OBSL1 Gene
Obscurin Like 1
Gene Information Card
| Symbol | OBSL1 |
|---|---|
| Full Name | obscurin like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 23363 ncbi.nlm.nih.gov/gene/23363 |
| Ensembl ID | ENSG00000124006 |
| UniProt ID | O75147 |
| OMIM ID | 610991 |
| HGNC ID | 21092 |
| Aliases | KIAA0657, MGC138207, MGC138209 |
Description
OBSL1 (obscurin like 1) encodes a cytoskeletal protein that belongs to the immunoglobulin superfamily. It is involved in the assembly and maintenance of the sarcomere and interacts with other structural proteins. Mutations in OBSL1 are associated with 3M syndrome, a disorder characterized by severe growth retardation, facial dysmorphism, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3M syndrome | Loss-of-function mutations in OBSL1 disrupt cytoskeletal organization, impairing growth and development. | ClinVar, OMIM |
| Short stature (idiopathic) | Rare variants in OBSL1 may contribute to growth failure. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 3.1 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 4.5 | Lung carcinoma |
| HeLa | 2.8 | Cervical adenocarcinoma |
| HEK 293 | 3.0 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1645C>T (p.Arg549*) | Nonsense | Rare | Loss of function; associated with 3M syndrome |
| c.1111delC (p.Leu371Trpfs*3) | Frameshift | Rare | Loss of function; associated with 3M syndrome |
Mutation functional classification
Loss of Function (LOF)
Most OBSL1 mutations are loss-of-function, leading to haploinsufficiency or truncated protein, causing 3M syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton | • sarcomere organization |
| • protein binding | • structural constituent of muscle |
Pathways
• Sarcomere assembly
• Cytoskeletal signaling
Protein Summary
OBSL1 is a 1,795-amino acid protein containing multiple immunoglobulin-like domains. It localizes to the sarcomere and interacts with obscurin and other cytoskeletal components, playing a critical role in muscle structure and growth regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OBSL1 Knockout HEK293 Cell Line | EDJ-KQ1118 | Human | 23363 | Details Get a Quote |
| OBSL1 Knockout A-549 Cell Line | EDJ-KQ18959 | Human | 23363 | Details Get a Quote |
| OBSL1 Knockout HCT 116 Cell Line | EDJ-KQ20306 | Human | 23363 | Details Get a Quote |
| OBSL1 Knockout HeLa Cell Line | EDJ-KQ20307 | Human | 23363 | Details Get a Quote |
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