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F8 (coagulation factor VIII, procoagulant component)

Identity

Other namesAHF
DXS1253E
F8B
F8C
FVIII
HEMA
HGNC (Hugo) F8
LocusID (NCBI) 2157
Location Xq28
Location_base_pair Starts at 154064064 and ends at 154250998 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)F8   3546
Cards
Entrez_Gene (NCBI)F8  2157  coagulation factor VIII, procoagulant component
GeneCards (Weizmann)F8
Ensembl (Hinxton)ENSG00000185010 [Gene_View]  chrX:154064064-154250998 [Contig_View]  F8 [Vega]
ICGC DataPortalENSG00000185010
cBioPortalF8
AceView (NCBI)F8
Genatlas (Paris)F8
WikiGenes2157
SOURCE (Princeton)NM_000132 NM_019863
Genomic and cartography
GoldenPath (UCSC)F8  -  Xq28   chrX:154064064-154250998 -  Xq28   [Description]    (hg19-Feb_2009)
EnsemblF8 - Xq28 [CytoView]
Mapping of homologs : NCBIF8 [Mapview]
OMIM300841   
Gene and transcription
Genbank (Entrez)AK289947 AK292902 AK295164 AK307726 AK313707
RefSeq transcript (Entrez)NM_000132 NM_019863
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_011403 NT_011681 NW_001842420 NW_004929448
Consensus coding sequences : CCDS (NCBI)F8
Cluster EST : UnigeneHs.654450 [ NCBI ]
CGAP (NCI)Hs.654450
Alternative Splicing : Fast-db (Paris)GSHG0032446
Alternative Splicing GalleryENSG00000185010
Gene ExpressionF8 [ NCBI-GEO ]     F8 [ SEEK ]   F8 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00451 (Uniprot)
NextProtP00451  [Medical]
With graphics : InterProP00451
Splice isoforms : SwissVarP00451 (Swissvar)
Domaine pattern : Prosite (Expaxy)FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    MULTICOPPER_OXIDASE1 (PS00079)   
Domains : Interpro (EBI)Coagulation_fac_5/8-C_type_dom [organisation]   Cu-oxidase [organisation]   Cu-oxidase_2 [organisation]   Cu-oxidase_3 [organisation]   Cu_oxidase_Cu_BS [organisation]   Cupredoxin [organisation]   Factor_5/8 [organisation]   Factor_8 [organisation]   Galactose-bd-like [organisation]  
Related proteins : CluSTrP00451
Domain families : Pfam (Sanger)Cu-oxidase (PF00394)    Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)    F5_F8_type_C (PF00754)   
Domain families : Pfam (NCBI)pfam00394    pfam07731    pfam07732    pfam00754   
Domain families : Smart (EMBL)FA58C (SM00231)  
DMDM Disease mutations2157
Blocks (Seattle)P00451
PDB (SRS)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (PDBSum)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (IMB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (RSDB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
Human Protein AtlasENSG00000185010 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP00451
HPRD02384
IPIIPI00017603   IPI00930595   IPI00969422   IPI00930468   IPI00657892   IPI00852817   IPI00925597   
Protein Interaction databases
DIP (DOE-UCLA)P00451
IntAct (EBI)P00451
FunCoupENSG00000185010
BioGRIDF8
InParanoidP00451
Interologous Interaction database P00451
IntegromeDBF8
STRING (EMBL)F8
Ontologies - Pathways
Ontology : AmiGOplatelet degranulation  serine-type endopeptidase activity  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  proteolysis  acute-phase response  cell adhesion  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  platelet activation  platelet alpha granule lumen  oxidation-reduction process  
Ontology : EGO-EBIplatelet degranulation  serine-type endopeptidase activity  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  proteolysis  acute-phase response  cell adhesion  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  platelet activation  platelet alpha granule lumen  oxidation-reduction process  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
Protein Interaction DatabaseF8
Wikipedia pathwaysF8
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)F8
snp3D : Map Gene to Disease2157
SNP (GeneSNP Utah)F8
SNP : HGBaseF8
Genetic variants : HAPMAPF8
Exome VariantF8
1000_GenomesF8 
ICGC programENSG00000185010 
Somatic Mutations in Cancer : COSMICF8 
CONAN: Copy Number AnalysisF8 
Mutations and Diseases : HGMDF8
Genomic VariantsF8  F8 [DGVbeta]
dbVarF8
ClinVarF8
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300841   
MedgenF8
GENETestsF8
Disease Genetic AssociationF8
Huge Navigator F8 [HugePedia]  F8 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneF8
Homology/Alignments : Family Browser (UCSC)F8
Phylogenetic Trees/Animal Genes : TreeFamF8
Chemical/Protein Interactions : CTD2157
Chemical/Pharm GKB GenePA27952
Clinical trialF8
Cancer Resource (Charite)ENSG00000185010
Other databases
Probes
Litterature
PubMed487 Pubmed reference(s) in Entrez
CoreMineF8
iHOPF8
OncoSearchF8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:31:18 CEST 2014

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