ZFYVE27
Zinc Finger FYVE-Type Containing 27
Gene Information Card
| Symbol | ZFYVE27 |
|---|---|
| Full Name | Zinc Finger FYVE-Type Containing 27 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 118813 ncbi.nlm.nih.gov/gene/118813 |
| Ensembl ID | ENSG00000166415 |
| UniProt ID | Q5T4F4 |
| OMIM ID | 610422 |
| HGNC ID | 26218 |
| Aliases | protrudin, SPG33, KIAA1826 |
Description
ZFYVE27 encodes protrudin, a protein containing a FYVE zinc finger domain that localizes to the endoplasmic reticulum and endosomes. Protrudin regulates neurite outgrowth and vesicular trafficking by interacting with Rab11 and promoting membrane contact sites. Mutations in ZFYVE27 are associated with hereditary spastic paraplegia type 33 (SPG33).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 33 (SPG33) | Missense mutations (e.g., p.Gly191Val) impair protrudin function, disrupting ER-endosome contacts and axonal transport. | OMIM #610244; ClinVar; PMID 17409311 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Spinal cord | 4.8 | Medium |
| Testis | 3.1 | Low |
| Lung | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.5 | Neuronal model |
| HeLa | 3.8 | Cervical carcinoma |
| HEK293 | 4.1 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.572G>T (p.Gly191Val) | Missense | <0.01% | Dominant-negative; causes SPG33 |
| c.2T>C (p.Met1Thr) | Missense | <0.01% | Loss of start codon; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
p.Met1Thr disrupts translation initiation, leading to loss of protrudin protein.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
p.Gly191Val produces a mutant protein that interferes with wild-type protrudin function.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum | • FYVE zinc finger domain |
| • protein binding | • phosphatidylinositol-3-phosphate binding |
| • neurite extension | • endosome to endoplasmic reticulum transport |
Pathways
• ER-endosome contact sites
• Rab11-mediated recycling
• Neurite outgrowth
Protein Summary
Protrudin (ZFYVE27) is a 442-amino acid protein with an N-terminal transmembrane domain, a central FYVE domain that binds phosphatidylinositol 3-phosphate, and a C-terminal coiled-coil region. It tethers endosomes to the ER, facilitating lipid transfer and membrane dynamics essential for neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFYVE27 Knockout HEK293 Cell Line | EDJ-KQ7631 | Human | 118813 | Details Get a Quote |
| ZFYVE27 Knockout HCT 116 Cell Line | EDJ-KQ32979 | Human | 118813 | Details Get a Quote |
| ZFYVE27 Knockout HeLa Cell Line | EDJ-KQ32980 | Human | 118813 | Details Get a Quote |
| ZFYVE27 Knockout A-549 Cell Line | EDJ-KQ31638 | Human | 118813 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
