Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8263
MIM: 305423
HGNC: 3547
Ensembl: ENSG00000277203
Variants:
dbSNP: 8263
ClinVar: 8263
TCGA: ENSG00000277203
COSMIC: F8A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000277203 | ENST00000610495 | P23610 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35853002 | 2022 | HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis. | 6 |
| 35871360 | 2022 | Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease. | 2 |
| 35853002 | 2022 | HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington's disease pathogenesis. | 6 |
| 35871360 | 2022 | Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease. | 2 |
| 33909994 | 2021 | Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex. | 9 |
| 34390835 | 2021 | HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease. | 7 |
| 33909994 | 2021 | Pathological polyQ expansion does not alter the conformation of the Huntingtin-HAP40 complex. | 9 |
| 34390835 | 2021 | HAP40 protein levels are huntingtin-dependent and decrease in Huntington disease. | 7 |
| 23521092 | 2013 | Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer. | 11 |
| 23521092 | 2013 | Molecular orientation of factor VIIIa on the phospholipid membrane surface determined by fluorescence resonance energy transfer. | 11 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 18299331 | 2008 | Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIa. | 19 |
Citation
Dessen P
F8A1 (coagulation factor VIII associated 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62962/f8a1-(coagulation-factor-viii-associated-1)
