Property Summary

NCBI Gene PubMed Count 20
PubMed Score 27.67
PubTator Score 23.39

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Disease Target Count Z-score Confidence
Huntington's disease 72 3.626 1.8

Synonym

Accession P23610 Q5HY66 Q8IXP3
Symbols F8A
HAP40
DXS522E

Gene

  Ortholog (1)

Species Source Disease
Rat OMA Inparanoid

Gene RIF (7)

PMID Text
23521092 Orientations for FVIIIa are identified that bind to the membrane surface and support a new interaction between the A3 domain and the membrane, probably mediated in part by Arg(1719) and Arg(1721)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18419747 Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor
18299331 analysis of the residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa
16513639 cupredoxin-like A1 subdomains in fVIII contain inter-species differences that are a result of selective pressure on the dissociation rate constant
15009463 The mutation Arg489Ala/Arg490Ala/Lys493Ala (489-3A) possessed near-normal affinity for FIXa and showed no effect on the Km for Factor X.

AA Sequence

MAAAAAGLGGGGAGPGPEAGDFLARYRLVSNKLKKRFLRKPNVAEAGEQFGQLGRELRAQECLPYAAWCQ      1 - 70
LAVARCQQALFHGPGEALALTEAARLFLRQERDARQRLVCPAAYGEPLQAAASALGAAVRLHLELGQPAA     71 - 140
AAALCLELAAALRDLGQPAAAAGHFQRAAQLQLPQLPLAALQALGEAASCQLLARDYTGALAVFTRMQRL    141 - 210
AREHGSHPVQSLPPPPPPAPQPGPGATPALPAALLPPNSGSAAPSPAALGAFSDVLVRCEVSRVLLLLLL    211 - 280
QPPPAKLLPEHAQTLEKYSWEAFDSHGQESSGQLPEELFLLLQSLVMATHEKDTEAIKSLQVEMWPLLTA    281 - 350
EQNHLLHLVLQETISPSGQGV                                                     351 - 371
//

Text Mined References (26)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23521092 2013 Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18419747 2008 Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor.
18299331 2008 Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa.
16513639 2006 A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation.
16482509 2006 Binding specificity of Toll-like receptor cytoplasmic domains.
16381901 2006 The LIFEdb database in 2006.
15772651 2005 The DNA sequence of the human X chromosome.
15687285 2005 Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15009463 2004 Clustered basic residues within segment 484-510 of the factor VIIIa A2 subunit contribute to the catalytic efficiency for factor Xa generation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11035034 2001 Isolation of a 40-kDa Huntingtin-associated protein.
8528212 1995 Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.
2110545 1990 A transcribed gene in an intron of the human factor VIII gene.
1639415 1992 Sequence of the human factor VIII-associated gene is conserved in mouse.
1427887 1992 Evidence for a third transcript from the human factor VIII gene.