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Q9NQL9 (DMRT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Doublesex- and mab-3-related transcription factor 3
Gene names
Name:DMRT3
Synonyms:DMRTA3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length472 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Tissue specificity

Expressed in testis. Ref.4

Developmental stage

Expressed in 4 to 5 weeks embryos. Ref.4

Miscellaneous

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

Sequence similarities

Belongs to the DMRT family.

Contains 1 DM DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 472472Doublesex- and mab-3-related transcription factor 3
PRO_0000277794

Regions

DNA binding29 – 7648DM

Natural variations

Natural variant1641A → T.
Corresponds to variant rs10978001 [ dbSNP | Ensembl ].
VAR_030591
Natural variant2611N → T.
Corresponds to variant rs7854621 [ dbSNP | Ensembl ].
VAR_030592
Natural variant3561G → V.
Corresponds to variant rs16927037 [ dbSNP | Ensembl ].
VAR_030593

Sequences

Sequence LengthMass (Da)Tools
Q9NQL9 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: BD76C5BE0B100A50

FASTA47251,199
        10         20         30         40         50         60 
MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF KDCTCEKCIL 

        70         80         90        100        110        120 
IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP GDAVAAPQPP PASQPSQPQP 

       130        140        150        160        170        180 
PRPAAELAAA AALRWTAEPQ PGALQAQLAK PDLTEERLGD GKSADNTEVF SDKDTDQRSS 

       190        200        210        220        230        240 
PDVAKSKGCF TPESPEIVSV EEGGYAVQKN GGNPESRPDS PKCHAEQNHL LIEGPSGTVS 

       250        260        270        280        290        300 
LPFSLKANRP PLEVLKKIFP NQKPTVLELI LKGCGGDLVS AVEVLLSSRS SVTGAERTSA 

       310        320        330        340        350        360 
EPESLALPSN GHIFEHTLSS YPISSSKWSV GSAFRVPDTL RFSADSSNVV PSPLAGPLQP 

       370        380        390        400        410        420 
PFPQPPRYPL MLRNTLARSQ SSPFLPNDVT LWNTMTLQQQ YQLRSQYVSP FPSNSTSVFR 

       430        440        450        460        470 
SSPVLPARAT EDPRISIPDD GCPFVSKQSI YTEDDYDERS DSSDSRTLNT SS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Web resources

Protein Spotlight

A gait on the wildside - Issue 154 of November 2013

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_067063.1. NM_021240.3.
UniGeneHs.189174.
Hs.672740.
Hs.744394.

3D structure databases

ProteinModelPortalQ9NQL9.
SMRQ9NQL9. Positions 16-71.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000190165.

PTM databases

PhosphoSiteQ9NQL9.

Polymorphism databases

DMDM74752905.

Proteomic databases

PaxDbQ9NQL9.
PeptideAtlasQ9NQL9.
PRIDEQ9NQL9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000190165; ENSP00000190165; ENSG00000064218.
GeneID58524.
KEGGhsa:58524.
UCSCuc003zgw.2. human.

Organism-specific databases

CTD58524.
GeneCardsGC09P000976.
HGNCHGNC:13909. DMRT3.
HPAHPA049099.
MIM614754. gene.
neXtProtNX_Q9NQL9.
PharmGKBPA27383.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245377.
HOGENOMHOG000112230.
HOVERGENHBG080568.
InParanoidQ9NQL9.
OMASKSCFTP.
OrthoDBEOG7TXKGH.
PhylomeDBQ9NQL9.
TreeFamTF317837.

Gene expression databases

ArrayExpressQ9NQL9.
BgeeQ9NQL9.
CleanExHS_DMRT3.
GenevestigatorQ9NQL9.

Family and domain databases

Gene3D4.10.1040.10. 1 hit.
InterProIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERPTHR12322. PTHR12322. 1 hit.
PfamPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTSM00301. DM. 1 hit.
[Graphical view]
SUPFAMSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi58524.
NextBio65070.
PROQ9NQL9.
SOURCESearch...

Entry information

Entry nameDMRT3_HUMAN
AccessionPrimary (citable) accession number: Q9NQL9
Secondary accession number(s): Q7LA03 expand/collapse secondary AC list , Q7LCH8, Q96SC7, Q9NRQ9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: October 1, 2000
Last modified: March 19, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM