SOHLH1 Gene Summary [Human]
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | SOHLH1 |
| Official Name | spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Source:HGNC Symbol;Acc:HGNC:27845] |
| Ensembl ID | ENSG00000165643 |
| Bio databases IDs | |
| Aliases | spermatogenesis and oogenesis specific basic helix-loop-helix 1, spermatogenesis associated 27 |
| Synonyms | bA100C15.3, bHLHe80, C9orf157, Gm110, NOHLH, ODG5, RGD1564440, SPATA27, spermatogenesis and oogenesis specific basic helix-loop-helix 1, SPGF32, TEB2 |
| 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 SOHLH1 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
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- sequence-specific DNA binding
- identical protein binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- protein homodimerization
- helix loop helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nonsyndromic primary hypogonadism
- pancreatic epithelial cancer
- familial premature ovarian failure
- ovarian dysgenesis type 5
- spermatogenic failure 32
- pancreatic carcinoma
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
- FIGLA
role in cell
- differentiation
- number
- lack
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOHLH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatogenesis
- cell differentiation
- oocyte differentiation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- protein homodimerization activity
- protein heterodimerization activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity