F8
entrez
2157
canonical
uniprot
P00451
canonical
ensembl
ENSG00000185010
resolver
ensp
ENSP00000327895
resolver
ensp
ENSP00000353393
resolver
genesymbol
F8
resolver
genesymbol_syn
F8C
resolver
hgnc
HGNC:3546
resolver
uniprot
Q14286
resolver
uniprot
Q5HY69
resolver
uniprot_entry
FA8_HUMAN
resolver
uniprot_sec
Q14286
resolver
uniprot_sec
Q5HY69
resolver
amino_acid_sequence
MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY
uniprot
proteins
disease_involvement
DISEASE: Hemophilia A (HEMA) [MIM:306700]: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. {ECO:0000269|PubMed:10215414, ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:10554831, ECO:0000269|PubMed:10612839, ECO:0000269|PubMed:10691849, ECO:0000269|PubMed:10800171, ECO:0000269|PubMed:10886198, ECO:0000269|PubMed:10896236, ECO:0000269|PubMed:10910910, ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11442647, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:11857744, ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12199686, ECO:0000269|PubMed:12203998, ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:12351418, ECO:0000269|PubMed:12406074, ECO:0000269|PubMed:12614369, ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:12930394, ECO:0000269|PubMed:1301194, ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:1301960, ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:1356412, ECO:0000269|PubMed:15682412, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:1639429, ECO:0000269|PubMed:16805874, ECO:0000269|PubMed:18184865, ECO:0000269|PubMed:1851341, ECO:0000269|PubMed:1908096, ECO:0000269|PubMed:1908817, ECO:0000269|PubMed:1924291, ECO:0000269|PubMed:1973901, ECO:0000269|PubMed:2104766, ECO:0000269|PubMed:2105106, ECO:0000269|PubMed:2105906, ECO:0000269|PubMed:2106480, ECO:0000269|PubMed:2107542, ECO:0000269|PubMed:21371196, ECO:0000269|PubMed:2495245, ECO:0000269|PubMed:2498882, ECO:0000269|PubMed:2499363, ECO:0000269|PubMed:2506948, ECO:0000269|PubMed:2510835, ECO:0000269|PubMed:25550078, ECO:0000269|PubMed:26278069, ECO:0000269|PubMed:2833855, ECO:0000269|PubMed:2835904, ECO:0000269|PubMed:29357978, ECO:0000269|PubMed:3012775, ECO:0000269|PubMed:3122181, ECO:0000269|PubMed:7579394, ECO:0000269|PubMed:7759074, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8322269, ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:8639447, ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:8759905, ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9326186, ECO:0000269|PubMed:9341862, ECO:0000269|PubMed:9450898, ECO:0000269|PubMed:9452104, ECO:0000269|PubMed:9569180, ECO:0000269|PubMed:9569189, ECO:0000269|PubMed:9603440, ECO:0000269|PubMed:9792405, ECO:0000269|PubMed:9829908, ECO:0000269|PubMed:9886318}. Note=The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.; DISEASE: Thrombophilia 13, X-linked, due to factor VIII defect (THPH13) [MIM:301071]: An X-linked dominant, hemostatic disorder associated with markedly elevated F8 levels, and characterized by severe thrombophilia. {ECO:0000269|PubMed:33275657}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Factor 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.
uniprot
proteins
mass_dalton
267009
uniprot
proteins
post_translational_modification
PTM: Sulfation on Tyr-1699 is essential for binding vWF. {ECO:0000269|PubMed:10368977, ECO:0000269|PubMed:1554716, ECO:0000269|PubMed:1898735}.; PTM: Proteolytically cleaved by cathepsin CTSG to produce a partially activated form. {ECO:0000269|PubMed:18217133}.
uniprot
proteins
protein_family
Multicopper oxidase family
uniprot
proteins
pubmed
10215414
uniprot
proteins
pubmed
10338101
uniprot
proteins
pubmed
10368977
uniprot
proteins
pubmed
10404764
uniprot
proteins
pubmed
10408784
uniprot
proteins
pubmed
10554831
uniprot
proteins
pubmed
10612839
uniprot
proteins
pubmed
10691849
uniprot
proteins
pubmed
10800171
uniprot
proteins
pubmed
10886198
uniprot
proteins
pubmed
10896236
uniprot
proteins
pubmed
10910910
uniprot
proteins
pubmed
10910913
uniprot
proteins
pubmed
11298607
uniprot
proteins
pubmed
11341489
uniprot
proteins
pubmed
11410838
uniprot
proteins
pubmed
11442643
uniprot
proteins
pubmed
11442647
uniprot
proteins
pubmed
11554935
uniprot
proteins
pubmed
11748850
uniprot
proteins
pubmed
11857744
uniprot
proteins
pubmed
11858487
uniprot
proteins
pubmed
12195713
uniprot
proteins
pubmed
12199686
uniprot
proteins
pubmed
12203998
uniprot
proteins
pubmed
12325022
uniprot
proteins
pubmed
12351418
uniprot
proteins
pubmed
12406074
uniprot
proteins
pubmed
12614369
uniprot
proteins
pubmed
12871415
uniprot
proteins
pubmed
12930394
uniprot
proteins
pubmed
1301194
uniprot
proteins
pubmed
1301932
uniprot
proteins
pubmed
1301960
uniprot
proteins
pubmed
1303178
uniprot
proteins
pubmed
1349567
uniprot
proteins
pubmed
1356412
uniprot
proteins
pubmed
1427887
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1554716
uniprot
proteins
pubmed
15682412
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15810915
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
1639429
uniprot
proteins
pubmed
16805874
uniprot
proteins
pubmed
18184865
uniprot
proteins
pubmed
18217133
uniprot
proteins
pubmed
1851341
uniprot
proteins
pubmed
1898735
uniprot
proteins
pubmed
1902642
uniprot
proteins
pubmed
1908096
uniprot
proteins
pubmed
1908817
uniprot
proteins
pubmed
1924291
uniprot
proteins
pubmed
1973901
uniprot
proteins
pubmed
2104766
uniprot
proteins
pubmed
2105106
uniprot
proteins
pubmed
2105906
uniprot
proteins
pubmed
2106480
uniprot
proteins
pubmed
2107542
uniprot
proteins
pubmed
21371196
uniprot
proteins
pubmed
2491949
uniprot
proteins
pubmed
2495245
uniprot
proteins
pubmed
2498882
uniprot
proteins
pubmed
2499363
uniprot
proteins
pubmed
2506948
uniprot
proteins
pubmed
2510835
uniprot
proteins
pubmed
25550078
uniprot
proteins
pubmed
26278069
uniprot
proteins
pubmed
2833855
uniprot
proteins
pubmed
2835904
uniprot
proteins
pubmed
29357978
uniprot
proteins
pubmed
3012775
uniprot
proteins
pubmed
3122181
uniprot
proteins
pubmed
32166871
uniprot
proteins
pubmed
33275657
uniprot
proteins
pubmed
3935400
uniprot
proteins
pubmed
6438526
uniprot
proteins
pubmed
6438528
uniprot
proteins
pubmed
7579394
uniprot
proteins
pubmed
7613471
uniprot
proteins
pubmed
7728145
uniprot
proteins
pubmed
7759074
uniprot
proteins
pubmed
7794769
uniprot
proteins
pubmed
7893714
uniprot
proteins
pubmed
8322269
uniprot
proteins
pubmed
8449505
uniprot
proteins
pubmed
8639447
uniprot
proteins
pubmed
8644728
uniprot
proteins
pubmed
8759905
uniprot
proteins
pubmed
9029040
uniprot
proteins
pubmed
9218428
uniprot
proteins
pubmed
9326186
uniprot
proteins
pubmed
9341862
uniprot
proteins
pubmed
9450898
uniprot
proteins
pubmed
9452104
uniprot
proteins
pubmed
9569180
uniprot
proteins
pubmed
9569189
uniprot
proteins
pubmed
9603440
uniprot
proteins
pubmed
9792405
uniprot
proteins
pubmed
9829908
uniprot
proteins
pubmed
9886318
uniprot
proteins
sequence_length
2351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space.
uniprot
proteins