ALKAL1
ALK Receptor Tyrosine Kinase Like 1
Gene Information Card
| Symbol | ALKAL1 |
|---|---|
| Full Name | ALK receptor tyrosine kinase like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617603 |
| HGNC ID | 44038 |
| Aliases | FAM150A, ALKAL1 |
Description
ALKAL1 (ALK receptor tyrosine kinase like 1) is a protein-coding gene located on chromosome 8q11.23. It encodes a ligand for the ALK receptor tyrosine kinase, playing a role in neuronal development and signaling. The gene is also known as FAM150A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | ALKAL1 activates ALK signaling, contributing to oncogenesis | PMID: 25762140 |
| ALK-positive anaplastic large cell lymphoma | ALKAL1 may act as a ligand for ALK fusions | PMID: 25762140 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 2.1 | Embryonic kidney |
| A549 | 1.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A | Missense | 0.01% | Unknown |
| c.350C>T | Nonsense | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
Missense mutations may enhance ALK binding and signaling.
Dominant Negative (DN)
No dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • receptor ligand activity | • extracellular region |
| • ALK receptor binding |
Pathways
• ALK signaling in neuroblastoma
• RTK signaling
Protein Summary
ALKAL1 encodes a secreted protein that acts as a ligand for the ALK receptor tyrosine kinase. It is involved in neuronal development and has been implicated in ALK-driven cancers such as neuroblastoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKAL1 Knockout HEK293 Cell Line | EDJ-KQ12333 | Human | 389658 | Details Get a Quote |
| ALKAL1 Knockout HeLa Cell Line | EDJ-KQ60096 | Human | 389658 | Details Get a Quote |
| ALKAL1 Knockout A-549 Cell Line | EDJ-KQ68559 | Human | 389658 | Details Get a Quote |
| ALKAL1 Knockout HCT 116 Cell Line | EDJ-KQ76934 | Human | 389658 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
