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Aliases for F8A1 Gene

Aliases for F8A1 Gene

  • Coagulation Factor VIII-Associated 1 2 3 5
  • Coagulation Factor VIII-Associated (Intronic Transcript) 1 2 3
  • CpG Island Protein 3 4
  • F8A 3 4
  • Huntingtin-Associated Protein 40 3
  • Factor VIII Associated Protein 3
  • Factor VIII Intron 22 Protein 3
  • F8A1 F8A2 F8A3 4
  • DXS522E 3
  • HAP40 3

External Ids for F8A1 Gene

Previous HGNC Symbols for F8A1 Gene

  • F8A

Previous GeneCards Identifiers for F8A1 Gene

  • GC0XP153678
  • GC0XP153767
  • GC0XP154114

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 Retiform Hemangioendothelioma and Acquired 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

Regulatory Elements for F8A1 Gene

Enhancers for F8A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF154796 1.5 FANTOM5 ENCODE 39.1 -84.9 -84949 10.1 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 FOS KLF13 F8A1 SNORA56 F8A2 EMD SNORA70 SNORA36A DKC1 MIR664B IKBKG TMLHE
GH0XF154723 1.7 FANTOM5 Ensembl ENCODE 32.5 -154.3 -154349 18.0 HDGF PKNOX1 ZFP64 SIN3A ZNF2 GLIS2 ELK1 ZNF143 KLF7 FOS SNORA70 F8A1 SNORA56 EMD PLXNA3 HCFC1 F8A2 DKC1 MIR664B MPP1
GH0XF154717 1.7 FANTOM5 Ensembl ENCODE 31.5 -167.4 -167404 3.7 HDGF PKNOX1 ARNT ARID4B ZNF121 GLIS2 ZNF766 GATA2 ZNF143 ZNF263 F8A1 GAB3 F8A2 MPP1 IKBKG EMD DNASE1L1 TAZ TEX28 OR3B1P
GH0XF154794 1.3 FANTOM5 Ensembl ENCODE 35.3 -91.2 -91173 1.6 SCRT1 MAZ HLF ZNF664 ZFP69B ZNF335 ZNF692 POLR2A GABPB1 CEBPA F8A1 SNORA36A DKC1 MIR664B MPP1 SNORA56 F8A2 FAM3A IKBKG GAB3
GH0XF154826 1.5 FANTOM5 Ensembl ENCODE 28.2 -58.4 -58409 2.0 ELF3 MLX ARID4B DMAP1 RAD21 THRB ZSCAN9 ZNF48 YY1 RARA F8A1 F8A2 SNORA36A DKC1 MIR664B IKBKG GAB3 EMD MPP1 DNASE1L1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around F8A1 on UCSC Golden Path with GeneCards custom track

Promoters for F8A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000483272 351 1801 GLIS1 ZBTB33

Genomic Location for F8A1 Gene

Chromosome:
X
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

Genes around F8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for F8A1 Gene

  • Ubiquitination at Lys 40
  • Modification sites at PhosphoSitePlus

Other Protein References for F8A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for F8A1 Gene

Domains & Families for F8A1 Gene

Protein Domains for F8A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for F8A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for F8A1 Gene

Localization for F8A1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for F8A1 Gene

Pathways & Interactions 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 IID

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

No data available for SIGNOR curated interactions for F8A1 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for F8A1 Gene

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

This gene is overexpressed in Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for F8A1 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 F8A1 Gene



Protein tissue co-expression partners for F8A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of F8A1 Gene:

F8A1

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 expression patterns with F8A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for F8A1 Gene

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 34
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia F8a 34
  • 82.91 (n)
rat
(Rattus norvegicus)
Mammalia F8a1 34
  • 82.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 34
  • 60.36 (n)
Str.12001 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4255 34
zebrafish
(Danio rerio)
Actinopterygii zgc:101679 34
  • 59.75 (n)
Dr.17642 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2048 34
Species where no ortholog for F8A1 was found in the sources mined by GeneCards:
  • 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

(5) 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

Sequence variations from dbSNP and Humsavar for F8A1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs113683431 -- 154,886,026(+) GTTTC(C/G)TTTGG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs142806281 -- 154,888,408(+) TTTTC(C/T)CCCCG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs187979333 -- 154,885,988(+) CAGTC(C/T)AGAAA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs200950959 -- 154,885,969(+) CGGGG(A/G)GGGGG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs201105445 -- 154,885,331(+) CACAA(C/T)GACAG intron-variant, upstream-variant-2KB, reference, synonymous-codon

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

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

Relevant External Links for F8A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
F8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for F8A1 Gene

Disorders for F8A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for F8A1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
retiform hemangioendothelioma
acquired hemophilia a
  • acquired factor 8 deficiency
acquired hemophilia
  • acquired haemophilia
severe hemophilia a
  • severe factor viii deficiency
- elite association - COSMIC cancer census association via MalaCards
Search F8A1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for F8A1

Genetic Association Database (GAD)
F8A1
Human Genome Epidemiology (HuGE) Navigator
F8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F8A1
genes like me logo Genes that share disorders with F8A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. 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 64
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  5. 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 64

Products for F8A1 Gene

Sources for F8A1 Gene

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