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F8A1 Gene

protein-coding   GIFtS: 52
GCID: GC0XP154114

Coagulation Factor VIII-Associated 1

(Previous name: coagulation factor VIII-associated (intronic transcript)...)
(Previous symbol: F8A)
  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)
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Aliases
Coagulation Factor VIII-Associated 11 2     HAP402 5
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 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 severe hemophilia a. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   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 Chromatin IP Primers for F8A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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


See F8A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_036283.2  
ENSEMBL proteins: 
 ENSP00000358456  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

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

     Gene Ontology (GO): 1 molecular function term:    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:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
cytosol2
endosome2
extracellular1
mitochondrion1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

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

F8A1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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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


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Interactions:

    Search GeneGlobe Interaction Network 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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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)
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  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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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F8A1 expression in normal human tissues (normalized intensities)
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
 
 Liver (Hepatobiliary System)
         Liver Lobule
F8A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

F8A1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.533543

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

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QuantiFast Probe-based Assays in human, mouse, rat F8A1
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)
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This gene was present in the common ancestor of chordates.

Orthologs for F8A1 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia F8a1 , 5 factor 8-associated gene A1, 5 82.91(n)1
86.89(a)1
  X (37.29 cM)5
140701  NM_007978.31  NP_032004.21 
 732282915 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
64(a)
1 → many
4(2093390-2094514)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
63(a)
1 → many
GL343202.1(2091247-2092257)
African clawed frog
(Xenopus laevis)
Amphibia Xl.42552 Xenopus laevis transcribed sequence with weak similarity to protein spP23610 (H.sapiens) F8I2_HUMAN Factor VIII intron 22 protein (CpG island protein) less 70.99(n)    CA988031.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.176422 Transcribed sequence with weak similarity to protein spP23610 (H.sapiens) F8I2_HUMAN Factor VIII intron 22 protein (CpG island protein) less 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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 305423    OMIM disorders: --

5 diseases for F8A1:    
About MalaCards
acquired hemophilia    severe hemophilia a    hemophilia    hemangioendothelioma
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)
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PubMed articles for F8A1 gene, integrated from 10 sources (see all 35):
(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. (Genomics 1990)
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Genome Res. 2004)
  4. Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer. (PubMed id 23521092)1 Wakabayashi H. and Fay P.J. (Biochem. J. 2013)
  5. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
  6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
  9. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
  10. SALL3 interacts with DNMT3A and shows the ability to inhibit CpG island methylation in hepatocellular carcinoma. (PubMed id 19139273)1 Shikauchi Y....Yoshikawa H. (Mol. Cell. Biol. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 8263 HGNC: 3547 AceView: F8A Ensembl:ENSG00000197932 euGenes: HUgn8263
ECgene: F8A1 H-InvDB: F8A1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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