NR6A1 Gene Summary [Human]
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | NR6A1 |
| Official Name | nuclear receptor subfamily 6 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7985] |
| Ensembl ID | ENSG00000148200 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 6 group A member 1 |
| Synonyms | 1700113M01Rik, CT150, GCNF, GCNF1, hGCNF, hRTR, LOC102554156, LOC253842, NCNF, NR61, nuclear receptor subfamily 6 group A member 1, nuclear receptor subfamily 6, group A, member 1, RTR |
| 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 NR6A1 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
- transcription regulator
- nucleic acid binding
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- protein binding
- sequence-specific DNA binding
- DNA binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- ligand-binding domain
- ligand-dependent nuclear receptor
- hinge domain
- protein homodimerization
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the NR6A1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cleft palate with cleft lip
- leiomyomatosis
- yolk sac neoplasm
- germ cell neoplasia
- uterine leiomyoma
- chorioallantoic membrane fusion failure
role in cell
- expression in
- differentiation
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR6A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- gamete generation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein homodimerization activity
- estrogen response element binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity