background:
DMRTA1 is a 504 amino acid protein that localizes to the nucleus and contains one DM DNA-binding domain. Expressed in prostate, liver, pancreas and kidney and present at lower levels in ovary and testis, DMRTA1 is thought to be involved in sexual developmental processes during maturation. The gene encoding DMRTA1 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster.
Function:
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).
Subcellular Location:
Nucleus.
Tissue Specificity:
Testis-specific.
DISEASE:
Defects in DMRT1 may be a cause of testicular germ cell tumor (TGCT) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms.
Defects in DMRT1 may be a cause of 46,XY sex reversal type 4 (SRXY4) [MIM:54230]. 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.
Similarity:
Belongs to the DMRT family.
Contains 1 DM DNA-binding domain.
Database links:
Entrez Gene: 63951 Human
Entrez Gene: 242523 Mouse
Entrez Gene: 313352 Rat
Omim: 62963 Human
SwissProt: Q5VZB9 Human
SwissProt: A2AL09 Mouse
SwissProt: Q8CFG4 Mouse
Unigene: 371976 Human
Unigene: 130167 Mouse
Unigene: 43064 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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