MAP7D1
Microtubule-Associated Protein 7 Domain Containing 1
Gene Information Card
| Symbol | MAP7D1 |
|---|---|
| Full Name | MAP7 domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 55700 ncbi.nlm.nih.gov/gene/55700 |
| Ensembl ID | ENSG00000116824 |
| UniProt ID | Q8IY05 |
| OMIM ID | 610114 |
| HGNC ID | 25523 |
| Aliases | FLJ10858, MGC138499, MGC138501 |
Description
MAP7D1 (MAP7 domain containing 1) is a protein-coding gene that encodes a microtubule-associated protein involved in cytoskeletal organization and cell division. The protein contains a MAP7 domain that mediates binding to microtubules, playing a role in stabilizing microtubule networks and facilitating intracellular transport. MAP7D1 is expressed in various tissues and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect microtubule dynamics and cell proliferation | COSMIC database reports mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in neuronal microtubule stability | Limited evidence from rare variant studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| SH-SY5Y | 6.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact |
| c.567_568del (p.Leu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of microtubule-binding function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • microtubule cytoskeleton organization |
| • cell division | • cytoplasm |
Pathways
• Microtubule cytoskeleton regulation
• Cell cycle
Protein Summary
The MAP7D1 protein is a 754-amino acid microtubule-associated protein that localizes to the cytoplasm and interacts with microtubules via its MAP7 domain. It is involved in stabilizing microtubule networks, regulating cell division, and may influence intracellular transport. Expression is highest in testis and brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP7D1 Knockout HEK293 Cell Line | EDJ-KQ2371 | Human | 55700 | Details Get a Quote |
| MAP7D1 Knockout HeLa Cell Line | EDJ-KQ21508 | Human | 55700 | Details Get a Quote |
| MAP7D1 Knockout A-549 Cell Line | EDJ-KQ22829 | Human | 55700 | Details Get a Quote |
| MAP7D1 Knockout HCT 116 Cell Line | EDJ-KQ22830 | Human | 55700 | Details Get a Quote |
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