Details for: DMRT1

Gene ID: 1761

Symbol: DMRT1

Ensembl ID: ENSG00000137090

Description: doublesex and mab-3 related transcription factor 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 9.0265
    Cell Significance Index: 54.0900
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.8991
    Cell Significance Index: 21.8900
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.8884
    Cell Significance Index: 21.1100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3977
    Cell Significance Index: 33.8600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.0686
    Cell Significance Index: 11.4900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.8149
    Cell Significance Index: 11.4300
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.8130
    Cell Significance Index: 3.7600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.4661
    Cell Significance Index: -1.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3575
    Cell Significance Index: 9.4000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2177
    Cell Significance Index: 3.7300
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.1428
    Cell Significance Index: 1.6800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.1375
    Cell Significance Index: 1.7400
  • Cell Name: obsolete somatic cell (CL0002371)
    Fold Change: 0.0825
    Cell Significance Index: 0.6300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0823
    Cell Significance Index: 1.2500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0773
    Cell Significance Index: 1.3000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0758
    Cell Significance Index: 1.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0676
    Cell Significance Index: 1.7400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0595
    Cell Significance Index: 1.6000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0372
    Cell Significance Index: 1.0000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0352
    Cell Significance Index: 0.4800
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.0348
    Cell Significance Index: 0.3600
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.0330
    Cell Significance Index: 0.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0146
    Cell Significance Index: 2.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0145
    Cell Significance Index: 2.9000
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.0145
    Cell Significance Index: 0.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0098
    Cell Significance Index: 2.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0072
    Cell Significance Index: 1.0500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0057
    Cell Significance Index: 3.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0050
    Cell Significance Index: 0.1400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0046
    Cell Significance Index: 1.6400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0021
    Cell Significance Index: 3.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0019
    Cell Significance Index: 3.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0016
    Cell Significance Index: 2.8900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0014
    Cell Significance Index: 0.2400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0012
    Cell Significance Index: 1.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0014
    Cell Significance Index: -0.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0016
    Cell Significance Index: -0.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0025
    Cell Significance Index: -1.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0026
    Cell Significance Index: -1.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0026
    Cell Significance Index: -1.8900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0032
    Cell Significance Index: -1.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0050
    Cell Significance Index: -0.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0059
    Cell Significance Index: -0.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0077
    Cell Significance Index: -0.1500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0092
    Cell Significance Index: -1.9400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0107
    Cell Significance Index: -1.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0117
    Cell Significance Index: -1.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0124
    Cell Significance Index: -0.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0130
    Cell Significance Index: -1.3500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0156
    Cell Significance Index: -0.2300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0168
    Cell Significance Index: -1.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0173
    Cell Significance Index: -1.1600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0176
    Cell Significance Index: -0.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0179
    Cell Significance Index: -0.7900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0187
    Cell Significance Index: -0.5900
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0216
    Cell Significance Index: -0.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0224
    Cell Significance Index: -0.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0249
    Cell Significance Index: -1.4000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0254
    Cell Significance Index: -0.8100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0261
    Cell Significance Index: -0.3800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0289
    Cell Significance Index: -0.4200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0290
    Cell Significance Index: -1.7800
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0298
    Cell Significance Index: -0.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0305
    Cell Significance Index: -1.0700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0311
    Cell Significance Index: -0.6600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0312
    Cell Significance Index: -1.0200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0340
    Cell Significance Index: -1.6000
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0348
    Cell Significance Index: -0.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0353
    Cell Significance Index: -1.6500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0356
    Cell Significance Index: -0.6000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0365
    Cell Significance Index: -1.6600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0370
    Cell Significance Index: -0.5200
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0383
    Cell Significance Index: -0.6200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0383
    Cell Significance Index: -0.5100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0393
    Cell Significance Index: -0.9800
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0395
    Cell Significance Index: -0.4300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0400
    Cell Significance Index: -0.5600
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0411
    Cell Significance Index: -0.3900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0417
    Cell Significance Index: -0.9000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0430
    Cell Significance Index: -0.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0448
    Cell Significance Index: -1.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0452
    Cell Significance Index: -1.5900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0458
    Cell Significance Index: -1.6800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0474
    Cell Significance Index: -0.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0492
    Cell Significance Index: -1.5800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0503
    Cell Significance Index: -1.0100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0515
    Cell Significance Index: -0.7600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0521
    Cell Significance Index: -1.0900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0539
    Cell Significance Index: -0.6800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0547
    Cell Significance Index: -1.5600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0548
    Cell Significance Index: -0.3700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0551
    Cell Significance Index: -1.1500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0559
    Cell Significance Index: -0.5300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0577
    Cell Significance Index: -0.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0599
    Cell Significance Index: -1.6000
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0608
    Cell Significance Index: -0.8200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0609
    Cell Significance Index: -0.7100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0619
    Cell Significance Index: -1.2600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0619
    Cell Significance Index: -1.5100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** DMRT1 is a member of the DMRT (Doublesex and Mab-3 related transcription) family of transcription factors, which are known for their involvement in sex determination and germ cell development. The DMRT1 protein is a transcriptional regulator that binds to specific DNA sequences, influencing the expression of target genes involved in reproductive development. Notably, DMRT1 is highly expressed in male germ cells and plays a crucial role in the regulation of male sex determination. **Pathways and Functions** DMRT1 is involved in several key pathways, including: 1. **Sex Determination**: DMRT1 is essential for the regulation of sex determination, particularly in male sex differentiation. It influences the expression of genes involved in the development of male reproductive organs, such as the testes and epididymis. 2. **Germ Cell Development**: DMRT1 is critical for the development and maturation of male germ cells, including spermatogenesis. 3. **Transcriptional Regulation**: DMRT1 acts as a transcriptional regulator, influencing the expression of target genes involved in reproductive development and immune function. 4. **Immune Surveillance**: DMRT1 is expressed in conventional dendritic cells, which are key players in immune surveillance, highlighting the gene's role in immune regulation. **Clinical Significance** The DMRT1 gene has significant implications for reproductive health and immune function. Abnormalities in DMRT1 expression have been linked to various reproductive disorders, including: 1. **Infertility**: Mutations in DMRT1 have been associated with infertility in males, highlighting the gene's critical role in spermatogenesis. 2. **Sex Reversal**: DMRT1 is involved in the regulation of sex determination, and abnormalities in the gene have been linked to sex reversal disorders. 3. **Immune Dysregulation**: DMRT1's role in immune surveillance suggests that dysregulation of the gene may contribute to immune-related disorders, such as autoimmune diseases. In conclusion, DMRT1 is a critical gene involved in the regulation of sex determination, germ cell development, and immune function. Its dysregulation has significant implications for reproductive health and immune function, highlighting the need for further research into the gene's role in these processes.

Genular Protein ID: 1813019202

Symbol: DMRT1_HUMAN

Name: Doublesex- and mab-3-related transcription factor 1

UniProtKB Accession Codes:

Q9Y5R6 B2R913 Q6T1H8 Q6T1H9 Q8IW77

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10332030

Title: A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

PubMed ID: 10332030

DOI: 10.1093/hmg/8.6.989

PubMed ID: 10857744

Title: A new submicroscopic deletion that refines the 9p region for sex reversal.

PubMed ID: 10857744

DOI: 10.1006/geno.2000.6160

PubMed ID: 16617334

Title: Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis.

PubMed ID: 16617334

DOI: 10.1038/sj.cr.7310050

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9718346

Title: A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.

PubMed ID: 9718346

DOI: 10.1086/302016

PubMed ID: 9490411

Title: Evidence for evolutionary conservation of sex-determining genes.

PubMed ID: 9490411

DOI: 10.1038/35618

PubMed ID: 20543847

Title: Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

PubMed ID: 20543847

DOI: 10.1038/ng.607

PubMed ID: 21048976

Title: Identification of de novo copy number variants associated with human disorders of sexual development.

PubMed ID: 21048976

DOI: 10.1371/journal.pone.0015392

PubMed ID: 23436708

Title: Scanning of novel cancer/testis proteins by human testis proteomic analysis.

PubMed ID: 23436708

DOI: 10.1002/pmic.201200489

Sequence Information:

  • Length: 373
  • Mass: 39473
  • Checksum: 23348B2C4A4733A1
  • Sequence:
    • MPNDEAFSKP STPSEAPHAP GVPPQGRAGG FGKASGALVG AASGSSAGGS SRGGGSGSGA 
SDLGAGSKKS PRLPKCARCR NHGYASPLKG HKRFCMWRDC QCKKCNLIAE RQRVMAAQVA 
LRRQQAQEEE LGISHPIPLP SAAELLVKRE NNGSNPCLMT ECSGTSQPPP ASVPTTAASE 
GRMVIQDIPA VTSRGHVENT PDLVSDSTYY SSFYQPSLFP YYNNLYNCPQ YSMALAADSA 
SGEVGNPLGG SPVKNSLRGL PGPYVPGQTG NQWQMKNMEN RHAMSSQYRM HSYYPPPSYL 
GQSVPQFFTF EDAPSYPEAR ASVFSPPSSQ DSGLVSLSSS SPISNKSTKA VLECEPASEP 
SSFTVTPVIE EDE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.