Identity
HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
DFNA1,DIA1,DRF1,LFHL1,SCBMS,hDIA1
FUSION GENES
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: 1729
MIM: 602121
HGNC: 2876
Ensembl: ENSG00000131504
Variants:
dbSNP: 1729
ClinVar: 1729
TCGA: ENSG00000131504
COSMIC: DIAPH1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36448548 | 2024 | The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease. | 2 |
| 36448548 | 2024 | The RAGE/DIAPH1 axis: mediator of obesity and proposed biomarker of human cardiometabolic disease. | 2 |
| 37070486 | 2023 | New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia. | 0 |
| 37400591 | 2023 | Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease. | 2 |
| 37543941 | 2023 | An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. | 1 |
| 37832872 | 2023 | Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity. | 1 |
| 37903764 | 2023 | DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress. | 5 |
| 37070486 | 2023 | New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia. | 0 |
| 37400591 | 2023 | Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease. | 2 |
| 37543941 | 2023 | An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. | 1 |
| 37832872 | 2023 | Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity. | 1 |
| 37903764 | 2023 | DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress. | 5 |
| 34822025 | 2022 | Circ_0044556 Promotes the Progression of Colorectal Cancer via the miR-665-Dependent Expression Regulation of Diaphanous Homolog 1. | 6 |
| 34968485 | 2022 | DIAPH1 facilitates paclitaxel-mediated cytotoxicity of ovarian cancer cells. | 1 |
| 35185386 | 2022 | Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study. | 1 |
Citation
Dessen P
DIAPH1 (diaphanous related formin 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45842/diaph1
