KEGG   Homo sapiens (human): 2157
Entry
2157              CDS       T01001                                 
Symbol
F8, AHF, DXS1253E, F8B, F8C, FVIII, HEMA, THPH13
Name
(RefSeq) coagulation factor VIII isoform a preproprotein
  KO
K03899  coagulation factor VIII
Organism
hsa  Homo sapiens (human)
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06514  Coagulation cascade
  Element
N01509  Intrinsic pathway of coagulation cascade, F8 activation
Disease
H00219  Hemophilia
H00223  Inherited thrombophilia
Drug target
Coagulation factor VIII (DG00170): D05401 D05409<JP> D08232 D08798<JP> D10227<JP> D10539<JP> D10758<JP> D10759<JP> D10760<JP> D10771<JP> D10818<JP> D10830 D10831<JP> D10842<JP> D12441<JP>
Desmopressin (DG00497): D00291 D02235<JP/US>
Valoctocogene roxaparvovec: D12434
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04610 Complement and coagulation cascades
    2157 (F8)
SSDB
Motif
Pfam: F5_F8_type_C Cu-oxidase_3 Cu-oxidase_2 F5_F8_type_C_2
Other DBs
NCBI-GeneID: 2157
NCBI-ProteinID: NP_000123
OMIM: 300841
HGNC: 3546
Ensembl: ENSP00000353393.4
CPD: C04001
UniProt: P00451
Structure
Position
X:complement(154835792..155022723)
AA seq 2351 aa
MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN
TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV
GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH
VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD
AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH
RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE
EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA
PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL
LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP
TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE
NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS
IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG
MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI
PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS
PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST
SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE
NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN
KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL
NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG
QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN
LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD
GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT
SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE
KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY
RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP
KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP
GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL
NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE
IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR
AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR
PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV
DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA
PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH
VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC
QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII
HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN
PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA
TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL
ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM
EVLGCEAQDLY
NT seq 7056 nt   +upstreamnt  +downstreamnt
atgcaaatagagctctccacctgcttctttctgtgccttttgcgattctgctttagtgcc
accagaagatactacctgggtgcagtggaactgtcatgggactatatgcaaagtgatctc
ggtgagctgcctgtggacgcaagatttcctcctagagtgccaaaatcttttccattcaac
acctcagtcgtgtacaaaaagactctgtttgtagaattcacggatcaccttttcaacatc
gctaagccaaggccaccctggatgggtctgctaggtcctaccatccaggctgaggtttat
gatacagtggtcattacacttaagaacatggcttcccatcctgtcagtcttcatgctgtt
ggtgtatcctactggaaagcttctgagggagctgaatatgatgatcagaccagtcaaagg
gagaaagaagatgataaagtcttccctggtggaagccatacatatgtctggcaggtcctg
aaagagaatggtccaatggcctctgacccactgtgccttacctactcatatctttctcat
gtggacctggtaaaagacttgaattcaggcctcattggagccctactagtatgtagagaa
gggagtctggccaaggaaaagacacagaccttgcacaaatttatactactttttgctgta
tttgatgaagggaaaagttggcactcagaaacaaagaactccttgatgcaggatagggat
gctgcatctgctcgggcctggcctaaaatgcacacagtcaatggttatgtaaacaggtct
ctgccaggtctgattggatgccacaggaaatcagtctattggcatgtgattggaatgggc
accactcctgaagtgcactcaatattcctcgaaggtcacacatttcttgtgaggaaccat
cgccaggcgtccttggaaatctcgccaataactttccttactgctcaaacactcttgatg
gaccttggacagtttctactgttttgtcatatctcttcccaccaacatgatggcatggaa
gcttatgtcaaagtagacagctgtccagaggaaccccaactacgaatgaaaaataatgaa
gaagcggaagactatgatgatgatcttactgattctgaaatggatgtggtcaggtttgat
gatgacaactctccttcctttatccaaattcgctcagttgccaagaagcatcctaaaact
tgggtacattacattgctgctgaagaggaggactgggactatgctcccttagtcctcgcc
cccgatgacagaagttataaaagtcaatatttgaacaatggccctcagcggattggtagg
aagtacaaaaaagtccgatttatggcatacacagatgaaacctttaagactcgtgaagct
attcagcatgaatcaggaatcttgggacctttactttatggggaagttggagacacactg
ttgattatatttaagaatcaagcaagcagaccatataacatctaccctcacggaatcact
gatgtccgtcctttgtattcaaggagattaccaaaaggtgtaaaacatttgaaggatttt
ccaattctgccaggagaaatattcaaatataaatggacagtgactgtagaagatgggcca
actaaatcagatcctcggtgcctgacccgctattactctagtttcgttaatatggagaga
gatctagcttcaggactcattggccctctcctcatctgctacaaagaatctgtagatcaa
agaggaaaccagataatgtcagacaagaggaatgtcatcctgttttctgtatttgatgag
aaccgaagctggtacctcacagagaatatacaacgctttctccccaatccagctggagtg
cagcttgaggatccagagttccaagcctccaacatcatgcacagcatcaatggctatgtt
tttgatagtttgcagttgtcagtttgtttgcatgaggtggcatactggtacattctaagc
attggagcacagactgacttcctttctgtcttcttctctggatataccttcaaacacaaa
atggtctatgaagacacactcaccctattcccattctcaggagaaactgtcttcatgtcg
atggaaaacccaggtctatggattctggggtgccacaactcagactttcggaacagaggc
atgaccgccttactgaaggtttctagttgtgacaagaacactggtgattattacgaggac
agttatgaagatatttcagcatacttgctgagtaaaaacaatgccattgaaccaagaagc
ttctcccagaattcaagacaccctagcactaggcaaaagcaatttaatgccaccacaatt
ccagaaaatgacatagagaagactgacccttggtttgcacacagaacacctatgcctaaa
atacaaaatgtctcctctagtgatttgttgatgctcttgcgacagagtcctactccacat
gggctatccttatctgatctccaagaagccaaatatgagactttttctgatgatccatca
cctggagcaatagacagtaataacagcctgtctgaaatgacacacttcaggccacagctc
catcacagtggggacatggtatttacccctgagtcaggcctccaattaagattaaatgag
aaactggggacaactgcagcaacagagttgaagaaacttgatttcaaagtttctagtaca
tcaaataatctgatttcaacaattccatcagacaatttggcagcaggtactgataataca
agttccttaggacccccaagtatgccagttcattatgatagtcaattagataccactcta
tttggcaaaaagtcatctccccttactgagtctggtggacctctgagcttgagtgaagaa
aataatgattcaaagttgttagaatcaggtttaatgaatagccaagaaagttcatgggga
aaaaatgtatcgtcaacagagagtggtaggttatttaaagggaaaagagctcatggacct
gctttgttgactaaagataatgccttattcaaagttagcatctctttgttaaagacaaac
aaaacttccaataattcagcaactaatagaaagactcacattgatggcccatcattatta
attgagaatagtccatcagtctggcaaaatatattagaaagtgacactgagtttaaaaaa
gtgacacctttgattcatgacagaatgcttatggacaaaaatgctacagctttgaggcta
aatcatatgtcaaataaaactacttcatcaaaaaacatggaaatggtccaacagaaaaaa
gagggccccattccaccagatgcacaaaatccagatatgtcgttctttaagatgctattc
ttgccagaatcagcaaggtggatacaaaggactcatggaaagaactctctgaactctggg
caaggccccagtccaaagcaattagtatccttaggaccagaaaaatctgtggaaggtcag
aatttcttgtctgagaaaaacaaagtggtagtaggaaagggtgaatttacaaaggacgta
ggactcaaagagatggtttttccaagcagcagaaacctatttcttactaacttggataat
ttacatgaaaataatacacacaatcaagaaaaaaaaattcaggaagaaatagaaaagaag
gaaacattaatccaagagaatgtagttttgcctcagatacatacagtgactggcactaag
aatttcatgaagaaccttttcttactgagcactaggcaaaatgtagaaggttcatatgac
ggggcatatgctccagtacttcaagattttaggtcattaaatgattcaacaaatagaaca
aagaaacacacagctcatttctcaaaaaaaggggaggaagaaaacttggaaggcttggga
aatcaaaccaagcaaattgtagagaaatatgcatgcaccacaaggatatctcctaataca
agccagcagaattttgtcacgcaacgtagtaagagagctttgaaacaattcagactccca
ctagaagaaacagaacttgaaaaaaggataattgtggatgacacctcaacccagtggtcc
aaaaacatgaaacatttgaccccgagcaccctcacacagatagactacaatgagaaggag
aaaggggccattactcagtctcccttatcagattgccttacgaggagtcatagcatccct
caagcaaatagatctccattacccattgcaaaggtatcatcatttccatctattagacct
atatatctgaccagggtcctattccaagacaactcttctcatcttccagcagcatcttat
agaaagaaagattctggggtccaagaaagcagtcatttcttacaaggagccaaaaaaaat
aacctttctttagccattctaaccttggagatgactggtgatcaaagagaggttggctcc
ctggggacaagtgccacaaattcagtcacatacaagaaagttgagaacactgttctcccg
aaaccagacttgcccaaaacatctggcaaagttgaattgcttccaaaagttcacatttat
cagaaggacctattccctacggaaactagcaatgggtctcctggccatctggatctcgtg
gaagggagccttcttcagggaacagagggagcgattaagtggaatgaagcaaacagacct
ggaaaagttccctttctgagagtagcaacagaaagctctgcaaagactccctccaagcta
ttggatcctcttgcttgggataaccactatggtactcagataccaaaagaagagtggaaa
tcccaagagaagtcaccagaaaaaacagcttttaagaaaaaggataccattttgtccctg
aacgcttgtgaaagcaatcatgcaatagcagcaataaatgagggacaaaataagcccgaa
atagaagtcacctgggcaaagcaaggtaggactgaaaggctgtgctctcaaaacccacca
gtcttgaaacgccatcaacgggaaataactcgtactactcttcagtcagatcaagaggaa
attgactatgatgataccatatcagttgaaatgaagaaggaagattttgacatttatgat
gaggatgaaaatcagagcccccgcagctttcaaaagaaaacacgacactattttattgct
gcagtggagaggctctgggattatgggatgagtagctccccacatgttctaagaaacagg
gctcagagtggcagtgtccctcagttcaagaaagttgttttccaggaatttactgatggc
tcctttactcagcccttataccgtggagaactaaatgaacatttgggactcctggggcca
tatataagagcagaagttgaagataatatcatggtaactttcagaaatcaggcctctcgt
ccctattccttctattctagccttatttcttatgaggaagatcagaggcaaggagcagaa
cctagaaaaaactttgtcaagcctaatgaaaccaaaacttacttttggaaagtgcaacat
catatggcacccactaaagatgagtttgactgcaaagcctgggcttatttctctgatgtt
gacctggaaaaagatgtgcactcaggcctgattggaccccttctggtctgccacactaac
acactgaaccctgctcatgggagacaagtgacagtacaggaatttgctctgtttttcacc
atctttgatgagaccaaaagctggtacttcactgaaaatatggaaagaaactgcagggct
ccctgcaatatccagatggaagatcccacttttaaagagaattatcgcttccatgcaatc
aatggctacataatggatacactacctggcttagtaatggctcaggatcaaaggattcga
tggtatctgctcagcatgggcagcaatgaaaacatccattctattcatttcagtggacat
gtgttcactgtacgaaaaaaagaggagtataaaatggcactgtacaatctctatccaggt
gtttttgagacagtggaaatgttaccatccaaagctggaatttggcgggtggaatgcctt
attggcgagcatctacatgctgggatgagcacactttttctggtgtacagcaataagtgt
cagactcccctgggaatggcttctggacacattagagattttcagattacagcttcagga
caatatggacagtgggccccaaagctggccagacttcattattccggatcaatcaatgcc
tggagcaccaaggagcccttttcttggatcaaggtggatctgttggcaccaatgattatt
cacggcatcaagacccagggtgcccgtcagaagttctccagcctctacatctctcagttt
atcatcatgtatagtcttgatgggaagaagtggcagacttatcgaggaaattccactgga
accttaatggtcttctttggcaatgtggattcatctgggataaaacacaatatttttaac
cctccaattattgctcgatacatccgtttgcacccaactcattatagcattcgcagcact
cttcgcatggagttgatgggctgtgatttaaatagttgcagcatgccattgggaatggag
agtaaagcaatatcagatgcacagattactgcttcatcctactttaccaatatgtttgcc
acctggtctccttcaaaagctcgacttcacctccaagggaggagtaatgcctggagacct
caggtgaataatccaaaagagtggctgcaagtggacttccagaagacaatgaaagtcaca
ggagtaactactcagggagtaaaatctctgcttaccagcatgtatgtgaaggagttcctc
atctccagcagtcaagatggccatcagtggactctcttttttcagaatggcaaagtaaag
gtttttcagggaaatcaagactccttcacacctgtggtgaactctctagacccaccgtta
ctgactcgctaccttcgaattcacccccagagttgggtgcaccagattgccctgaggatg
gaggttctgggctgcgaggcacaggacctctactga

  All links  
Disease (3)   
   OMIM (3)   
Gene (26)   
   RefGene (20)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (44)   
   RefSeq(nuc) (2)   
   GenBank (21)   
   EMBL (21)   
3D Structure (25)   
   PDB (25)   
Protein domain (4)   
   Pfam (4)   
All databases (106)   

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