DIAPH1 (Diaphanous Related Formin 1)
Key regulator of actin cytoskeleton dynamics and cell motility; associated with hearing loss and cancer
Gene Information Card
| Symbol | DIAPH1 |
|---|---|
| Full Name | diaphanous related formin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 1729 ncbi.nlm.nih.gov/gene/1729 |
| Ensembl ID | ENSG00000131504 |
| UniProt ID | O60610 |
| OMIM ID | 602121 |
| HGNC ID | 2876 |
| Aliases | DIA1, DRF1, LFHL1, DFNA1 |
Description
DIAPH1 encodes a member of the diaphanous subfamily of formin proteins, which act as effectors of Rho GTPases. The protein promotes actin polymerization and is involved in cytokinesis, cell motility, and vesicle trafficking. Mutations in DIAPH1 cause autosomal dominant nonsyndromic hearing loss (DFNA1) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 1 (DFNA1) | Missense or truncating mutations disrupt actin dynamics in cochlear hair cells, leading to progressive hearing loss. | ClinVar, OMIM |
| Breast cancer | Overexpression and amplification of DIAPH1 promote cell migration and invasion. | COSMIC, NCBI |
| Colorectal cancer | Altered DIAPH1 expression correlates with tumor progression and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.7 | Low |
| Liver | 4.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.8 | Medium |
| Cochlea | High (RNA-seq) | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 7.8 | Lung adenocarcinoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3637C>T (p.Arg1213*) | Nonsense | <0.01% | Loss of function; associated with DFNA1 |
| c.3610G>A (p.Gly1204Arg) | Missense | <0.01% | Dominant negative effect; hearing loss |
| c.511C>T (p.Arg171Trp) | Missense | 0.02% | Gain of function; cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the protein, impairing actin polymerization and leading to hearing loss.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg171Trp) enhance actin nucleation activity, promoting cell migration in cancer.
Dominant Negative (DN)
Mutations in the diaphanous autoregulatory domain (DAD) disrupt autoinhibition, causing constitutive activation or mislocalization.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • actin filament polymerization |
| • Rho protein signal transduction | • cell division |
| • cell migration | • vesicle-mediated transport |
Pathways
• Rho GTPase cycle
• Formin-mediated actin nucleation
• Signaling by Rho family GTPases
Protein Summary
DIAPH1 is a 1272-amino acid formin protein that nucleates and elongates unbranched actin filaments. It contains a GTPase-binding domain (GBD), a diaphanous inhibitory domain (DID), a formin homology 1 (FH1) domain rich in proline, a formin homology 2 (FH2) domain that mediates actin polymerization, and a diaphanous autoregulatory domain (DAD). The protein is autoinhibited in the absence of active Rho GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIAPH1 Knockout HEK293 Cell Line | EDJ-KQ3201 | Human | 1729 | Details Get a Quote |
| DIAPH1 Knockout HeLa Cell Line | EDJ-KQ23272 | Human | 1729 | Details Get a Quote |
| DIAPH1 Knockout A-549 Cell Line | EDJ-KQ24658 | Human | 1729 | Details Get a Quote |
| DIAPH1 Knockout HCT 116 Cell Line | EDJ-KQ24659 | Human | 1729 | Details Get a Quote |
