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Q9NQL9

- DMRT3_HUMAN

UniProt

Q9NQL9 - DMRT3_HUMAN

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Protein

Doublesex- and mab-3-related transcription factor 3

Gene
DMRT3, DMRTA3
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi29 – 7648DMAdd
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. adult walking behavior Source: Ensembl
  2. male sex differentiation Source: Ensembl
  3. regulation of odontogenesis of dentin-containing tooth Source: Ensembl
  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: Ensembl
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: Chromosome 9

Organism-specific databases

HGNCiHGNC:13909. DMRT3.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
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

ArrayExpressiQ9NQL9.
BgeeiQ9NQL9.
CleanExiHS_DMRT3.
GenevestigatoriQ9NQL9.

Organism-specific databases

HPAiHPA049099.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000190165.

Structurei

3D structure databases

ProteinModelPortaliQ9NQL9.
SMRiQ9NQL9. Positions 16-71.

Family & Domainsi

Sequence similaritiesi

Belongs to the DMRT family.

Phylogenomic databases

eggNOGiNOG245377.
HOGENOMiHOG000112230.
HOVERGENiHBG080568.
InParanoidiQ9NQL9.
OMAiSKSCFTP.
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

MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF    50
KDCTCEKCIL IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP 100
GDAVAAPQPP PASQPSQPQP PRPAAELAAA AALRWTAEPQ PGALQAQLAK 150
PDLTEERLGD GKSADNTEVF SDKDTDQRSS PDVAKSKGCF TPESPEIVSV 200
EEGGYAVQKN GGNPESRPDS PKCHAEQNHL LIEGPSGTVS LPFSLKANRP 250
PLEVLKKIFP NQKPTVLELI LKGCGGDLVS AVEVLLSSRS SVTGAERTSA 300
EPESLALPSN GHIFEHTLSS YPISSSKWSV GSAFRVPDTL RFSADSSNVV 350
PSPLAGPLQP PFPQPPRYPL MLRNTLARSQ SSPFLPNDVT LWNTMTLQQQ 400
YQLRSQYVSP FPSNSTSVFR SSPVLPARAT EDPRISIPDD GCPFVSKQSI 450
YTEDDYDERS DSSDSRTLNT SS 472
Length:472
Mass (Da):51,199
Last modified:October 1, 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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6443.1.
RefSeqi NP_067063.1. NM_021240.3.
UniGenei Hs.189174.
Hs.672740.
Hs.744394.

3D structure databases

ProteinModelPortali Q9NQL9.
SMRi Q9NQL9. Positions 16-71.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000190165.

PTM databases

PhosphoSitei Q9NQL9.

Polymorphism databases

DMDMi 74752905.

Proteomic databases

PaxDbi Q9NQL9.
PeptideAtlasi Q9NQL9.
PRIDEi Q9NQL9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000190165 ; ENSP00000190165 ; ENSG00000064218 .
GeneIDi 58524.
KEGGi hsa:58524.
UCSCi uc003zgw.2. human.

Organism-specific databases

CTDi 58524.
GeneCardsi GC09P000976.
HGNCi HGNC:13909. DMRT3.
HPAi HPA049099.
MIMi 614754. gene.
neXtProti NX_Q9NQL9.
PharmGKBi PA27383.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245377.
HOGENOMi HOG000112230.
HOVERGENi HBG080568.
InParanoidi Q9NQL9.
OMAi SKSCFTP.
OrthoDBi EOG7TXKGH.
PhylomeDBi Q9NQL9.
TreeFami TF317837.

Miscellaneous databases

GenomeRNAii 58524.
NextBioi 65070.
PROi Q9NQL9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NQL9.
Bgeei Q9NQL9.
CleanExi HS_DMRT3.
Genevestigatori Q9NQL9.

Family and domain databases

Gene3Di 4.10.1040.10. 1 hit.
InterProi IPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view ]
PANTHERi PTHR12322. PTHR12322. 1 hit.
Pfami PF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view ]
SMARTi SM00301. DM. 1 hit.
[Graphical view ]
SUPFAMi SSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEi PS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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(2004) [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(2004) [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(2002) [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(2000) [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 20, 2007
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 94 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

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