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Q9NQL9

- DMRT3_HUMAN

UniProt

Q9NQL9 - DMRT3_HUMAN

Protein

Doublesex- and mab-3-related transcription factor 3

Gene

DMRT3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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. 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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    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

    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: October 1, 2014
    This is version 95 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