MYRIP: Myosin VIIA and Rab Interacting Protein
A key player in vesicle trafficking and retinal function
Gene Information Card
| Symbol | MYRIP |
|---|---|
| Full Name | Myosin VIIA and Rab Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 25907 ncbi.nlm.nih.gov/gene/25907 |
| Ensembl ID | ENSG00000114529 |
| UniProt ID | Q8NFW9 |
| OMIM ID | 611790 |
| HGNC ID | 25545 |
| Aliases | SLAC2C, exophilin-8, MyRIP |
Description
MYRIP (myosin VIIA and Rab interacting protein) encodes a protein that links Rab27A on melanosomes and secretory granules to myosin VIIA, facilitating actin-based vesicle transport. It is essential for melanosome distribution in retinal pigment epithelium and for insulin granule exocytosis in pancreatic beta cells. Mutations in MYRIP are associated with retinal degeneration and hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of melanosome transport in RPE leads to photoreceptor degeneration | ClinVar, OMIM |
| Usher syndrome type 2 | Impaired vesicle trafficking in cochlear hair cells | OMIM |
| Type 2 diabetes (candidate) | Altered insulin granule exocytosis in beta cells | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Thyroid | 6.1 | Low |
| Testis | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 15.2 | Retinal pigment epithelium |
| MIN6 | 22.1 | Pancreatic beta cells |
| HeLa | 1.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, associated with retinitis pigmentosa |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, associated with Usher syndrome |
| c.890A>G (p.Gln297Arg) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein, disrupting vesicle transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • Rab GTPase binding (GO:0017137) | • secretory granule (GO:0030141) |
| • melanosome (GO:0032400) | • actin filament-based movement (GO:0051015) |
Pathways
• Rab27A-mediated vesicle trafficking
• Melanosome transport
• Insulin secretion
Protein Summary
MYRIP is a 729-amino acid protein containing an N-terminal Rab-binding domain and a C-terminal myosin VIIA-binding domain. It acts as a linker between Rab27A on vesicle membranes and myosin VIIA on actin filaments, enabling directed transport of melanosomes in retinal pigment epithelium and secretory granules in endocrine cells. The protein is also known as exophilin-8 and SLAC2C.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYRIP Knockout HEK293 Cell Line | EDJ-KQ8303 | Human | 25924 | Details Get a Quote |
| MYRIP Knockout HeLa Cell Line | EDJ-KQ55850 | Human | 25924 | Details Get a Quote |
| MYRIP Knockout A-549 Cell Line | EDJ-KQ64339 | Human | 25924 | Details Get a Quote |
| MYRIP Knockout HCT 116 Cell Line | EDJ-KQ72792 | Human | 25924 | Details Get a Quote |
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