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Aliases for F8A3 Gene

Aliases for F8A3 Gene

  • Coagulation Factor VIII-Associated 3 2 3 5
  • Coagulation Factor VIII-Associated (Intronic Transcript) 3 2
  • CpG Island Protein 4
  • F8A1 F8A2 F8A3 4
  • F8A 4

External Ids for F8A3 Gene

Previous GeneCards Identifiers for F8A3 Gene

  • GC00U917959
  • GC0XU900555
  • GC0XM154339
  • GC0XM154686

Summaries for F8A3 Gene

Entrez Gene Summary for F8A3 Gene

  • This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. 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 F8A3 Gene

F8A3 (Coagulation Factor VIII-Associated 3) is a Protein Coding gene. Diseases associated with F8A3 include Severe Hemophilia A. An important paralog of this gene is F8A2.

UniProtKB/Swiss-Prot for F8A3 Gene

  • Not known. Possible housekeeping role.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F8A3 Gene

Genomics for F8A3 Gene

Regulatory Elements for F8A3 Gene


Promoters for F8A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001919653 472 2001

Genomic Location for F8A3 Gene

Chromosome:
X
Start:
155,456,914 bp from pter
End:
155,458,672 bp from pter
Size:
1,759 bases
Orientation:
Minus strand

Genomic View for F8A3 Gene

Genes around F8A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F8A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F8A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F8A3 Gene

Proteins for F8A3 Gene

  • Protein details for F8A3 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 F8A3 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 F8A3 Gene

Post-translational modifications for F8A3 Gene

  • Ubiquitination at Lys 40
  • Modification sites at PhosphoSitePlus

Other Protein References for F8A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for F8A3 Gene

Domains & Families for F8A3 Gene

Protein Domains for F8A3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for F8A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with F8A3: view

No data available for Gene Families and UniProtKB/Swiss-Prot for F8A3 Gene

Function for F8A3 Gene

Molecular function for F8A3 Gene

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

Gene Ontology (GO) - Molecular Function for F8A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with F8A3: view

Phenotypes for F8A3 Gene

GenomeRNAi human phenotypes for F8A3:
genes like me logo Genes that share phenotypes with F8A3: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for F8A3 Gene

Localization for F8A3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F8A3 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for F8A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with F8A3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for F8A3 Gene

Pathways & Interactions for F8A3 Gene

No Data Available

Interacting Proteins for F8A3 Gene

Selected Interacting proteins: P23610-F8I2_HUMAN for F8A3 Gene via IID

Gene Ontology (GO) - Biological Process for F8A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with F8A3: view

No data available for Pathways by source and SIGNOR curated interactions for F8A3 Gene

Transcripts for F8A3 Gene

mRNA/cDNA for F8A3 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for F8A3 Gene

No ASD Table

Relevant External Links for F8A3 Gene

GeneLoc Exon Structure for
F8A3
ECgene alternative splicing isoforms for
F8A3

Expression for F8A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F8A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F8A3 Gene

This gene is overexpressed in Whole Blood (x8.4) and Heart - Left Ventricle (x5.6).

Protein differential expression in normal tissues from HIPED for F8A3 Gene

This gene is overexpressed in Fetal Brain (8.4) and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for F8A3 Gene



Protein tissue co-expression partners for F8A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of F8A3 Gene:

F8A3

mRNA Expression by UniProt/SwissProt for F8A3 Gene:

P23610-F8I2_HUMAN
Tissue specificity: Produced abundantly in a wide variety of cell types.
genes like me logo Genes that share expression patterns with F8A3: view

Primer Products

Orthologs for F8A3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F8A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC617475 34
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia F8a 34 16
  • 82.91 (n)
rat
(Rattus norvegicus)
Mammalia F8a1 34
  • 82.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 34
  • 60.36 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:101679 34
  • 59.75 (n)
Species where no ortholog for F8A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 F8A3 Gene

ENSEMBL:
Gene Tree for F8A3 (if available)
TreeFam:
Gene Tree for F8A3 (if available)

Paralogs for F8A3 Gene

Paralogs for F8A3 Gene

genes like me logo Genes that share paralogs with F8A3: view

Variants for F8A3 Gene

Sequence variations from dbSNP and Humsavar for F8A3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs11630 -- 155,457,167(+) GCGTT(A/G)GGTGG downstream-variant-500B, upstream-variant-2KB
rs12390268 -- 155,458,987(+) TTTCT(A/G)GACTG downstream-variant-500B, upstream-variant-2KB
rs12390269 -- 155,458,988(+) TTCTG(C/G)ACTGT downstream-variant-500B, upstream-variant-2KB
rs12687404 -- 155,457,875(+) AGCGC(A/G)GCCGG downstream-variant-500B, reference, synonymous-codon
rs5940498 -- 155,460,529(-) ggttg(C/T)caggg upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for F8A3 Gene

Variant ID Type Subtype PubMed ID
dgv2549e212 CNV gain 25503493
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3577568 CNV gain 25503493
esv3577574 CNV gain 25503493
nsv1076287 CNV deletion 25765185
nsv499361 OTHER inversion 21111241
nsv508817 CNV insertion 20534489
nsv7470 OTHER inversion 18451855

Relevant External Links for F8A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
F8A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for F8A3 Gene

Disorders for F8A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for F8A3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
severe hemophilia a
  • severe factor viii deficiency
- elite association - COSMIC cancer census association via MalaCards
Search F8A3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for F8A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F8A3
genes like me logo Genes that share disorders with F8A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for F8A3 Gene

Publications for F8A3 Gene

  1. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  2. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PMID: 22223895) Bienvenut W.V. … Giglione C. (Mol. Cell Proteomics 2012) 4 64
  3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  4. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64
  5. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PMID: 19413330) Gauci S. … Mohammed S. (Anal. Chem. 2009) 4 64

Products for F8A3 Gene

Sources for F8A3 Gene

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