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UniProtKB - Q9NQL9 (DMRT3_HUMAN)
Protein
Doublesex- and mab-3-related transcription factor 3
Gene
DMRT3
Organism
Homo sapiens (Human)
Status
Functioni
Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity).
By similarityMiscellaneous
DMRT3 is a marker for a subset of spinal cord neurons (dI6).
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 29 – 76 | DMPROSITE-ProRule annotationAdd BLAST | 48 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- adult walking behavior Source: Ensembl
- male sex differentiation Source: GO_Central
- regulation of odontogenesis of dentin-containing tooth Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- sex differentiation Source: GO_Central
- transmission of nerve impulse Source: Ensembl
- ventral spinal cord interneuron specification Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Sexual differentiation, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9NQL9 |
SignaLinki | Q9NQL9 |
Names & Taxonomyi
Protein namesi | Recommended name: Doublesex- and mab-3-related transcription factor 3 |
Gene namesi | Name:DMRT3 Synonyms:DMRTA3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13909, DMRT3 |
MIMi | 614754, gene |
neXtProti | NX_Q9NQL9 |
VEuPathDBi | HostDB:ENSG00000064218 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 58524 |
MalaCardsi | DMRT3 |
OpenTargetsi | ENSG00000064218 |
Orphaneti | 251510, 46,XY partial gonadal dysgenesis |
PharmGKBi | PA27383 |
Miscellaneous databases
Pharosi | Q9NQL9, Tbio |
Genetic variation databases
BioMutai | DMRT3 |
DMDMi | 74752905 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000277794 | 1 – 472 | Doublesex- and mab-3-related transcription factor 3Add BLAST | 472 |
Proteomic databases
MassIVEi | Q9NQL9 |
PaxDbi | Q9NQL9 |
PeptideAtlasi | Q9NQL9 |
PRIDEi | Q9NQL9 |
ProteomicsDBi | 82163 |
PTM databases
iPTMneti | Q9NQL9 |
PhosphoSitePlusi | Q9NQL9 |
Expressioni
Tissue specificityi
Expressed in testis.1 Publication
Developmental stagei
Expressed in 4 to 5 weeks embryos.1 Publication
Gene expression databases
Bgeei | ENSG00000064218, Expressed in mucosa of paranasal sinus and 87 other tissues |
ExpressionAtlasi | Q9NQL9, baseline and differential |
Genevisiblei | Q9NQL9, HS |
Organism-specific databases
HPAi | ENSG00000064218, Tissue enhanced (choroid plexus, parathyroid gland, testis) |
Interactioni
Subunit structurei
May homodimerize.
1 PublicationBinary interactionsi
Q9NQL9
Protein-protein interaction databases
BioGRIDi | 121844, 86 interactors |
IntActi | Q9NQL9, 78 interactors |
MINTi | Q9NQL9 |
STRINGi | 9606.ENSP00000190165 |
Miscellaneous databases
RNActi | Q9NQL9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 249 – 284 | DMASequence analysisAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 89 – 128 | DisorderedSequence analysisAdd BLAST | 40 | |
Regioni | 155 – 191 | DisorderedSequence analysisAdd BLAST | 37 | |
Regioni | 430 – 472 | DisorderedSequence analysisAdd BLAST | 43 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 92 – 122 | Pro residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 155 – 181 | Basic and acidic residuesSequence analysisAdd BLAST | 27 |
Domaini
DMA domain interacts with ubiquitin.1 Publication
Sequence similaritiesi
Belongs to the DMRT family.Curated
Phylogenomic databases
eggNOGi | KOG3815, Eukaryota |
GeneTreei | ENSGT00940000160420 |
HOGENOMi | CLU_052449_1_0_1 |
InParanoidi | Q9NQL9 |
OMAi | CPIVTKQ |
OrthoDBi | 897429at2759 |
PhylomeDBi | Q9NQL9 |
TreeFami | TF317837 |
Family and domain databases
Gene3Di | 4.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR001275, DM_DNA-bd IPR036407, DM_DNA-bd_sf IPR005173, DMA IPR026607, DMRT/dsx/mab-3 IPR009060, UBA-like_sf |
PANTHERi | PTHR12322, PTHR12322, 1 hit |
Pfami | View protein in Pfam PF00751, DM, 1 hit PF03474, DMA, 1 hit |
SMARTi | View protein in SMART SM00301, DM, 1 hit |
SUPFAMi | SSF46934, SSF46934, 1 hit SSF82927, SSF82927, 1 hit |
PROSITEi | View protein in PROSITE PS40000, DM_1, 1 hit PS50809, DM_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9NQL9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF
60 70 80 90 100
KDCTCEKCIL IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP
110 120 130 140 150
GDAVAAPQPP PASQPSQPQP PRPAAELAAA AALRWTAEPQ PGALQAQLAK
160 170 180 190 200
PDLTEERLGD GKSADNTEVF SDKDTDQRSS PDVAKSKGCF TPESPEIVSV
210 220 230 240 250
EEGGYAVQKN GGNPESRPDS PKCHAEQNHL LIEGPSGTVS LPFSLKANRP
260 270 280 290 300
PLEVLKKIFP NQKPTVLELI LKGCGGDLVS AVEVLLSSRS SVTGAERTSA
310 320 330 340 350
EPESLALPSN GHIFEHTLSS YPISSSKWSV GSAFRVPDTL RFSADSSNVV
360 370 380 390 400
PSPLAGPLQP PFPQPPRYPL MLRNTLARSQ SSPFLPNDVT LWNTMTLQQQ
410 420 430 440 450
YQLRSQYVSP FPSNSTSVFR SSPVLPARAT EDPRISIPDD GCPFVSKQSI
460 470
YTEDDYDERS DSSDSRTLNT SS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ5W0Z5 | Q5W0Z5_HUMAN | Doublesex- and mab-3-related transc... | DMRT3 | 112 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030591 | 164 | A → T. Corresponds to variant dbSNP:rs10978001Ensembl. | 1 | |
Natural variantiVAR_030592 | 261 | N → T. Corresponds to variant dbSNP:rs7854621EnsemblClinVar. | 1 | |
Natural variantiVAR_030593 | 356 | G → V. Corresponds to variant dbSNP:rs16927037Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136365 Genomic DNA No translation available. BC113584 mRNA Translation: AAI13585.1 BC117245 mRNA Translation: AAI17246.1 AJ301581 mRNA Translation: CAC37947.1 AF193873 mRNA Translation: AAF78892.1 |
CCDSi | CCDS6443.1 |
RefSeqi | NP_067063.1, NM_021240.3 |
Genome annotation databases
Ensembli | ENST00000190165; ENSP00000190165; ENSG00000064218 |
GeneIDi | 58524 |
KEGGi | hsa:58524 |
MANE-Selecti | ENST00000190165.3; ENSP00000190165.2; NM_021240.4; NP_067063.1 |
UCSCi | uc003zgw.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight A gait on the wildside - Issue 154 of November 2013 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136365 Genomic DNA No translation available. BC113584 mRNA Translation: AAI13585.1 BC117245 mRNA Translation: AAI17246.1 AJ301581 mRNA Translation: CAC37947.1 AF193873 mRNA Translation: AAF78892.1 |
CCDSi | CCDS6443.1 |
RefSeqi | NP_067063.1, NM_021240.3 |
3D structure databases
SMRi | Q9NQL9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121844, 86 interactors |
IntActi | Q9NQL9, 78 interactors |
MINTi | Q9NQL9 |
STRINGi | 9606.ENSP00000190165 |
PTM databases
iPTMneti | Q9NQL9 |
PhosphoSitePlusi | Q9NQL9 |
Genetic variation databases
BioMutai | DMRT3 |
DMDMi | 74752905 |
Proteomic databases
MassIVEi | Q9NQL9 |
PaxDbi | Q9NQL9 |
PeptideAtlasi | Q9NQL9 |
PRIDEi | Q9NQL9 |
ProteomicsDBi | 82163 |
Protocols and materials databases
Antibodypediai | 23783, 163 antibodies from 23 providers |
DNASUi | 58524 |
Genome annotation databases
Ensembli | ENST00000190165; ENSP00000190165; ENSG00000064218 |
GeneIDi | 58524 |
KEGGi | hsa:58524 |
MANE-Selecti | ENST00000190165.3; ENSP00000190165.2; NM_021240.4; NP_067063.1 |
UCSCi | uc003zgw.3, human |
Organism-specific databases
CTDi | 58524 |
DisGeNETi | 58524 |
GeneCardsi | DMRT3 |
HGNCi | HGNC:13909, DMRT3 |
HPAi | ENSG00000064218, Tissue enhanced (choroid plexus, parathyroid gland, testis) |
MalaCardsi | DMRT3 |
MIMi | 614754, gene |
neXtProti | NX_Q9NQL9 |
OpenTargetsi | ENSG00000064218 |
Orphaneti | 251510, 46,XY partial gonadal dysgenesis |
PharmGKBi | PA27383 |
VEuPathDBi | HostDB:ENSG00000064218 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3815, Eukaryota |
GeneTreei | ENSGT00940000160420 |
HOGENOMi | CLU_052449_1_0_1 |
InParanoidi | Q9NQL9 |
OMAi | CPIVTKQ |
OrthoDBi | 897429at2759 |
PhylomeDBi | Q9NQL9 |
TreeFami | TF317837 |
Enzyme and pathway databases
PathwayCommonsi | Q9NQL9 |
SignaLinki | Q9NQL9 |
Miscellaneous databases
BioGRID-ORCSi | 58524, 5 hits in 1054 CRISPR screens |
ChiTaRSi | DMRT3, human |
GenomeRNAii | 58524 |
Pharosi | Q9NQL9, Tbio |
PROi | PR:Q9NQL9 |
RNActi | Q9NQL9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000064218, Expressed in mucosa of paranasal sinus and 87 other tissues |
ExpressionAtlasi | Q9NQL9, baseline and differential |
Genevisiblei | Q9NQL9, HS |
Family and domain databases
Gene3Di | 4.10.1040.10, 1 hit |
InterProi | View protein in InterPro IPR001275, DM_DNA-bd IPR036407, DM_DNA-bd_sf IPR005173, DMA IPR026607, DMRT/dsx/mab-3 IPR009060, UBA-like_sf |
PANTHERi | PTHR12322, PTHR12322, 1 hit |
Pfami | View protein in Pfam PF00751, DM, 1 hit PF03474, DMA, 1 hit |
SMARTi | View protein in SMART SM00301, DM, 1 hit |
SUPFAMi | SSF46934, SSF46934, 1 hit SSF82927, SSF82927, 1 hit |
PROSITEi | View protein in PROSITE PS40000, DM_1, 1 hit PS50809, DM_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DMRT3_HUMAN | |
Accessioni | Q9NQL9Primary (citable) accession number: Q9NQL9 Secondary accession number(s): Q7LA03 Q9NRQ9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 20, 2007 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 148 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries