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

F8A1 Gene

protein-coding   GIFtS: 54
GCID: GC0XP154114

Coagulation Factor VIII-Associated 1

(Previous name: coagulation factor VIII-associated (intronic transcript)...)
(Previous symbol: F8A)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coagulation Factor VIII-Associated 11 2     HAP402
F8A1 2 3 5     Factor VIII Associated Protein2
Coagulation Factor VIII-Associated (Intronic Transcript) 11 2     Factor VIII Intron 22 Protein2
CpG Island Protein2 3     Huntingtin-Associated Protein 402
DXS522E2     

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


(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 Gene:
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)

GeneCards Summary for F8A1 Gene: 
F8A1 (coagulation factor VIII-associated 1) is a protein-coding gene. Diseases associated with F8A1 include acquired hemophilia, and hemophilia, and among its related super-pathways are Blood Coagulation Signaling Pathways. An important paralog of this gene is F8A3.

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

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for F8A1 at MOPED 

Post-translational modifications:

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

  • F8A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    F8A1 Protein Expression
    REFSEQ proteins: NP_036283.2  
    ENSEMBL proteins: 
     ENSP00000358456  

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    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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR011990 TPR-like_helical

    Graphical View of Domain Structure for InterPro Entry P23610

    ProtoNet protein and cluster: P23610


    F8A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

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

         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


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for F8A1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for F8A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Blood Clotting Cascade0.42


    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (F8I2)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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: BC039693
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369446(uc004fmv.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate F8A1
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat F8A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F8A1

    Additional mRNA sequence: 

    BC039693.1 BC071963.1 

    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


    (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)      F8A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAAAGCTAC
    F8A1 Expression
    About this image


    F8A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule

     -- (Gastrointestinal Tract)
             visceral organ/oral region/gland   

    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
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F8A1

    (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 chordates.

    Orthologs for F8A1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F8a5 factor 8-associated gene A   --   X (37.29 cM) 73228291 
    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 --
    Uncharacterized protein
    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 


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

    (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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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
         Database of Genomic Variants (DGV) 5 variations for F8A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508817CNV Insertion20534489
    esv29972CNV Gain17803354
    esv33784CNV Gain+Loss17666407
    nsv499361OTHER Inversion21111241
    nsv7470OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 305423    OMIM disorders: --

    5 diseases for F8A1:    About MalaCards
    acquired hemophilia    hemophilia    hemangioendothelioma    blood clots
    hepatocellular carcinoma


    F8A1 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): F8A1
    Human Genome Epidemiology (HuGE) Navigator: F8A1 (3 documents)

    Export disorders for F8A1 gene to outside databases

    (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 33):
    (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. 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, 4 Bailey S.D....Anand S. (2010)
    3. 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)
    4. Molecular orientation of factor VIIIa on the phospholi pid membrane surface determined by fluorescence resonance energy transfer. (PubMed id 23521092)1 Wakabayashi H. and Fay P.J. (2013)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. 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)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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