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Protein

Doublesex- and mab-3-related transcription factor 3

Gene

DMRT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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 similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi29 – 7648DMPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. core promoter proximal region sequence-specific DNA binding Source: GO_Central
  2. metal ion binding Source: UniProtKB-KW
  3. protein heterodimerization activity Source: GO_Central
  4. protein homodimerization activity Source: GO_Central
  5. sequence-specific DNA binding transcription factor activity Source: GO_Central

GO - Biological processi

  1. adult walking behavior Source: GO_Central
  2. male sex differentiation Source: Ensembl
  3. regulation of odontogenesis of dentin-containing tooth Source: GO_Central
  4. sex differentiation Source: UniProtKB
  5. transcription, DNA-templated Source: UniProtKB-KW
  6. transmission of nerve impulse Source: Ensembl
  7. ventral spinal cord interneuron specification Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Sexual differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Doublesex- and mab-3-related transcription factor 3
Gene namesi
Name:DMRT3
Synonyms:DMRTA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:13909. DMRT3.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27383.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 472472Doublesex- and mab-3-related transcription factor 3PRO_0000277794Add
BLAST

Proteomic databases

PaxDbiQ9NQL9.
PeptideAtlasiQ9NQL9.
PRIDEiQ9NQL9.

PTM databases

PhosphoSiteiQ9NQL9.

Expressioni

Tissue specificityi

Expressed in testis.1 Publication

Developmental stagei

Expressed in 4 to 5 weeks embryos.1 Publication

Gene expression databases

BgeeiQ9NQL9.
CleanExiHS_DMRT3.
ExpressionAtlasiQ9NQL9. baseline and differential.
GenevestigatoriQ9NQL9.

Organism-specific databases

HPAiHPA049099.

Interactioni

Protein-protein interaction databases

BioGridi121844. 26 interactions.
IntActiQ9NQL9. 1 interaction.
STRINGi9606.ENSP00000190165.

Structurei

3D structure databases

ProteinModelPortaliQ9NQL9.
SMRiQ9NQL9. Positions 16-71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DMRT family.Curated
Contains 1 DM DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG245377.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000112230.
HOVERGENiHBG080568.
InParanoidiQ9NQL9.
OMAiQPIYTED.
OrthoDBiEOG7TXKGH.
PhylomeDBiQ9NQL9.
TreeFamiTF317837.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NQL9-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:472
Mass (Da):51,199
Last modified:September 30, 2000 - v1
Checksum:iBD76C5BE0B100A50
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti164 – 1641A → T.
Corresponds to variant rs10978001 [ dbSNP | Ensembl ].
VAR_030591
Natural varianti261 – 2611N → T.
Corresponds to variant rs7854621 [ dbSNP | Ensembl ].
VAR_030592
Natural varianti356 – 3561G → V.
Corresponds to variant rs16927037 [ dbSNP | Ensembl ].
VAR_030593

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136365 Genomic DNA. Translation: CAB99336.1.
BC113584 mRNA. Translation: AAI13585.1.
BC117245 mRNA. Translation: AAI17246.1.
AJ301581 mRNA. Translation: CAC37947.1.
AF193873 mRNA. Translation: AAF78892.1.
CCDSiCCDS6443.1.
RefSeqiNP_067063.1. NM_021240.3.
UniGeneiHs.189174.
Hs.672740.
Hs.744394.

Genome annotation databases

EnsembliENST00000190165; ENSP00000190165; ENSG00000064218.
GeneIDi58524.
KEGGihsa:58524.
UCSCiuc003zgw.2. human.

Polymorphism databases

DMDMi74752905.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAB99336.1.
BC113584 mRNA. Translation: AAI13585.1.
BC117245 mRNA. Translation: AAI17246.1.
AJ301581 mRNA. Translation: CAC37947.1.
AF193873 mRNA. Translation: AAF78892.1.
CCDSiCCDS6443.1.
RefSeqiNP_067063.1. NM_021240.3.
UniGeneiHs.189174.
Hs.672740.
Hs.744394.

3D structure databases

ProteinModelPortaliQ9NQL9.
SMRiQ9NQL9. Positions 16-71.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121844. 26 interactions.
IntActiQ9NQL9. 1 interaction.
STRINGi9606.ENSP00000190165.

PTM databases

PhosphoSiteiQ9NQL9.

Polymorphism databases

DMDMi74752905.

Proteomic databases

PaxDbiQ9NQL9.
PeptideAtlasiQ9NQL9.
PRIDEiQ9NQL9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000190165; ENSP00000190165; ENSG00000064218.
GeneIDi58524.
KEGGihsa:58524.
UCSCiuc003zgw.2. human.

Organism-specific databases

CTDi58524.
GeneCardsiGC09P000976.
HGNCiHGNC:13909. DMRT3.
HPAiHPA049099.
MIMi614754. gene.
neXtProtiNX_Q9NQL9.
PharmGKBiPA27383.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG245377.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000112230.
HOVERGENiHBG080568.
InParanoidiQ9NQL9.
OMAiQPIYTED.
OrthoDBiEOG7TXKGH.
PhylomeDBiQ9NQL9.
TreeFamiTF317837.

Miscellaneous databases

GenomeRNAii58524.
NextBioi65070.
PROiQ9NQL9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NQL9.
CleanExiHS_DMRT3.
ExpressionAtlasiQ9NQL9. baseline and differential.
GenevestigatoriQ9NQL9.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  3. "Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination."
    Ottolenghi C., Fellous M., Barbieri M., McElreavey K.
    Genomics 79:333-343(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 46-169.
    Tissue: Testis.
  4. "The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain."
    Ottolenghi C., Veitia R., Quintana-Murci L., Torchard D., Scapoli L., Souleyreau-Therville N., Beckmann J., Fellous M., McElreavey K.
    Genomics 64:170-178(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-472, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiDMRT3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQL9
Secondary accession number(s): Q7LA03
, Q7LCH8, Q96SC7, Q9NRQ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 19, 2007
Last sequence update: September 30, 2000
Last modified: February 3, 2015
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Miscellaneous

DMRT3 is a marker for a subset of spinal cord neurons (dI6).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.