDENQSPRSF QKKTRHYFIA AVERLWDYGM SSSPHVLRNR 1740
AQSGSVPQFK KVVFQEFTDG SFTQPLYRGE LNEHLGLLGP YIRAEVEDNI MVTFRNQASR 1800
PYSFYSSLIS YEEDQRQGAE PRKNFVKPNE TKTYFWKVQH HMAPTKDEFD CKAWAYFSDV 1860
DLEKDVHSGL IGPLLVCHTN TLNPAHGRQV TVQEFALFFT IFDETKSWYF TENMERNCRA 1920
PCNIQMEDPT FKENYRFHAI NGYIMDTLPG LVMAQDQRIR WYLLSMGSNE NIHSIHFSGH 1980
VFTVRKKEEY KMALYNLYPG VFETVEMLPS KAGIWRVECL IGEHLHAGMS TLFLVYSNKC 2040
QTPLGMASGH IRDFQITASG QYGQWAPKLA RLHYSGSINA WSTKEPFSWI KVDLLAPMII 2100
HGIKTQGARQ KFSSLYISQF IIMYSLDGKK WQTYRGNSTG TLMVFFGNVD SSGIKHNIFN 2160
PPIIARYIRL HPTHYSIRST LRMELMGCDL NSCSMPLGME SKAISDAQIT ASSYFTNMFA 2220
TWSPSKARLH LQGRSNAWRP QVNNPKEWLQ VDFQKTMKVT GVTTQGVKSL LTSMYVKEFL 2280
ISSSQDGHQW TLFFQNGKVK VFQGNQDSFT PVVNSLDPPL LTRYLRIHPQ SWVHQIALRM 2340
EVLGCEAQDL Y 2352

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1GlycosylationHemophilia ACN5831594597
[Reference]: In patient ARC-22, an isoleucine-to-threonine substitution at position 566 creates a potential new N-glycosylation site at asparagine- 564 in the A2 domain of the factor VIII heavy chain.
2GlycosylationHemophilia ACN17891594597
[Reference]: In patient ARC-21, a methionine-to-threonine substitution at position 1772 in the factor VIII light chain creates a potential new N-glycosylation site at asparagine-1770.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 5)
MESH:D001327 ; Autoimmune Diseases
MESH:C536392 ; Factor 8 deficiency, acquired
MESH:D006467 ; Hemophilia A
MESH:D019851 ; Thrombophilia
MESH:D020246 ; Venous Thrombosis
DisGeNet (Curated)
(count: 16)
(view all)
C0004364; Autoimmune Diseases
C0013491; Ecchymosis
C0018924; Hemarthrosis
C0019069; Hemophilia A
C0029408; Degenerative polyarthritis
C0042487; Venous Thrombosis
HGMD
(count: 1900)
(view all)
CP081133; Haemophilia A; Complex rearrangements
CP984536; Haemophilia A; Complex rearrangements
CP025142; Haemophilia A; Complex rearrangements
CP942283; Haemophilia A; Complex rearrangements
CP995085; Haemophilia A; Complex rearrangements
CP077155; Haemophilia A; Complex rearrangements
GWASdb
(count: 3)
rs5987077; Alzheimer's disease; Alzheimer's disease
rs17051889; Cognitive impairment induced by topiramate; cognitive disorder
rs17281398; Antineutrophil cytoplasmic antibody-associated vasculitis; vasculitis

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 21)
(view all)
1022      SLLKTNKTSNNSATN     dbPAF
1023      LLKTNKTSNNSATNR     dbPAF
1026      TNKTSNNSATNRKTH     dbPAF
1028      KTSNNSATNRKTHID     dbPAF
1084      ALRLNHMSNKTTSSK     dbPAF
1284      TNRTKKHTAHFSKKG     dbPAF
Acetylation
(count: 2)
1281      NDSTNRTKKHTAHFS     PLMD
1614      EKTAFKKKDTILSLN     PLMD
Ubiquitination
(count: 6)
1442      LPAASYRKKDSGVQE     PLMD
1443      PAASYRKKDSGVQES     PLMD
1458      SHFLQGAKKNNLSLA     PLMD
1562      NEANRPGKVPFLRVA     PLMD
1693      TISVEMKKEDFDIYD     PLMD
1712      QSPRSFQKKTRHYFI     PLMD
Glycation
(count: 1)
1335      QRSKRALKQFRLPLE     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource