YIF1A: YIP1 Interacting Factor Homolog A, Membrane Trafficking Regulator
A key regulator of ER-Golgi transport and neuronal development, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | YIF1A |
|---|---|
| Full Name | Yip1 interacting factor homolog A, membrane trafficking protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10897 ncbi.nlm.nih.gov/gene/10897 |
| Ensembl ID | ENSG00000175197 |
| UniProt ID | O95070 |
| OMIM ID | 611483 |
| HGNC ID | 30418 |
| Aliases | YIF1, FinGER7, Yip1-interacting factor 1 |
Description
YIF1A encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum (ER) and Golgi apparatus. It functions as a key regulator of vesicular transport between the ER and Golgi, interacting with YIP1 family members and Rab GTPases. The protein is essential for proper membrane trafficking, protein secretion, and neuronal development. Mutations in YIF1A are associated with autosomal recessive neurodevelopmental disorders, including intellectual disability and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss-of-function mutations impair ER-Golgi transport, leading to neuronal dysfunction | ClinVar, OMIM |
| Intellectual disability, autosomal recessive | Homozygous missense variants disrupt protein stability and trafficking | ClinVar, OMIM |
| Cancer (pancreatic, breast) | Altered expression may affect secretory pathway and cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 7.1 | Low |
| Liver | 6.0 | Low |
| Pancreas | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| SH-SY5Y | 18.5 | High expression in neuronal cells |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.200T>C (p.Leu67Pro) | Missense | Rare | Disrupts protein folding and stability |
| c.340G>A (p.Gly114Arg) | Missense | Rare | Impaired ER-Golgi transport |
| c.500_501del (p.Leu167fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and frameshift mutations lead to reduced protein levels or impaired trafficking, causing neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • protein transport (GO:0015031) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
| • endoplasmic reticulum (GO:0005783) | • protein binding (GO:0005515) |
Pathways
• ER to Golgi anterograde transport (Reactome: R-HSA-199977)
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
Protein Summary
YIF1A is a 36 kDa transmembrane protein with 4 predicted membrane-spanning domains. It forms a complex with YIP1A and Rab GTPases to regulate vesicle budding and fusion at the ER-Golgi interface. The protein is highly conserved in eukaryotes and is essential for neuronal survival and function. Structural studies indicate that the N-terminal cytoplasmic domain mediates interactions with trafficking machinery.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YIF1A Knockout HEK293 Cell Line | EDJ-KQ3953 | Human | 10897 | Details Get a Quote |
| YIF1A Knockout A-549 Cell Line | EDJ-KQ26216 | Human | 10897 | Details Get a Quote |
| YIF1A Knockout HCT 116 Cell Line | EDJ-KQ26217 | Human | 10897 | Details Get a Quote |
| YIF1A Knockout HeLa Cell Line | EDJ-KQ26218 | Human | 10897 | Details Get a Quote |
