F8A1

40-kDa huntingtin-associated protein also known as (Coagulation factor VIII associated 1) is a protein that in humans is encoded by the F8A1, F8A2, and F8A3 genes.^[5][6][7][8]

AliasesF8A1, DXS522E, F8A, HAP40, coagulation factor VIII-associated 1, coagulation factor VIII associated 1

External IDsOMIM: 305423; MGI: 95474; HomoloGene: 128316; GeneCards: F8A1; OMA:F8A1 - orthologs

Chr.X chromosome (human)^[1]

End154,888,061 bp^[1]

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F8A1
Identifiers
Aliases	F8A1, DXS522E, F8A, HAP40, coagulation factor VIII-associated 1, coagulation factor VIII associated 1
External IDs	OMIM: 305423; MGI: 95474; HomoloGene: 128316; GeneCards: F8A1; OMA:F8A1 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 154,886,355 bp[1] End 154,888,061 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A7.3|X 37.29 cM Start 72,271,897 bp[2] End 72,274,401 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood muscle tissue testicle brain hippocampus proper liver putamen caudate nucleus dorsolateral prefrontal cortex Top expressed in primary oocyte muscle of thigh urethra right kidney ankle joint secondary oocyte neural tube islet of Langerhans dentate gyrus of hippocampal formation granule cell pharynx More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function protein binding Cellular component nucleus Biological process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8263 14070 Ensembl ENSG00000288722 ENSMUSG00000078317 UniProt P23610 Q9JJQ6 RefSeq (mRNA) NM_012151 NM_007978 RefSeq (protein) NP_001007524 NP_001007525 NP_036283 NP_032004 Location (UCSC) Chr X: 154.89 – 154.89 Mb Chr X: 72.27 – 72.27 Mb PubMed search [3] [4]
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F8A1 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 F8A1, is repeated twice extragenically closer to the Xq telomere (genes F8A2, F8A3). 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.^[6]