ENSG00000137090


Homo sapiens

Features
Gene ID: ENSG00000137090
  
Biological name :DMRT1
  
Synonyms : DMRT1 / doublesex and mab-3 related transcription factor 1 / Q9Y5R6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: p24.3
Gene start: 841690
Gene end: 969090
  
Corresponding Affymetrix probe sets: 220493_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371711
Ensembl peptide - ENSP00000454701
NCBI entrez gene - 1761     See in Manteia.
OMIM - 602424
RefSeq - XM_017014375
RefSeq - NM_021951
RefSeq - XM_011517772
RefSeq - XM_011517773
RefSeq - XM_017014374
RefSeq - XM_006716732
RefSeq - XM_011517770
RefSeq - XM_011517771
RefSeq Peptide - NP_068770
swissprot - Q9Y5R6
swissprot - H3BN61
Ensembl - ENSG00000137090
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dmrt1ENSDARG00000007349Danio rerio
 DMRT1ENSGALG00000010160Gallus gallus
 Dmrt1ENSMUSG00000024837Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DMRTA2 / Q96SC8 / DMRT like family A2ENSG0000014270025
DMRTA1 / Q5VZB9 / DMRT like family A1ENSG0000017639925
DMRT2 / Q9Y5R5 / doublesex and mab-3 related transcription factor 2ENSG0000017325324
DMRT3 / Q9NQL9 / doublesex and mab-3 related transcription factor 3ENSG0000006421820
DMRTB1 / Q96MA1 / DMRT like family B with proline rich C-terminal 1ENSG0000014300617
DMRTC2 / Q8IXT2 / DMRT like family C2ENSG0000014202517
Q5HYR2 / DMRTC1B / DMRT like family C1BENSG000001849116
DMRTC1 / Q5HYR2 / DMRT like family C1ENSG000002695026


Protein motifs (from Interpro)
Interpro ID Name
 IPR001275  DM DNA-binding domain
 IPR022114  Doublesex- and mab-3-related transcription factor 1-like
 IPR026607  DMRT/protein doublesex/protein male abnormal 3
 IPR036407  DM DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0002176 male germ cell proliferation IEA
 biological_processGO:0003006 developmental process involved in reproduction IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007548 sex differentiation IEA
 biological_processGO:0008354 germ cell migration IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030238 male sex determination IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0045835 negative regulation of meiotic nuclear division IEA
 biological_processGO:0045840 positive regulation of mitotic nuclear division IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046661 male sex differentiation IEA
 biological_processGO:0048599 oocyte development IEA
 biological_processGO:0060008 Sertoli cell differentiation IEA
 biological_processGO:0060009 Sertoli cell development IEA
 biological_processGO:0060903 positive regulation of meiosis I IEA
 biological_processGO:1900107 regulation of nodal signaling pathway IEA
 biological_processGO:2000020 positive regulation of male gonad development IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000987 proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000037 Male pseudohermaphroditism "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators]
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 HP:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0000147 polycystic ovaries 
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 HP:0008715 Testicular dysgenesis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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