NHLH1 Gene Summary [Human]
The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]
Details
| Type | Protein Coding |
| Official Symbol | NHLH1 |
| Official Name | nescient helix-loop-helix 1 [Source:HGNC Symbol;Acc:HGNC:7817] |
| Ensembl ID | ENSG00000171786 |
| Bio databases IDs | |
| Aliases | nescient helix-loop-helix 1 |
| Synonyms | bHLHa35, HEN1, nescient helix-loop-helix 1, NSCL, NSCL1, Tal2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NHLH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- helix-loop-helix domain
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- bladder cancer
- ventricular extrasystole
- variation QT syndrome
- arrhythmia
- ventricular fibrillation
regulates
- RNA polymerase II
- DNA endogenous promoter
- DNA promoter
role in cell
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NHLH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity