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Aliases for F8A1 Gene

Aliases for F8A1 Gene

  • Coagulation Factor VIII-Associated 1 2 3
  • F8A 3 4 6
  • Coagulation Factor VIII-Associated (Intronic Transcript) 1 2 3
  • CpG Island Protein 3 4
  • DXS522E 3 6
  • HAP40 3 6
  • Huntingtin-Associated Protein 40 3
  • Factor VIII Associated Protein 3
  • Factor VIII Intron 22 Protein 3
  • F8A1 F8A2 F8A3 4

External Ids for F8A1 Gene

Previous Symbols for F8A1 Gene

  • F8A

Summaries for F8A1 Gene

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. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade). An important paralog of this gene is F8A3.

UniProtKB/Swiss-Prot for F8A1 Gene

  • Not known. Possible housekeeping role

Gene Wiki entry for F8A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F8A1 Gene

Genomics for F8A1 Gene

Genomic Location for F8A1 Gene

Start:
154,886,349 bp from pter
End:
154,888,061 bp from pter
Size:
1,713 bases
Orientation:
Plus strand

Genomic View for F8A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for F8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F8A1 Gene

Regulatory Elements for F8A1 Gene

Proteins for F8A1 Gene

  • Protein details for F8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23610-F8I2_HUMAN
    Recommended name:
    Factor VIII intron 22 protein
    Protein Accession:
    P23610
    Secondary Accessions:
    • Q5HY66
    • Q8IXP3

    Protein attributes for F8A1 Gene

    Size:
    371 amino acids
    Molecular mass:
    39103 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA35713.1; Type=Frameshift; Positions=231, 257, 367; Evidence={ECO:0000305};

neXtProt entry for F8A1 Gene

Proteomics data for F8A1 Gene at MOPED

Post-translational modifications for F8A1 Gene

Other Protein References for F8A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for F8A1 Gene

Domains for F8A1 Gene

Protein Domains for F8A1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with F8A1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for F8A1 Gene

Function for F8A1 Gene

Molecular function for F8A1 Gene

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

Gene Ontology (GO) - Molecular Function for F8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with F8A1: view

Phenotypes for F8A1 Gene

GenomeRNAi human phenotypes for F8A1:
genes like me logo Genes that share phenotypes with F8A1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for F8A1 Gene

Localization for F8A1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F8A1 Gene COMPARTMENTS Subcellular localization image for F8A1 gene
Compartment Confidence
nucleus 4
cytosol 2
endosome 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for F8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with F8A1: view

Pathways for F8A1 Gene

genes like me logo Genes that share pathways with F8A1: view

Pathways by source for F8A1 Gene

1 BioSystems pathway for F8A1 Gene

Interacting Proteins for F8A1 Gene

Selected Interacting proteins: P23610-F8I2_HUMAN for F8A1 Gene via I2D

Gene Ontology (GO) - Biological Process for F8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with F8A1: view

Transcripts for F8A1 Gene

mRNA/cDNA for F8A1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for F8A1 Gene

Coagulation factor VIII-associated 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F8A1 Gene

No ASD Table

Relevant External Links for F8A1 Gene

GeneLoc Exon Structure for
F8A1
ECgene alternative splicing isoforms for
F8A1

Expression for F8A1 Gene

mRNA expression in normal human tissues for F8A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F8A1 Gene

This gene is overexpressed in Whole Blood (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for F8A1 Gene

SOURCE GeneReport for Unigene cluster for F8A1 Gene Hs.533543

mRNA Expression by UniProt/SwissProt for F8A1 Gene

P23610-F8I2_HUMAN
Tissue specificity: Produced abundantly in a wide variety of cell types
genes like me logo Genes that share expressions with F8A1: view

Orthologs for F8A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F8A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC617475 36
  • 84.95 (n)
  • 85.71 (a)
mouse
(Mus musculus)
Mammalia F8a 36
  • 82.91 (n)
  • 86.89 (a)
F8a 16
rat
(Rattus norvegicus)
Mammalia F8a1 36
  • 82.05 (n)
  • 86.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4255 36
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 36
  • 60.36 (n)
  • 65.06 (a)
Str.12001 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2048 36
zebrafish
(Danio rerio)
Actinopterygii Dr.17642 36
zgc:101679 36
  • 59.75 (n)
  • 60 (a)
Species with no ortholog for F8A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F8A1 Gene

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

Paralogs for F8A1 Gene

Paralogs for F8A1 Gene

Selected SIMAP similar genes for F8A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with F8A1: view

Variants for F8A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for F8A1 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
nsv508817 CNV Insertion 20534489
nsv7470 OTHER Inversion 18451855
nsv499361 OTHER Inversion 21111241

Relevant External Links for F8A1 Gene

HapMap Linkage Disequilibrium report
F8A1

No data available for Sequence variations from dbSNP and Humsavar for F8A1 Gene

Disorders for F8A1 Gene

(1) Novoseek inferred disease relationships for F8A1 Gene

Disease -log(P) Hits PubMed IDs
hemophilia a 81.5 2

Relevant External Links for F8A1

Genetic Association Database (GAD)
F8A1
Human Genome Epidemiology (HuGE) Navigator
F8A1
genes like me logo Genes that share disorders with F8A1: view

No data available for UniProtKB/Swiss-Prot for F8A1 Gene

Publications for F8A1 Gene

  1. A transcribed gene in an intron of the human factor VIII gene. (PMID: 2110545) Levinson B. … Gitschier J. (Genomics 1990) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  4. Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer. (PMID: 23521092) Wakabayashi H. … Fay P.J. (Biochem. J. 2013) 3
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 4

Products for F8A1 Gene

Sources for F8A1 Gene

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