ATRNL1
Attractin-like 1 gene
Gene Information Card
| Symbol | ATRNL1 |
|---|---|
| Full Name | attractin-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 26033 ncbi.nlm.nih.gov/gene/26033 |
| Ensembl ID | ENSG00000107518 |
| UniProt ID | Q5VU97 |
| OMIM ID | 614706 |
| HGNC ID | 24039 |
| Aliases | KIAA0534, MGC138290, MGC138291 |
Description
ATRNL1 (attractin-like 1) is a protein-coding gene located on chromosome 10q25.3. It encodes a large transmembrane protein with EGF-like and CUB domains, involved in cell adhesion and signaling. The gene is broadly expressed in brain, heart, and other tissues. Mutations in ATRNL1 have been implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function variants disrupt protein function, leading to developmental delay | ClinVar, OMIM #614706 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain cortex | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| SH-SY5Y | 14.3 | Higher expression in neuronal cells |
| HeLa | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, associated with neurodevelopmental disorder |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature stop codons or truncated protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • protein binding |
| • membrane | • signal transduction |
Pathways
• Cell adhesion molecules (CAMs)
• Neuroactive ligand-receptor interaction
Protein Summary
The ATRNL1 protein is a type I transmembrane protein containing EGF-like and CUB domains. It is predicted to function in cell-cell adhesion and signaling, particularly in neural tissues. The protein is conserved across vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATRNL1 Knockout HEK293 Cell Line | EDJ-KQ8363 | Human | 26033 | Details Get a Quote |
| ATRNL1 Knockout HeLa Cell Line | EDJ-KQ55870 | Human | 26033 | Details Get a Quote |
| ATRNL1 Knockout A-549 Cell Line | EDJ-KQ64360 | Human | 26033 | Details Get a Quote |
| ATRNL1 Knockout HCT 116 Cell Line | EDJ-KQ72810 | Human | 26033 | Details Get a Quote |
