NHSL1 Gene: NHS-Like 1
A comprehensive resource for NHSL1 gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | NHSL1 |
|---|---|
| Full Name | NHS-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 149603 ncbi.nlm.nih.gov/gene/149603 |
| Ensembl ID | ENSG00000112763 |
| UniProt ID | Q5T4S7 |
| OMIM ID | 618534 |
| HGNC ID | 24719 |
| Aliases | FLJ32731, MGC138290, NHSL1 |
Description
NHSL1 (NHS-like 1) is a protein-coding gene located on chromosome 6q24.1. It encodes a protein that may be involved in actin cytoskeleton organization and cell adhesion. The gene is broadly expressed in various tissues, with notable levels in the brain and testis. Variants in NHSL1 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | Disruption of NHSL1 function may impair neuronal migration and cortical development | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.4 | Moderate expression |
| SH-SY5Y | 11.2 | High expression |
| HeLa | 4.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of normal function, associated with neurodevelopmental phenotypes.
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)
| • actin binding | • cell adhesion |
| • cytoskeleton organization | • protein binding |
Pathways
• Actin cytoskeleton regulation
• Cell adhesion molecules (CAMs)
Protein Summary
The NHSL1 protein is a 1,200-amino acid protein containing a conserved N-terminal domain and multiple coiled-coil regions. It localizes to the cytoplasm and is involved in actin dynamics and cell-cell adhesion. The protein is highly expressed in neural tissues, suggesting a role in brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHSL1 Knockout HEK293 Cell Line | EDJ-KQ14422 | Human | 57224 | Details Get a Quote |
| NHSL1 Knockout A-549 Cell Line | EDJ-KQ44627 | Human | 57224 | Details Get a Quote |
| NHSL1 Knockout HCT 116 Cell Line | EDJ-KQ44628 | Human | 57224 | Details Get a Quote |
| NHSL1 Knockout HeLa Cell Line | EDJ-KQ44629 | Human | 57224 | Details Get a Quote |
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