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F8A1

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F8A1
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012151

NM_007978

RefSeq (protein)

NP_001007524
NP_001007525
NP_036283

NP_032004

Location (UCSC)Chr X: 154.89 – 154.89 MbChr X: 72.27 – 72.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000288722Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078317Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Levinson B, Kenwrick S, Lakich D, Hammonds G Jr, Gitschier J (Jun 1990). "A transcribed gene in an intron of the human factor VIII gene". Genomics. 7 (1): 1–11. doi:10.1016/0888-7543(90)90512-S. PMID 2110545.
  6. ^ a b "F8A1 coagulation factor VIII associated 1 [ Homo sapiens (human) ]".
  7. ^ "F8A2 coagulation factor VIII associated 2 [ Homo sapiens (human) ]".
  8. ^ "F8A3 coagulation factor VIII associated 3 [ Homo sapiens (human) ]".

Further reading

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