YIF1B
Yip1 Interacting Factor Homolog B, Membrane Trafficking Protein
Gene Information Card
| Symbol | YIF1B |
|---|---|
| Full Name | Yip1 interacting factor homolog B |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 90522 ncbi.nlm.nih.gov/gene/90522 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q5BVD1 |
| OMIM ID | 617300 |
| HGNC ID | 30413 |
| Aliases | Yip1B, FinGER7, YIF1B_HUMAN |
Description
YIF1B encodes a member of the Yip1 family of membrane proteins involved in endoplasmic reticulum (ER)-to-Golgi transport. The protein interacts with YIP1 and Rab GTPases to regulate vesicle trafficking and Golgi morphology. It is ubiquitously expressed with highest levels in brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair ER-Golgi trafficking leading to neuronal dysfunction | ClinVar: pathogenic variants in YIF1B associated with autosomal recessive disorder |
| Intellectual disability | Disrupted vesicle transport affects synaptic function and brain development | OMIM #617300 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 10.2 | High |
| Kidney | 6.8 | Medium |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.9 | Embryonic kidney cells |
| SH-SY5Y | 11.3 | Neuroblastoma cells |
| HeLa | 5.2 | Cervical cancer cells |
| HepG2 | 4.0 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; premature truncation |
| c.518G>A (p.Arg173Gln) | Missense | Rare | Likely damaging; altered protein interaction |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause truncated protein and loss of trafficking function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in YIF1B.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • integral component of membrane (GO:0016021) |
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
| • transport vesicle (GO:0030133) |
Pathways
• REACT:21369 ~ Vesicle-mediated transport
• REACT:111102 ~ ER-Golgi trafficking
Protein Summary
YIF1B is a 305-amino acid transmembrane protein with four predicted membrane-spanning domains. It localizes to the ER and Golgi, where it forms complexes with YIP1 and Rab GTPases to facilitate vesicle budding and fusion. The protein is essential for maintaining Golgi structure and efficient protein secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YIF1B Knockout HEK293 Cell Line | EDJ-KQ9904 | Human | 90522 | Details Get a Quote |
| YIF1B Knockout A-549 Cell Line | EDJ-KQ38099 | Human | 90522 | Details Get a Quote |
| YIF1B Knockout HCT 116 Cell Line | EDJ-KQ38101 | Human | 90522 | Details Get a Quote |
| YIF1B Knockout HeLa Cell Line | EDJ-KQ38102 | Human | 90522 | Details Get a Quote |
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