SOHLH1

Chr 9q34.3

spermatogenesis and oogenesis specific basic helix-loop-helix 1

Aliases:: NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27
MANE:: ENST00000425225.2

OMIM: 610224 ↗NCBI: 402381 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SOHLH1 · Q5JUK2

v62025-08-01

Predicted Aligned Error matrix for SOHLH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.8/ 100

Low

328 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)9%
Low(50–70)38%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

46,XX gonadal dysgenesis
0.60
spermatogenic failure
0.60
primary ovarian failure
0.37
Premature ovarian insufficiency
0.37
neurodegenerative disease
0.32
genetic non-acquired premature ovarian failure
0.26
breast ductal adenocarcinoma
0.11
central nervous system cancer
0.09
glioma
0.07
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)