NHLH1 (Nescient Helix-Loop-Helix 1)
Basic helix-loop-helix transcription factor involved in neuronal differentiation
Gene Information Card
| Symbol | NHLH1 |
|---|---|
| Full Name | Nescient Helix-Loop-Helix 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 4807 ncbi.nlm.nih.gov/gene/4807 |
| Ensembl ID | ENSG00000171786 |
| UniProt ID | P60328 |
| OMIM ID | 600510 |
| HGNC ID | 7760 |
| Aliases | HEN1, NSCL1, bHLHa35 |
Description
NHLH1 (nescient helix-loop-helix 1) encodes a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in neuronal differentiation and development. The protein forms heterodimers with other bHLH factors to regulate gene expression in the nervous system. NHLH1 is expressed in neural progenitor cells and is involved in the specification of neuronal subtypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | NHLH1 expression is associated with neuronal differentiation; reduced expression may contribute to tumorigenesis | PMID: 10402475 |
| Medulloblastoma | Dysregulation of bHLH factors including NHLH1 implicated in cerebellar tumor development | PMID: 15607980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Cerebellum | 4.1 | Low |
| Spinal cord | 2.8 | Low |
| Testis | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line; low expression |
| SK-N-BE(2) | 1.8 | Neuroblastoma cell line; low expression |
| HEK293 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional effect |
| c.100C>T | Synonymous | <0.1% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuronal differentiation (REACT:13685)
• bHLH transcription factor network (REACT:111102)
Protein Summary
NHLH1 is a 133-amino acid protein containing a basic helix-loop-helix domain (residues 55-106) that mediates DNA binding and dimerization. It functions as a transcriptional regulator during neurogenesis, often partnering with E12/E47 proteins. The protein is predominantly nuclear and is expressed in developing and adult neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHLH1 Knockout HEK293 Cell Line | EDJ-KQ5340 | Human | 4807 | Details Get a Quote |
| NHLH1 Knockout HeLa Cell Line | EDJ-KQ53992 | Human | 4807 | Details Get a Quote |
| NHLH1 Knockout A-549 Cell Line | EDJ-KQ62485 | Human | 4807 | Details Get a Quote |
| NHLH1 Knockout HCT 116 Cell Line | EDJ-KQ70950 | Human | 4807 | Details Get a Quote |
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