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2024-04-20 02:59:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_019863 2617 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens coagulation factor VIII, procoagulant component (F8),
transcript variant 2, mRNA.
ACCESSION NM_019863
VERSION NM_019863.2 GI:66346691
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 2617)
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 BI547023.1, BC064380.1 and
BC022513.1.
On May 19, 2005 this sequence version replaced gi:10518505.
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 (2) contains an unique 5' exon
located within intron 22 of transcript variant 1. This exon codes
for eight amino acids and is spliced to exons 23-26 maintaining the
reading frame. The resulting isoform (b) is considerably shorter
compared to isoform a, and includes the phospholipid binding
domain.
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 :: BC098389.1, BC064380.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-21 BI547023.1 21-41
22-2462 BC064380.1 1-2441
2463-2617 BC022513.1 2382-2536
FEATURES Location/Qualifiers
source 1..2617
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq28"
gene 1..2617
/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..169
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/inference="alignment:Splign:1.39.8"
variation 69..70
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="a"
/replace="g"
/db_xref="dbSNP:11557451"
STS 113..1019
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/db_xref="UniSTS:488119"
CDS 146..796
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/note="isoform b is encoded by transcript variant 2;
factor VIII F8B; coagulation factor VIIIc; antihemophilic
factor"
/codon_start=1
/product="coagulation factor VIII isoform b"
/protein_id="NP_063916.1"
/db_xref="GI:10518506"
/db_xref="CCDS:CCDS44026.1"
/db_xref="GeneID:2157"
/db_xref="HGNC:3546"
/db_xref="HPRD:02384"
/db_xref="MIM:300841"
/translation="
MRIQDPGKVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY
"
misc_feature 146..169
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/note="Region: region encoded by the alternative exon"
misc_feature <155..301
/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;
cl12042"
/db_xref="CDD:209427"
misc_feature <164..304
/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 314..793
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/note="Region: phospholipid binding domain"
misc_feature 314..775
/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 323..772
/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(455..457,539..541,560..562)
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/note="sugar binding site [chemical binding]; other site"
/db_xref="CDD:28939"
exon 170..314
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/inference="alignment:Splign:1.39.8"
STS 178..306
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="GDB:177706"
/db_xref="UniSTS:154951"
exon 315..463
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/inference="alignment:Splign:1.39.8"
variation 382
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="c"
/replace="t"
/db_xref="dbSNP:1800296"
exon 464..640
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/inference="alignment:Splign:1.39.8"
exon 641..2605
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/inference="alignment:Splign:1.39.8"
STS 693..953
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90902"
/db_xref="UniSTS:415700"
STS 897..1535
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="ECD09058"
/db_xref="UniSTS:290104"
STS 934..1200
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90901"
/db_xref="UniSTS:415699"
STS 1061..2160
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="stSG604326"
/db_xref="UniSTS:447636"
STS 1178..1416
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90900"
/db_xref="UniSTS:415698"
STS 1405..1653
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90899"
/db_xref="UniSTS:415697"
STS 1652..1924
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90898"
/db_xref="UniSTS:415696"
STS 1669..2335
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="ECD08011"
/db_xref="UniSTS:289059"
STS 1896..2121
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90897"
/db_xref="UniSTS:415695"
variation 1943
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace=""
/replace="tccagtctgccatatcac"
/db_xref="dbSNP:28370231"
variation 1960..1961
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace=""
/replace="tccagtctgccatatcac"
/db_xref="dbSNP:199597237"
variation 2010
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="a"
/replace="g"
/db_xref="dbSNP:34700571"
variation 2088
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="a"
/replace="g"
/db_xref="dbSNP:1396947"
STS 2097..2321
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90896"
/db_xref="UniSTS:415694"
variation 2175
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="a"
/replace="g"
/db_xref="dbSNP:36101366"
variation 2271
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="c"
/replace="t"
/db_xref="dbSNP:34683807"
STS 2290..2447
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="STS-M14113"
/db_xref="UniSTS:50477"
STS 2320..2574
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/standard_name="REN90895"
/db_xref="UniSTS:415693"
variation 2324
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803603"
polyA_signal 2579..2584
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
polyA_site 2605
/gene="F8"
/gene_synonym="AHF; DXS1253E; F8B; F8C; FVIII; HEMA"
ORIGIN
gcgtccccctcggcgggctgccgccgtgcccgcgccggctccccagcccgagcctgccccttgccctgatgaggtgcaaagagcgggatcggaggcggggcctggccgggctgtgagcggcgtatgcaaatcgagggtctcggggatgcggatccaagaccctgggaaggtcttctttggcaatgtggattcatctgggataaaacacaatatttttaaccctccaattattgctcgatacatccgtttgcacccaactcattatagcattcgcagcactcttcgcatggagttgatgggctgtgatttaaatagttgcagcatgccattgggaatggagagtaaagcaatatcagatgcacagattactgcttcatcctactttaccaatatgtttgccacctggtctccttcaaaagctcgacttcacctccaagggaggagtaatgcctggagacctcaggtgaataatccaaaagagtggctgcaagtggacttccagaagacaatgaaagtcacaggagtaactactcagggagtaaaatctctgcttaccagcatgtatgtgaaggagttcctcatctccagcagtcaagatggccatcagtggactctcttttttcagaatggcaaagtaaaggtttttcagggaaatcaagactccttcacacctgtggtgaactctctagacccaccgttactgactcgctaccttcgaattcacccccagagttgggtgcaccagattgccctgaggatggaggttctgggctgcgaggcacaggacctctactgagggtggccactgcagcacctgccactgccgtcacctctccctcctcagctccagggcagtgtccctccctggcttgccttctacctttgtgctaaatcctagcagacactgccttgaagcctcctgaattaactatcatcagtcctgcatttctttggtggggggccaggagggtgcatccaatttaacttaactcttacctattttctgcagctgctcccagattactccttccttccaatataactaggcaaaaagaagtgaggagaaacctgcatgaaagcattcttccctgaaaagttaggcctctcagagtcaccacttcctctgttgtagaaaaactatgtgatgaaactttgaaaaagatatttatgatgttaacatttcaggttaagcctcatacgtttaaaataaaactctcagttgtttattatcctgatcaagcatggaacaaagcatgtttcaggatcagatcaatacaatcttggagtcaaaaggcaaatcatttggacaatctgcaaaatggagagaatacaataactactacagtaaagtctgtttctgcttccttacacatagatataattatgttatttagtcattatgaggggcacattcttatctccaaaactagcattcttaaactgagaattatagatggggttcaagaatccctaagtcccctgaaattatataaggcattctgtataaatgcaaatgtgcatttttctgacgagtgtccatagatataaagccatttggtcttaattctgaccaataaaaaaataagtcaggaggatgcaattgttgaaagctttgaaataaaataacaatgtcttcttgaaatttgtgatggccaagaaagaaaatgatgatgacattaggcttctaaaggacatacatttaatatttctgtggaaatatgaggaaaatccatggttatctgagataggagatacaaactttgtaattctaataatgcactcagtttactctctccctctactaatttcctgctgaaaataacacaacaaaaatgtaacaggggaaattatataccgtgactgaaaactagagtcctacttacatagttgaaatatcaaggaggtcagaagaaaattggactggtgaaaacagaaaaaacactccagtctgccatatcaccacacaataggatcccccttcttgccctccacccccataagattgtgaagggtttactgctccttccatctgcctgaccccttcactatgactacacagaatctcctgatagtaaagggggctggaggcaaggataagttatagagcagttggaggaagcatccaaagattgcaacccagggcaaatggaaaacaggagatcctaatatgaaagaaaaatggatcccaatctgagaaaaggcaaaagaatggctacttttttctatgctggagtattttctaataatcctgcttgacccttatctgacctctttggaaactataacatagctgtcacagtatagtcacaatccacaaatgatgcaggtgcaaatggtttatagccctgtgaagttcttaaagtttagaggctaacttacagaaatgaataagttgttttgttttatagcccggtagaggagttaaccccaaaggtgatatggttttatttcctgttatgtttaacttgataatcttattttggcattcttttcccattgactatatacatctctatttctcaaatgttcatggaactagctcttttattttcctgctggtttcttcagtaatgagttaaataaaacattgacacatacaaacaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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