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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

Additional gene information for F8A1 Gene

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

Genomics for F8A1 Gene

GeneHancer (GH) Regulatory Elements for F8A1 Gene

Promoters and enhancers for F8A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI154885 Promoter 1 EPDnew Ensembl 554.6 +0.3 252 1.6 F8A1 H2AFB1 MIR1184-1 F8
GH0XI154883 Enhancer 0.2 Ensembl 550.8 -1.7 -1749 1.6 F8A1 H2AFB1 SMIM9 F8
GH0XI154796 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.2 -84.9 -84948 10.1 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 MPP1 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1
GH0XI154760 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 26.1 -123.3 -123271 4.4 HDGF CLOCK FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF143 DKC1 F8A1 HCFC1 SNORA56 SLC10A3 SNORA70 TMLHE-AS1 EMD GC0XP154770 GC0XP154771
GH0XI155215 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 29.8 +330.5 330519 3.1 PKNOX1 ATF1 ARNT DMAP1 YY1 POLR2B GLIS2 ZNF143 FOS ATF7 VBP1 F8A1 DKC1 WASH6P SNORA70 ENSG00000224978 RAB39B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around F8A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the F8A1 gene promoter:

Genomic Locations for F8A1 Gene

Genomic Locations for F8A1 Gene
chrX:154,886,349-154,888,061
(GRCh38/hg38)
Size:
1,713 bases
Orientation:
Plus strand
chrX:154,114,635-154,116,336
(GRCh37/hg19)

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

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

Gene Families for F8A1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for F8A1 Gene

Function for F8A1 Gene

Molecular function for F8A1 Gene

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

Phenotypes From GWAS Catalog for F8A1 Gene

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

Inhibitory RNA 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 , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for F8A1 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA 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 CGAP 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 84.95 (n)
mouse
(Mus musculus)
Mammalia F8a 33
  • 82.91 (n)
rat
(Rattus norvegicus)
Mammalia F8a1 33
  • 82.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia f8a1 33
  • 60.36 (n)
Str.12001 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4255 33
zebrafish
(Danio rerio)
Actinopterygii zgc:101679 33
  • 59.75 (n)
Dr.17642 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2048 33
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 Variation AA Info Type
rs113683431 -- 154,886,026(+) G/C upstream_transcript_variant
rs142806281 -- 154,888,408(+) C/T downstream_transcript_variant
rs187979333 -- 154,885,988(+) T/C upstream_transcript_variant
rs200950959 -- 154,885,969(+) G/A/T upstream_transcript_variant
rs201105445 -- 154,885,331(+) C/T upstream_transcript_variant

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

Additional Variant Information 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 hemophilia
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

Additional Disease Information for F8A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for F8A1 Gene

Sources for F8A1 Gene

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