MAP6D1
Microtubule-Associated Protein 6 Domain Containing 1
Gene Information Card
| Symbol | MAP6D1 |
|---|---|
| Full Name | Microtubule-Associated Protein 6 Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 79971 ncbi.nlm.nih.gov/gene/79971 |
| Ensembl ID | ENSG00000163930 |
| UniProt ID | Q9BUF5 |
| OMIM ID | 616947 |
| HGNC ID | 28738 |
| Aliases | MAP6 domain-containing protein 1, FLJ22662 |
Description
MAP6D1 (Microtubule-Associated Protein 6 Domain Containing 1) is a protein-coding gene located on chromosome 3q27.1. It encodes a protein that contains a microtubule-associated protein 6 (MAP6) domain, suggesting a role in microtubule binding and stabilization. The gene is expressed in various tissues, with notable levels in the brain. Its function is not fully characterized, but it may be involved in neuronal development and cytoskeletal dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| SH-SY5Y | 18.2 | Neuronal cell line |
| HeLa | 7.8 | Low expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • cytoskeleton |
| • protein binding |
Pathways
• Microtubule cytoskeleton organization
Protein Summary
The MAP6D1 protein (UniProt Q9BUF5) is a 244-amino acid protein containing a MAP6 domain. It is predicted to bind microtubules and may play a role in stabilizing microtubule networks. Expression data suggest enrichment in brain tissues, indicating a potential function in neuronal cells. No disease-associated mutations have been reported in ClinVar or COSMIC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP6D1 Knockout HEK293 Cell Line | EDJ-KQ14196 | Human | 79929 | Details Get a Quote |
| MAP6D1 Knockout HCT 116 Cell Line | EDJ-KQ44142 | Human | 79929 | Details Get a Quote |
| MAP6D1 Knockout HeLa Cell Line | EDJ-KQ57257 | Human | 79929 | Details Get a Quote |
| MAP6D1 Knockout A-549 Cell Line | EDJ-KQ65769 | Human | 79929 | Details Get a Quote |
