DMRT1
entrez
1761
canonical
uniprot
Q9Y5R6
canonical
ensembl
ENSG00000137090
resolver
ensp
ENSP00000371711
resolver
ensp
ENSP00000454701
resolver
enst
ENST00000569227
resolver
genesymbol
DMRT1
resolver
genesymbol_syn
DMT1
resolver
hgnc
HGNC:2934
resolver
uniprot
B2R913
resolver
uniprot
H3BN61
resolver
uniprot
Q6T1H8
resolver
uniprot
Q6T1H9
resolver
uniprot
Q8IW77
resolver
uniprot_entry
DMRT1_HUMAN
resolver
uniprot_entry
H3BN61_HUMAN
resolver
uniprot_sec
B2R913
resolver
uniprot_sec
Q6T1H8
resolver
uniprot_sec
Q6T1H9
resolver
uniprot_sec
Q8IW77
resolver
amino_acid_sequence
MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGASDLGAGSKKSPRLPKCARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVALRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMTECSGTSQPPPASVPTTAASEGRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSLFPYYNNLYNCPQYSMALAADSASGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMENRHAMSSQYRMHSYYPPPSYLGQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKAVLECEPASEPSSFTVTPVIEEDE
uniprot
proteins
disease_involvement
DISEASE: Testicular germ cell tumor (TGCT) [MIM:273300]: 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. {ECO:0000269|PubMed:20543847}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: 46,XY sex reversal 4 (SRXY4) [MIM:154230]: 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. {ECO:0000269|PubMed:21048976, ECO:0000269|PubMed:9490411, ECO:0000269|PubMed:9718346}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
39473
uniprot
proteins
protein_family
DMRT family
uniprot
proteins
pubmed
10332030
uniprot
proteins
pubmed
10857744
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16617334
uniprot
proteins
pubmed
20543847
uniprot
proteins
pubmed
21048976
uniprot
proteins
pubmed
23436708
uniprot
proteins
pubmed
9490411
uniprot
proteins
pubmed
9718346
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
uniprot
proteins