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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

F8A1 Gene

protein-coding   GIFtS: 52
GCID: GC0XP154114

coagulation factor VIII-associated 1

(Previous name: coagulation factor VIII-associated (intronic transcript)...)
(Previous symbol: F8A)
 Explore 6 diseases affiliated with
F8A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for F8A1    

Aliases
for F8A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Coagulation Factor VIII-Associated 11 2     HAP402
F8A1 2 3 5     Factor VIII Associated Protein2
DXS522E1 2     Factor VIII Intron 22 Protein2
Coagulation Factor VIII-Associated (Intronic Transcript) 11 2     Huntingtin-Associated Protein 402
CpG Island Protein2 3     

External Ids:    HGNC: 35471   Entrez Gene: 82632   Ensembl: ENSG000001979327   OMIM: 3054235   UniProtKB: P236103   

Export aliases for F8A1 gene to outside databases

Previous GC identifers: GC0XP153678 GC0XP153767


Summaries
for F8A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for F8A1:
This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in
the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice
extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is
conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide
variety of cell types. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610
Function: Not known. Possible housekeeping role

Gene Wiki entry for F8A1


Genomic Views
for F8A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the F8A1 gene promoter:
         Pax-5   Olf-1   AP-4   Nkx2-5   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): F8A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for F8A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F8A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

F8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F8A1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP154114:  view genomic region     (about GC identifiers)

Start:
 154,114,635 bp from pter      End:
 154,116,336 bp from pter
Size:
 1,702 bases      Orientation:
 plus strand

Proteins
for F8A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610 (See protein sequence)
Recommended Name: Factor VIII intron 22 protein  
Size: 371 amino acids; 39103 Da
Sequence caution: Sequence=AAA35713.1; Type=Frameshift; Positions=231, 257, 367;
Secondary accessions: Q5HY66 Q8IXP3

Explore the universe of human proteins at neXtProt for F8A1: NX_P23610

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23610

    • F8A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036283.2  
    ENSEMBL proteins: 
     ENSP00000358456  

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    Uscn Proteins for F8A1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----


    F8A1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for F8A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    F8A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011990 TPR-like_helical

    Graphical View of Domain Structure for InterPro Entry P23610

    ProtoNet protein and cluster: P23610


    Function
    for F8A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610
    Function: Not known. Possible housekeeping role

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for F8A1

    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----


    F8A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for F8A1:
     Increased cell number in G2M,  


    Pathways & Interactions
    for F8A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of Fibrin Clot (Clotting Cascade)
    		Blood Clotting Cascade0.36


    1 BioSystems Pathway for F8A1 
        Blood Clotting Cascade


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for F8A1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for F8A1 (P236103 ENSP000003584564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428583, ENSP000003471844I2D: score=3 STRING: ENSP00000347184
    TLR10Q9BXR53, ENSP000003089254I2D: score=1 STRING: ENSP00000308925
    SNTA1Q134243I2D: score=1 
    DNMT3AENSP000002647094STRING: ENSP00000264709
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ----


    F8A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for F8A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for F8A1
    Search CenterWatch for drugs/clinical trials and news about F8A1 / F8I2 

    Transcripts
    for F8A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for F8A1 gene: 
    NM_012151.3  

    Unigene Cluster for F8A1:

    Coagulation factor VIII-associated 1
    Hs.533543  [show with all ESTs]
    Unigene Representative Sequence: NM_012151
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369446(uc004fmv.3)

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: F8A1
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat F8A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F8A1

    9 DOTS entries:

    DT.100779256  DT.91852393  DT.415840  DT.95206260  DT.121312440  DT.100767899  DT.121291737  DT.121291769 
    DT.121303787 

    1 AceView cDNA sequence:

    BI752892 

    GeneLoc Exon Structure


    Expression
    for F8A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    F8A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATAAAGCTAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    F8A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See F8A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for F8A1

    SOURCE GeneReport for Unigene cluster: Hs.533543

    UniProtKB/Swiss-Prot: F8I2_HUMAN, P23610
    Tissue specificity: Produced abundantly in a wide variety of cell types

        SABiosciences Custom PCR Arrays for F8A1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F8A1
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for F8A1

    Orthologs
    for F8A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for F8A1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves F8A31 coagulation factor VIII-associated 3 72.98(n)
    68.93(a)    		   776915  XM_003641134.1  XP_003641182.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 62(a)
    		 1 → many
    		 GL343202.1(2091247-2092257)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.42552 Xenopus laevis transcribed sequence with weak similarity more 70.99(n)    CA988031.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.176422 Transcribed sequence with weak similarity to protein more 69.81(n)    CF266331.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG81346
    		 --
    		 21(a)
    		 1 → many
    		 X(15598158-15599764)


    ENSEMBL Gene Tree for F8A1 (if available)
    TreeFam Gene Tree for F8A1 (if available) 

    Paralogs
    for F8A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for F8A1 gene
    F8A31 2  F8A21 2  
    5 SIMAP similar genes for F8A1 using alignment to 2 protein entries:     F8I2_HUMAN (see all proteins):
    F8    SPAG10    MFGE8    RS1    F8C

    F8A1 for paralogs           About GeneDecksing



    Genomic Variants
    for F8A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for F8A1
         3 CNVs: 97110 23331 83872
         2 Inversions: 37368 37367
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for F8A1

    Disorders / Diseases
    for F8A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    F8A1 for disorders           About GeneDecksing

    OMIM gene information: 305423    OMIM disorders: --

    6 diseases for F8A1:    About MalaCards
    acquired hemophilia    hemophilia    hemangioendothelioma    huntington's disease
    hepatocellular carcinoma    carcinoma

    1 Novoseek disease relationship for F8A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemophilia a 81.5 2 19536318 (1), 1954778 (1)

    Human Genome Epidemiology (HuGE) Navigator: F8A1 (3 documents)

    Export disorders for F8A1 gene to outside databases

    Publications
    for F8A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for F8A1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with F8A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A transcribed gene in an intron of the human factor VIII gene. (PubMed id 2110545)1, 2, 3 Levinson B.... Gitschier J. (1990)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    5. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    6. SALL3 interacts with DNMT3A and shows the ability to inhibit CpG island methylation in hepatocellular carcinoma. (PubMed id 19139273)1 Shikauchi Y....Yoshikawa H. (2009)
    7. Protein S enhances the tissue factor pathway inhibitor inhibition of factor Xa but not its inhibition of factor VIIa-tissue factor. (PubMed id 18419747)1 Ndonwi M. and Broze G. (2008)
    8. Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa. (PubMed id 18299331)1 Wakabayashi H. and Fay P.J. (2008)
    9. A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation. (PubMed id 16513639)1 Parker E.T....Lollar P. (2006)
    10. Binding specificity of Toll-like receptor cytoplasmic domains. (PubMed id 16482509)1 Brown V....Fields S. (2006)

    External Searches for F8A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing F8A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8263 HGNC: 3547 AceView: F8A Ensembl:ENSG00000197932 euGenes: HUgn8263
    ECgene: F8A1 H-InvDB: F8A1

    Other Databases showing F8A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing F8A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for F8A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for F8A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for F8A1 gene:
    Search GeneIP for patents involving F8A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for F8A1 gene

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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of F8A1
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    von Willebrand factor
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