DMRT1 (doublesex and mab-3 related transcription factor 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1761
Gene name Gene Name - the full gene name approved by the HGNC.
Doublesex and mab-3 related transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DMRT1
Synonyms (NCBI Gene) Gene synonyms aliases
CT154, DMT1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 reg
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs140506267 A>G Likely-pathogenic, likely-benign Coding sequence variant, missense variant, intron variant
rs1057519638 G>T Likely-pathogenic Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT939196 hsa-miR-4735-5p CLIP-seq
MIRT939197 hsa-miR-548a-5p CLIP-seq
MIRT939198 hsa-miR-548ab CLIP-seq
MIRT939199 hsa-miR-548ak CLIP-seq
MIRT939200 hsa-miR-548b-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
EGR1 Unknown 11870074
SP1 Unknown 11870074
SP3 Unknown 11870074
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000902 Process Cell morphogenesis IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602424 2934 ENSG00000137090
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y5R6
Protein name Doublesex- and mab-3-related transcription factor 1 (DM domain expressed in testis protein 1)
Protein 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 spermato
PDB 4YJ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00751 DM 72 → 118 DM DNA binding domain Family
PF12374 Dmrt1 130 → 202 Double-sex mab3 related transcription factor 1 Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. Expressed in prostate cancer (at protein level). {ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:23436708}.
Sequence 
MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGA
SDLGAGSKKSPRLPKCARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVA
LRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMTECSGTSQPPPASVPTTAASE
GRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSLFPYYNNLYNCPQYSMALAADSA
SGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMENRHAMSSQYRMHSYYPPPSYL
GQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKAVLECEPASEP
SSFTVTPVIEEDE
Sequence length 373
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
46, xy sex reversal 46,XY Sex Reversal 4 rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969
View all (54 more)
Neoplasm Neoplasms, Germ Cell and Embryonal, Neoplasms, Embryonal and Mixed rs137854562, rs137854565, rs137854568, rs137854574, rs121434220, rs121909218, rs121909222, rs587776667, rs606231169, rs587776701, rs121913388, rs137852578, rs137852216, rs121912651, rs28934575
View all (247 more)		 20543847
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
46, XY disorder of sex development 46,XY disorder of sex development GenCC
Uterine Fibroids Uterine Fibroids GWAS
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWAS
Mental Depression Mental Depression GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining
Disease Name Relationship Type References
46 XX Disorders of Sex Development Associate 38003010
Anemia Associate 29023457
Anemia Iron Deficiency Associate 29023457
Anxiety Associate 36764568
Atrophy Associate 29023457
Azoospermia Associate 23555275, 26139570, 31479588, 35366911, 36572623
Azoospermia Nonobstructive Associate 27496608
Celiac Disease Associate 29023457
Colorectal Neoplasms Associate 34108518
Cystic Fibrosis Associate 23176785