DMRT1

Chr 9p24.3

doublesex and mab-3 related transcription factor 1

Aliases:: DMT1, CT154
MANE:: ENST00000382276.8

OMIM: 602424 ↗NCBI: 1761 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DMRT1 · Q9Y5R6

v62025-08-01

Predicted Aligned Error matrix for DMRT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.9/ 100

Low

373 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)2%
Low(50–70)35%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.53
testicular cancer
0.48
uterine corpus leiomyoma
0.47
testicular germ cell tumor
0.44
Uterine leiomyoma
0.41
spermatogenic failure
0.37
male infertility
0.37
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.36
testicular non-seminomatous germ cell tumor
0.32
testicular neoplasm
0.32

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

Protein function (UniProt)

Doublesex- and mab-3-related transcription factor 1

Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity)