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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 1761
Gene name Doublesex and mab-3 related transcription factor 1
Gene symbol DMRT1
Synonyms (NCBI Gene)
CT154DMT1
Chromosome 9
Chromosome location 9p24.3
Summary 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.
2
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.
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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 Transcription factors information provided by TRRUST V2 database.
3
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (54)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000902 Process Cell morphogenesis IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602424 2934 ENSG00000137090
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XY sex reversal 4 Likely pathogenic rs1057519638 RCV000445388
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation Likely pathogenic rs2541006365, rs767829750, rs1410631980 RCV003991604
RCV003991605
RCV003991606
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia Likely pathogenic rs2132532372 RCV001648516
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (17)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
46,XX DISORDER OF SEX DEVELOPMENT — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
46,XY DISORDER OF SEX DEVELOPMENT — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46,XY complete gonadal dysgenesis 46, XY complete gonadal dysgenesis Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
46,XY Sex Reversal 4 46, XY Sex Reversal CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 24894955
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 22371024
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 11005792, 16085548, 17510944, 21871825, 26572590, 29023457
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 29023457 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Iron Deficiency Iron deficiency anemia Pubtator 29023457 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hypochromic Microcytic, With Iron Overload Anemia BEFREE 16160008, 16584902, 21871825
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 36764568 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29084567
★★★★★
★☆☆☆☆
Found in Text Mining only