2024-04-26 17:40:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000132 9048 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. ACCESSION NM_000132 VERSION NM_000132.3 GI:192448441 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 9048) AUTHORS Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, Keller MF, Lange L, Evans M, Bottinger EP, Linderman MD, Ruderfer DM, Hakonarson H, Papanicolaou G, Zonderman AB, Gottesman O, Thomson C, Ziv E, Singleton AB, Loos RJ, Sleiman PM, Ganesh S, McCarroll S, Becker DM, Wilson JG, Lettre G and Reiner AP. CONSRTM BioBank Japan Project; CHARGE Consortium TITLE Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network JOURNAL Hum. Mol. Genet. 22 (12), 2529-2538 (2013) PUBMED 23446634 REFERENCE 2 (bases 1 to 9048) AUTHORS Walter,J.D., Werther,R.A., Polozova,M.S., Pohlman,J., Healey,J.F., Meeks,S.L., Lollar,P. and Spiegel,P.C. Jr. TITLE Characterization and solution structure of the factor VIII C2 domain in a ternary complex with classical and non-classical inhibitor antibodies JOURNAL J. Biol. Chem. 288 (14), 9905-9914 (2013) PUBMED 23417672 REMARK GeneRIF: Characterization and solution structure of the factor VIII C2 domain in a ternary complex with classical and non-classical inhibitor antibodies REFERENCE 3 (bases 1 to 9048) AUTHORS Markovitz,R.C., Healey,J.F., Parker,E.T., Meeks,S.L. and Lollar,P. TITLE The diversity of the immune response to the A2 domain of human factor VIII JOURNAL Blood 121 (14), 2785-2795 (2013) PUBMED 23349389 REMARK GeneRIF: We characterized 29 anti-human A2 monoclonal Abs (mAbs) produced in a murine hemophilia A model. REFERENCE 4 (bases 1 to 9048) AUTHORS Takeyama,M., Wintermute,J.M., Manithody,C., Rezaie,A.R. and Fay,P.J. TITLE Variable contributions of basic residues forming an APC exosite in the binding and inactivation of factor VIIIa JOURNAL Biochemistry 52 (13), 2228-2235 (2013) PUBMED 23480827 REMARK GeneRIF: These results show a variable contribution of basic residues comprising the activated protein C exosite, with significant contributions from Lys39, Arg67, and Arg74 to forming a FVIIIa-interactive site. REFERENCE 5 (bases 1 to 9048) AUTHORS Eikenboom J, Federici AB, Dirven RJ, Castaman G, Rodeghiero F, Budde U, Schneppenheim R, Batlle J, Canciani MT, Goudemand J, Peake I and Goodeve A. CONSRTM MCMDM-1VWD Study Group TITLE VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease JOURNAL Blood 121 (12), 2336-2339 (2013) PUBMED 23349392 REMARK GeneRIF: The ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag indicate that the pathophysiological mechanisms of type 1 VWD include reduced production and accelerated clearance of VWF, but that often a combination of both mechanisms is implicated. REFERENCE 6 (bases 1 to 9048) AUTHORS Gitschier,J. and Wood,W.I. TITLE Sequence of the exon-containing regions of the human factor VIII gene JOURNAL Hum. Mol. Genet. 1 (3), 199-200 (1992) PUBMED 1303178 REFERENCE 7 (bases 1 to 9048) AUTHORS Jonsdottir,S., Diamond,C., Levinson,B., Magnusson,S., Jensson,O. and Gitschier,J. TITLE Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis JOURNAL Hum. Mutat. 1 (6), 506-508 (1992) PUBMED 1301960 REFERENCE 8 (bases 1 to 9048) AUTHORS Diamond,C., Kogan,S., Levinson,B. and Gitschier,J. TITLE Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A JOURNAL Hum. Mutat. 1 (3), 248-257 (1992) PUBMED 1301932 REFERENCE 9 (bases 1 to 9048) AUTHORS Nafa,K., Baudis,M., Deburgrave,N., Bardin,J.M., Sultan,Y., Kaplan,J.C. and Delpech,M. TITLE A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A JOURNAL Hum. Mutat. 1 (1), 77-78 (1992) PUBMED 1301194 REFERENCE 10 (bases 1 to 9048) AUTHORS Zucker,M.B., Broekman,M.J. and Kaplan,K.L. TITLE Factor VIII-related antigen in human blood platelets: localization and release by thrombin and collagen JOURNAL J. Lab. Clin. Med. 94 (5), 675-682 (1979) PUBMED 501196 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from M14113.1 and BC022513.1. This sequence is a reference standard in the RefSeqGene project. On Jun 24, 2008 this sequence version replaced gi:10518504. Summary: This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) consists of 26 exons and encodes the full-length isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M14113.1, K01740.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025098 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-9029 M14113.1 1-9029 9030-9048 BC022513.1 2518-2536 FEATURES Location/Qualifiers source 1..9048 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq28" gene 1..9048 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="coagulation factor VIII, procoagulant component" /db_xref="GeneID:2157" /db_xref="HGNC:3546" /db_xref="HPRD:02384" /db_xref="MIM:300841" exon 1..314 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" STS 1..170 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="GDB:452843" /db_xref="UniSTS:99489" misc_feature 166..168 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="upstream in-frame stop codon" CDS 172..7227 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="isoform a precursor is encoded by transcript variant 1; factor VIII F8B; coagulation factor VIIIc; antihemophilic factor" /codon_start=1 /product="coagulation factor VIII isoform a precursor" /protein_id="NP_000123.1" /db_xref="GI:4503647" /db_xref="CCDS:CCDS35457.1" /db_xref="GeneID:2157" /db_xref="HGNC:3546" /db_xref="HPRD:02384" /db_xref="MIM:300841" /translation="
MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY
" sig_peptide 172..228 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 229..7224 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /product="coagulation factor VIIIc, isoform a" mat_peptide 229..4167 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /product="activated factor VIIIc heavy chain (200 kda)" mat_peptide 229..2448 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /product="activated factor VIIIc heavy chain (92 kda)" misc_feature 439..762 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Cytochrome C oxidase subunit II, periplasmic domain; Region: COX2; cl11412" /db_xref="CDD:209309" misc_feature 823..1218 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Multicopper oxidase; Region: Cu-oxidase; pfam00394" /db_xref="CDD:201203" misc_feature 1264..1266 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 1342..1347 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="by thrombin; cleavage site" misc_feature 1342..1344 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:01488" misc_feature 1570..1887 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Cytochrome C oxidase subunit II, periplasmic domain; Region: COX2; cl11412" /db_xref="CDD:209309" misc_feature 2380..2382 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 2383..2385 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 2395..2397 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 2446..2451 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="by thrombin; cleavage site" misc_feature 2446..2448 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:01488" misc_feature 2449..5172 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P00451.1); Region: B" misc_feature 4165..4170 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Cleavage (activation); propagated from UniProtKB/Swiss-Prot (P00451.1); cleavage site" misc_feature 5170..5175 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Cleavage (activation); propagated from UniProtKB/Swiss-Prot (P00451.1); cleavage site" mat_peptide 5173..7224 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /product="activated factor VIIIc light chain (80 kda)" misc_feature 5218..5220 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 5266..5268 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="Sulfotyrosine; propagated from UniProtKB/Swiss-Prot (P00451.1); sulfatation site" misc_feature 5293..5298 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="by thrombin; active site" misc_feature 5293..5295 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:01488" misc_feature 5914..6279 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Cytochrome C oxidase subunit II, periplasmic domain; Region: COX2; cl11412" /db_xref="CDD:209309" misc_feature 6286..6735 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Coagulation factor 5/8 C-terminal domain, discoidin domain; Region: FA58C; smart00231" /db_xref="CDD:197589" misc_feature 6295..6732 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="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; Region: FA58C; cd00057" /db_xref="CDD:28939" misc_feature order(6415..6417,6493..6495,6514..6516) /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="sugar binding site [chemical binding]; other site" /db_xref="CDD:28939" misc_feature 6745..7224 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Region: phospholipid binding domain" misc_feature 6745..7206 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="Coagulation factor 5/8 C-terminal domain, discoidin domain; Region: FA58C; smart00231" /db_xref="CDD:197589" misc_feature 6754..7203 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="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; Region: FA58C; cd00057" /db_xref="CDD:28939" misc_feature order(6886..6888,6970..6972,6991..6993) /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /note="sugar binding site [chemical binding]; other site" /db_xref="CDD:28939" variation 273 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:1800283" exon 315..436 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" variation 395 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="t" /db_xref="dbSNP:1800288" exon 437..559 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 560..772 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 773..841 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 842..958 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 959..1180 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 1181..1442 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" variation 1257 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:1800289" exon 1443..1614 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 1615..1708 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" variation 1679 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:35383156" exon 1709..1923 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 1924..2074 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" variation 2037 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:1800290" exon 2075..2284 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 2285..5390 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" STS 2306..2548 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91080" /db_xref="UniSTS:415878" STS 2541..2786 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91079" /db_xref="UniSTS:415877" STS 2595..3749 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="stSG604349" /db_xref="UniSTS:447656" STS 2780..3038 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91078" /db_xref="UniSTS:415876" STS 2809..3645 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="ECD02249" /db_xref="UniSTS:283349" STS 3004..3253 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91077" /db_xref="UniSTS:415875" variation 3118 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:35295375" STS 3227..3468 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91076" /db_xref="UniSTS:415874" STS 3443..3709 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91075" /db_xref="UniSTS:415873" STS 3690..3929 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91074" /db_xref="UniSTS:415872" STS 3723..4519 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="ECD03412" /db_xref="UniSTS:284494" STS 3730..5162 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="stSG604348" /db_xref="UniSTS:447655" variation 3792 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:28370212" STS 3918..4171 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91073" /db_xref="UniSTS:415871" variation 4092 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="c" /db_xref="dbSNP:1800293" STS 4151..4408 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91072" /db_xref="UniSTS:415870" variation 4164 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:35702375" STS 4331..4610 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="GDB:450201" /db_xref="UniSTS:99279" STS 4394..4640 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91071" /db_xref="UniSTS:415869" variation 4613 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:1800294" STS 4622..4873 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91070" /db_xref="UniSTS:415868" variation 4638 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="g" /db_xref="dbSNP:35207609" variation 4671 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:33921347" variation 4692 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="c" /db_xref="dbSNP:1800295" STS 4837..5080 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91069" /db_xref="UniSTS:415867" STS 5074..5318 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN91068" /db_xref="UniSTS:415866" STS 5179..5380 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="GDB:177816" /db_xref="UniSTS:154970" exon 5391..5544 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 5545..5757 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 5758..5986 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 5987..6169 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 6170..6286 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" STS 6233..6326 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="GDB:177561" /db_xref="UniSTS:154929" exon 6287..6358 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 6359..6444 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 6445..6600 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 6601..6745 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" STS 6609..6737 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="GDB:177706" /db_xref="UniSTS:154951" exon 6746..6894 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" variation 6813 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:1800296" exon 6895..7071 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" exon 7072..9036 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /inference="alignment:Splign:1.39.8" STS 7124..7384 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90902" /db_xref="UniSTS:415700" STS 7328..7966 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="ECD09058" /db_xref="UniSTS:290104" STS 7365..7631 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90901" /db_xref="UniSTS:415699" STS 7492..8591 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="stSG604326" /db_xref="UniSTS:447636" STS 7609..7847 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90900" /db_xref="UniSTS:415698" STS 7836..8084 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90899" /db_xref="UniSTS:415697" STS 8083..8355 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90898" /db_xref="UniSTS:415696" STS 8100..8766 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="ECD08011" /db_xref="UniSTS:289059" STS 8327..8552 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90897" /db_xref="UniSTS:415695" variation 8374 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="" /replace="tccagtctgccatatcac" /db_xref="dbSNP:28370231" variation 8391..8392 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="" /replace="tccagtctgccatatcac" /db_xref="dbSNP:199597237" variation 8441 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:34700571" variation 8519 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:1396947" STS 8528..8752 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90896" /db_xref="UniSTS:415694" variation 8606 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="g" /db_xref="dbSNP:36101366" variation 8702 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="c" /replace="t" /db_xref="dbSNP:34683807" STS 8721..8878 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="STS-M14113" /db_xref="UniSTS:50477" STS 8751..9005 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /standard_name="REN90895" /db_xref="UniSTS:415693" variation 8755 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" /replace="a" /replace="c" /db_xref="dbSNP:1803603" polyA_signal 9010..9015 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" polyA_site 9036 /gene="F8" /gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA" ORIGIN
gcttagtgctgagcacatccagtgggtaaagttccttaaaatgctctgcaaagaaattgggacttttcattaaatcagaaattttacttttttcccctcctgggagctaaagatattttagagaagaattaaccttttgcttctccagttgaacatttgtagcaataagtcatgcaaatagagctctccacctgcttctttctgtgccttttgcgattctgctttagtgccaccagaagatactacctgggtgcagtggaactgtcatgggactatatgcaaagtgatctcggtgagctgcctgtggacgcaagatttcctcctagagtgccaaaatcttttccattcaacacctcagtcgtgtacaaaaagactctgtttgtagaattcacggatcaccttttcaacatcgctaagccaaggccaccctggatgggtctgctaggtcctaccatccaggctgaggtttatgatacagtggtcattacacttaagaacatggcttcccatcctgtcagtcttcatgctgttggtgtatcctactggaaagcttctgagggagctgaatatgatgatcagaccagtcaaagggagaaagaagatgataaagtcttccctggtggaagccatacatatgtctggcaggtcctgaaagagaatggtccaatggcctctgacccactgtgccttacctactcatatctttctcatgtggacctggtaaaagacttgaattcaggcctcattggagccctactagtatgtagagaagggagtctggccaaggaaaagacacagaccttgcacaaatttatactactttttgctgtatttgatgaagggaaaagttggcactcagaaacaaagaactccttgatgcaggatagggatgctgcatctgctcgggcctggcctaaaatgcacacagtcaatggttatgtaaacaggtctctgccaggtctgattggatgccacaggaaatcagtctattggcatgtgattggaatgggcaccactcctgaagtgcactcaatattcctcgaaggtcacacatttcttgtgaggaaccatcgccaggcgtccttggaaatctcgccaataactttccttactgctcaaacactcttgatggaccttggacagtttctactgttttgtcatatctcttcccaccaacatgatggcatggaagcttatgtcaaagtagacagctgtccagaggaaccccaactacgaatgaaaaataatgaagaagcggaagactatgatgatgatcttactgattctgaaatggatgtggtcaggtttgatgatgacaactctccttcctttatccaaattcgctcagttgccaagaagcatcctaaaacttgggtacattacattgctgctgaagaggaggactgggactatgctcccttagtcctcgcccccgatgacagaagttataaaagtcaatatttgaacaatggccctcagcggattggtaggaagtacaaaaaagtccgatttatggcatacacagatgaaacctttaagactcgtgaagctattcagcatgaatcaggaatcttgggacctttactttatggggaagttggagacacactgttgattatatttaagaatcaagcaagcagaccatataacatctaccctcacggaatcactgatgtccgtcctttgtattcaaggagattaccaaaaggtgtaaaacatttgaaggattttccaattctgccaggagaaatattcaaatataaatggacagtgactgtagaagatgggccaactaaatcagatcctcggtgcctgacccgctattactctagtttcgttaatatggagagagatctagcttcaggactcattggccctctcctcatctgctacaaagaatctgtagatcaaagaggaaaccagataatgtcagacaagaggaatgtcatcctgttttctgtatttgatgagaaccgaagctggtacctcacagagaatatacaacgctttctccccaatccagctggagtgcagcttgaggatccagagttccaagcctccaacatcatgcacagcatcaatggctatgtttttgatagtttgcagttgtcagtttgtttgcatgaggtggcatactggtacattctaagcattggagcacagactgacttcctttctgtcttcttctctggatataccttcaaacacaaaatggtctatgaagacacactcaccctattcccattctcaggagaaactgtcttcatgtcgatggaaaacccaggtctatggattctggggtgccacaactcagactttcggaacagaggcatgaccgccttactgaaggtttctagttgtgacaagaacactggtgattattacgaggacagttatgaagatatttcagcatacttgctgagtaaaaacaatgccattgaaccaagaagcttctcccagaattcaagacaccctagcactaggcaaaagcaatttaatgccaccacaattccagaaaatgacatagagaagactgacccttggtttgcacacagaacacctatgcctaaaatacaaaatgtctcctctagtgatttgttgatgctcttgcgacagagtcctactccacatgggctatccttatctgatctccaagaagccaaatatgagactttttctgatgatccatcacctggagcaatagacagtaataacagcctgtctgaaatgacacacttcaggccacagctccatcacagtggggacatggtatttacccctgagtcaggcctccaattaagattaaatgagaaactggggacaactgcagcaacagagttgaagaaacttgatttcaaagtttctagtacatcaaataatctgatttcaacaattccatcagacaatttggcagcaggtactgataatacaagttccttaggacccccaagtatgccagttcattatgatagtcaattagataccactctatttggcaaaaagtcatctccccttactgagtctggtggacctctgagcttgagtgaagaaaataatgattcaaagttgttagaatcaggtttaatgaatagccaagaaagttcatggggaaaaaatgtatcgtcaacagagagtggtaggttatttaaagggaaaagagctcatggacctgctttgttgactaaagataatgccttattcaaagttagcatctctttgttaaagacaaacaaaacttccaataattcagcaactaatagaaagactcacattgatggcccatcattattaattgagaatagtccatcagtctggcaaaatatattagaaagtgacactgagtttaaaaaagtgacacctttgattcatgacagaatgcttatggacaaaaatgctacagctttgaggctaaatcatatgtcaaataaaactacttcatcaaaaaacatggaaatggtccaacagaaaaaagagggccccattccaccagatgcacaaaatccagatatgtcgttctttaagatgctattcttgccagaatcagcaaggtggatacaaaggactcatggaaagaactctctgaactctgggcaaggccccagtccaaagcaattagtatccttaggaccagaaaaatctgtggaaggtcagaatttcttgtctgagaaaaacaaagtggtagtaggaaagggtgaatttacaaaggacgtaggactcaaagagatggtttttccaagcagcagaaacctatttcttactaacttggataatttacatgaaaataatacacacaatcaagaaaaaaaaattcaggaagaaatagaaaagaaggaaacattaatccaagagaatgtagttttgcctcagatacatacagtgactggcactaagaatttcatgaagaaccttttcttactgagcactaggcaaaatgtagaaggttcatatgacggggcatatgctccagtacttcaagattttaggtcattaaatgattcaacaaatagaacaaagaaacacacagctcatttctcaaaaaaaggggaggaagaaaacttggaaggcttgggaaatcaaaccaagcaaattgtagagaaatatgcatgcaccacaaggatatctcctaatacaagccagcagaattttgtcacgcaacgtagtaagagagctttgaaacaattcagactcccactagaagaaacagaacttgaaaaaaggataattgtggatgacacctcaacccagtggtccaaaaacatgaaacatttgaccccgagcaccctcacacagatagactacaatgagaaggagaaaggggccattactcagtctcccttatcagattgccttacgaggagtcatagcatccctcaagcaaatagatctccattacccattgcaaaggtatcatcatttccatctattagacctatatatctgaccagggtcctattccaagacaactcttctcatcttccagcagcatcttatagaaagaaagattctggggtccaagaaagcagtcatttcttacaaggagccaaaaaaaataacctttctttagccattctaaccttggagatgactggtgatcaaagagaggttggctccctggggacaagtgccacaaattcagtcacatacaagaaagttgagaacactgttctcccgaaaccagacttgcccaaaacatctggcaaagttgaattgcttccaaaagttcacatttatcagaaggacctattccctacggaaactagcaatgggtctcctggccatctggatctcgtggaagggagccttcttcagggaacagagggagcgattaagtggaatgaagcaaacagacctggaaaagttccctttctgagagtagcaacagaaagctctgcaaagactccctccaagctattggatcctcttgcttgggataaccactatggtactcagataccaaaagaagagtggaaatcccaagagaagtcaccagaaaaaacagc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//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:2157 -> Molecular function: GO:0005507 [copper ion binding] evidence: IEA GeneID:2157 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:2157 -> Molecular function: GO:0016491 [oxidoreductase activity] evidence: IEA GeneID:2157 -> Biological process: GO:0002576 [platelet degranulation] evidence: TAS GeneID:2157 -> Biological process: GO:0006953 [acute-phase response] evidence: IEA GeneID:2157 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA GeneID:2157 -> Biological process: GO:0007596 [blood coagulation] evidence: TAS GeneID:2157 -> Biological process: GO:0007597 [blood coagulation, intrinsic pathway] evidence: TAS GeneID:2157 -> Biological process: GO:0030168 [platelet activation] evidence: TAS GeneID:2157 -> Cellular component: GO:0005576 [extracellular region] evidence: NAS GeneID:2157 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS GeneID:2157 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA GeneID:2157 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:2157 -> Cellular component: GO:0031093 [platelet alpha granule lumen] evidence: TAS
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