DMRT1

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq]

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).

Cell morphogenesis Source: Ensembl
Germ cell development Source: GO_Central
Germ cell migration Source: Ensembl
Intracellular signal transduction Source: Ensembl
Male germ cell proliferation Source: UniProtKB
Male sex determination Source: UniProtKB
Male sex differentiation Source: UniProtKB
Negative regulation of meiotic nuclear division Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Oocyte development Source: Ensembl
Positive regulation of male gonad development Source: Ensembl
Positive regulation of meiosis I Source: Ensembl
Positive regulation of mitotic nuclear division Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of nodal signaling pathway Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Sertoli cell development Source: Ensembl
Sertoli cell differentiation Source: UniProtKB
Sex differentiation Source: GO_Central
Spermatogenesis Source: Ensembl

Nucleus

Testicular germ cell tumor (TGCT):
A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
46,XY sex reversal 4 (SRXY4):
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion.