SOHLH1: Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 1
A master regulator of germ cell development and spermatogenesis
Gene Information Card
| Symbol | SOHLH1 |
|---|---|
| Full Name | Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 402381 ncbi.nlm.nih.gov/gene/402381 |
| Ensembl ID | ENSG00000165643 |
| UniProt ID | Q5JUK3 |
| OMIM ID | 610224 |
| HGNC ID | 27843 |
| Aliases | bHLHe80, SPATA27 |
Description
SOHLH1 encodes a basic helix-loop-helix (bHLH) transcription factor that is specifically expressed in germ cells, particularly in spermatogonia and oocytes. It plays a critical role in the differentiation of spermatogonial stem cells and the maintenance of spermatogenesis. Mutations in SOHLH1 are associated with non-obstructive azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | Loss-of-function mutations impair spermatogonial differentiation, leading to absence of sperm in ejaculate | PMID: 24784881, ClinVar |
| Spermatogenic failure 32 | Homozygous or compound heterozygous mutations disrupt germ cell development | OMIM: 618115 |
| Male infertility | Defective SOHLH1 disrupts spermatogenesis, causing azoospermia or severe oligozoospermia | PMID: 24784881 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.6 | High |
| Ovary | 0.8 | Low |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatogonia | 30.0 | High expression in germ cells |
| Seminoma cell lines | 5.0 | Moderate expression |
| Embryonic stem cells | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; truncates protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Loss of function; disrupts DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing spermatogonial differentiation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein dimerization activity | • regulation of transcription by RNA polymerase II |
| • spermatogenesis | • oogenesis |
| • germ cell development |
Pathways
• Spermatogenesis
• Germ cell development
Protein Summary
SOHLH1 is a 328-amino acid basic helix-loop-helix transcription factor that localizes to the nucleus. It forms heterodimers with other bHLH proteins to regulate genes involved in spermatogonial stem cell differentiation and maintenance. The protein contains a conserved bHLH domain required for DNA binding and dimerization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOHLH1 Knockout HEK293 Cell Line | EDJ-KQ11668 | Human | 402381 | Details Get a Quote |
| SOHLH1 Knockout HeLa Cell Line | EDJ-KQ60323 | Human | 402381 | Details Get a Quote |
| SOHLH1 Knockout A-549 Cell Line | EDJ-KQ68790 | Human | 402381 | Details Get a Quote |
| SOHLH1 Knockout HCT 116 Cell Line | EDJ-KQ77153 | Human | 402381 | Details Get a Quote |
