YIPF5
YIPF5: A key regulator of ER-to-Golgi transport and its role in neurodevelopmental disorders
Gene Information Card
| Symbol | YIPF5 |
|---|---|
| Full Name | Yip1 domain family member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 81555 ncbi.nlm.nih.gov/gene/81555 |
| Ensembl ID | ENSG00000145850 |
| UniProt ID | Q969M3 |
| OMIM ID | 611483 |
| HGNC ID | 24853 |
| Aliases | YIP1A, YIPF5, YIP1, YIP1A, YIP1-related protein |
Description
YIPF5 (Yip1 domain family member 5) encodes a protein involved in the maintenance of the Golgi apparatus and endoplasmic reticulum (ER)-to-Golgi vesicular transport. It is a member of the Yip1 family, which functions in membrane trafficking. Mutations in YIPF5 have been associated with early infantile epileptic encephalopathy and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Early infantile epileptic encephalopathy 77 (EIEE77) | Loss-of-function mutations impair ER-to-Golgi transport, leading to neuronal dysfunction | ClinVar, OMIM #618546 |
| Microcephaly, seizures, and developmental delay | Disrupted intracellular trafficking affects brain development | OMIM #618546 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| SH-SY5Y | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | Rare | Loss of function; disrupts protein stability and trafficking |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Impaired Golgi localization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg69Trp) reduce protein stability and disrupt ER-to-Golgi transport.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • Golgi apparatus |
| • intracellular protein transport | • membrane |
Pathways
• ER-to-Golgi transport
• Vesicle-mediated transport
Protein Summary
YIPF5 is a 257-amino acid protein with a Yip1 domain, localized to the Golgi apparatus. It functions as a component of the transport protein particle (TRAPP) complex, facilitating vesicle tethering and fusion. Defects in YIPF5 lead to impaired neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YIPF5 Knockout HEK293 Cell Line | EDJ-KQ9711 | Human | 81555 | Details Get a Quote |
| YIPF5 Knockout A-549 Cell Line | EDJ-KQ36501 | Human | 81555 | Details Get a Quote |
| YIPF5 Knockout HCT 116 Cell Line | EDJ-KQ36502 | Human | 81555 | Details Get a Quote |
| YIPF5 Knockout HeLa Cell Line | EDJ-KQ36503 | Human | 81555 | Details Get a Quote |
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