BICD1
BICD Cargo Adaptor 1
Gene Information Card
| Symbol | BICD1 |
|---|---|
| Full Name | BICD Cargo Adaptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p11.22 |
| NCBI Gene ID | 636 ncbi.nlm.nih.gov/gene/636 |
| Ensembl ID | ENSG00000135929 |
| UniProt ID | Q96G01 |
| OMIM ID | 602204 |
| HGNC ID | 1049 |
| Aliases | BICD, BICD1A, BICD1B, FLJ20171 |
Description
BICD1 encodes a protein that functions as an adaptor for the dynein motor complex, facilitating the transport of cargo along microtubules. It is involved in processes such as Golgi dynamics, nuclear positioning, and mRNA localization. BICD1 is expressed in various tissues and has been implicated in cellular trafficking and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy with lower extremity predominance (SMALED) | Disrupted dynein-mediated transport due to BICD1 mutations | PMID: 25620205 |
| Amyotrophic lateral sclerosis (ALS) | Potential role in motor neuron transport defects | PMID: 29670284 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Medium |
| Lung | 6.2 | Low |
| Heart | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| HeLa | 8.5 | Cervical carcinoma |
| SH-SY5Y | 7.3 | Neuroblastoma |
| A549 | 6.0 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Cys) | Missense | <0.01% | Altered dynein binding |
| c.1250G>A (p.Arg417His) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair dynein-mediated transport, leading to motor neuron degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects observed in some missense variants disrupting cargo binding.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • dynein complex binding |
| • cytoplasmic transport | • Golgi organization |
| • nuclear migration |
Pathways
• Dynein-mediated cargo transport
• Microtubule-based movement
Protein Summary
The BICD1 protein is a 824-amino acid coiled-coil adaptor that links cargo to the dynein-dynactin motor complex. It contains an N-terminal dynein-binding domain and C-terminal cargo-binding regions. BICD1 is essential for retrograde transport in neurons and plays a role in maintaining Golgi integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICD1 Knockout HEK293 Cell Line | EDJ-KQ4133 | Human | 636 | Details Get a Quote |
| BICD1 Knockout A-549 Cell Line | EDJ-KQ26553 | Human | 636 | Details Get a Quote |
| BICD1 Knockout HCT 116 Cell Line | EDJ-KQ26554 | Human | 636 | Details Get a Quote |
| BICD1 Knockout HeLa Cell Line | EDJ-KQ26555 | Human | 636 | Details Get a Quote |
