SYBU (Syntabulin) Gene
Comprehensive gene information for SYBU, encoding syntabulin, a protein involved in intracellular transport and neuronal function.
Gene Information Card
| Symbol | SYBU |
|---|---|
| Full Name | syntabulin |
| Gene Type | protein-coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 55638 ncbi.nlm.nih.gov/gene/55638 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 610874 |
| HGNC ID | 28737 |
| Aliases | FLJ22624, MGC138290, MGC138291 |
Description
SYBU (syntabulin) is a protein-coding gene located on chromosome 8q23.1. It encodes syntabulin, a peripheral membrane protein that links kinesin-1 to cargo vesicles, playing a critical role in anterograde axonal transport of mitochondria and synaptic vesicles. SYBU is involved in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of axonal transport due to SYBU mutations may impair neuronal connectivity and synaptic function. | ClinVar; PMID: 25439727 |
| Schizophrenia | SYBU variants have been associated with altered synaptic vesicle transport, potentially contributing to neuropsychiatric phenotypes. | ClinVar; PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuronal cell line; high expression |
| HEK 293 | 3.2 | Low expression |
| HeLa | 2.8 | Low expression |
| K562 | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Likely benign; reported in ClinVar |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Uncertain significance; ClinVar |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.01% | Likely pathogenic; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys412Glufs*3) are predicted to cause loss of function by truncating the protein, impairing cargo binding and axonal transport.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SYBU.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SYBU.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Kinesin-mediated axonal transport of mitochondria
• Synaptic vesicle transport
Protein Summary
Syntabulin is a 638-amino acid protein that functions as a kinesin-1 adaptor, linking cargo vesicles to microtubule motors. It contains a coiled-coil domain for dimerization and a transmembrane domain for membrane association. Syntabulin is essential for anterograde transport of mitochondria and synaptic vesicles in neurons, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYBU Knockout HEK293 Cell Line | EDJ-KQ15576 | Human | 55638 | Details Get a Quote |
| SYBU Knockout A-549 Cell Line | EDJ-KQ46441 | Human | 55638 | Details Get a Quote |
| SYBU Knockout HCT 116 Cell Line | EDJ-KQ46442 | Human | 55638 | Details Get a Quote |
| SYBU Knockout HeLa Cell Line | EDJ-KQ46443 | Human | 55638 | Details Get a Quote |
