BICDL1
BICD Family Like Cargo Adaptor 1
Gene Information Card
| Symbol | BICDL1 |
|---|---|
| Full Name | BICD Family Like Cargo Adaptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p11.22 |
| NCBI Gene ID | 100130426 ncbi.nlm.nih.gov/gene/100130426 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q6ZP65 |
| OMIM ID | 618829 |
| HGNC ID | 37220 |
| Aliases | BICDL1, bA305P22.2, C12orf66 |
Description
BICDL1 (BICD Family Like Cargo Adaptor 1) is a protein-coding gene located on chromosome 12p11.22. It encodes a protein that belongs to the BICD family of cargo adaptors involved in microtubule-based transport. BICDL1 is thought to play a role in dynein-mediated vesicle trafficking and cellular organization. Expression is observed in multiple tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 4.1 | Low |
| Heart | 3.0 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants reported.
Gain of Function (GOF)
No known gain-of-function variants reported.
Dominant Negative (DN)
No known dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • dynein complex binding |
| • cytoplasmic transport | • vesicle-mediated transport |
Pathways
• Microtubule-based transport
• Dynein-mediated cargo transport
Protein Summary
The BICDL1 protein is a 685-amino acid cargo adaptor that interacts with dynein and microtubules. It contains a coiled-coil domain and is predicted to facilitate the transport of vesicles and organelles along microtubules. Its exact cellular functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICDL1 Knockout HEK293 Cell Line | EDJ-KQ10975 | Human | 92558 | Details Get a Quote |
| BICDL1 Knockout A-549 Cell Line | EDJ-KQ38799 | Human | 92558 | Details Get a Quote |
| BICDL1 Knockout HCT 116 Cell Line | EDJ-KQ38800 | Human | 92558 | Details Get a Quote |
| BICDL1 Knockout HeLa Cell Line | EDJ-KQ38801 | Human | 92558 | Details Get a Quote |
