NHSL3: NHS-like 3
A gene encoding a protein of unknown function, with limited characterization in human biology.
Gene Information Card
| Symbol | NHSL3 |
|---|---|
| Full Name | NHS-like 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000205726 |
| UniProt ID | A6NKD9 |
| OMIM ID | Not assigned |
| HGNC ID | 37246 |
| Aliases | FLJ46361, MGC16384 |
Description
NHSL3 (NHS-like 3) is a protein-coding gene located on chromosome 1p36.13. The encoded protein shares sequence similarity with the NHS (Nance-Horan syndrome) protein, but its specific biological function remains largely uncharacterized. Limited expression data suggest low to moderate transcript levels in certain tissues. No definitive disease associations have been established as of the current knowledge cutoff.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Brain | 1.1 | Low |
| Lung | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 0.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| HeLa | 0.9 | Not detected |
| K562 | 0.7 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The NHSL3 protein (UniProt A6NKD9) is predicted to be a 456-amino acid polypeptide with no characterized domains or known functional motifs. Its sequence similarity to NHS suggests a possible role in cell adhesion or cytoskeletal organization, but experimental validation is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHSL3 Knockout HEK293 Cell Line | EDJ-KQ13925 | Human | 57648 | Details Get a Quote |
| NHSL3 Knockout A-549 Cell Line | EDJ-KQ43804 | Human | 57648 | Details Get a Quote |
| NHSL3 Knockout HCT 116 Cell Line | EDJ-KQ43805 | Human | 57648 | Details Get a Quote |
| NHSL3 Knockout HeLa Cell Line | EDJ-KQ43806 | Human | 57648 | Details Get a Quote |
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