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O60479 (DLX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein DLX-3
Gene names
Name:DLX3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length287 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.

Subcellular location

Nucleus Potential.

Involvement in disease

Trichodentoosseous syndrome (TDO) [MIM:190320]: An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the distal-less homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 287287Homeobox protein DLX-3
PRO_0000049026

Regions

DNA binding129 – 18860Homeobox

Sequences

Sequence LengthMass (Da)Tools
O60479 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: DCA9716E51D78DD1

FASTA28731,738
        10         20         30         40         50         60 
MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY YSGQPYGQTV 

        70         80         90        100        110        120 
NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE QPLPAQDPVS VKEEPEAEVR 

       130        140        150        160        170        180 
MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK AQYLALPERA ELAAQLGLTQ TQVKIWFQNR 

       190        200        210        220        230        240 
RSKFKKLYKN GEVPLEHSPN NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS 

       250        260        270        280 
PSYLDDPTNS WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY 

« Hide

References

« Hide 'large scale' references
[1]"Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome."
Price J.A., Bowden D.W., Wright J.T., Pettenati M.J., Hart T.C.
Hum. Mol. Genet. 7:563-569(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN TDO.
[2]"Genomic structure and functional control of the Dlx3-7 bigene cluster."
Sumiyama K., Irvine S.Q., Stock D.W., Weiss K.M., Kawasaki K., Shimizu N., Shashikant C.S., Miller W., Ruddle F.H.
Proc. Natl. Acad. Sci. U.S.A. 99:780-785(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Foreskin.
[3]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: Eye and Placenta.
[6]"DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism."
Dong J., Amor D., Aldred M.J., Gu T., Escamilla M., MacDougall M.
Am. J. Med. Genet. A 133:138-141(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AI4.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF028233 Genomic DNA. Translation: AAC14397.1.
AF452638 Genomic DNA. Translation: AAL99504.1.
AK075167 mRNA. Translation: BAG52078.1.
CH471109 Genomic DNA. Translation: EAW94650.1.
BC012361 mRNA. Translation: AAH12361.1.
BC028970 mRNA. Translation: AAH28970.1.
CCDSCCDS11556.1.
RefSeqNP_005211.1. NM_005220.2.
UniGeneHs.134194.

3D structure databases

ProteinModelPortalO60479.
SMRO60479. Positions 100-190.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108091. 2 interactions.
IntActO60479. 2 interactions.
STRING9606.ENSP00000172196.

PTM databases

PhosphoSiteO60479.

Proteomic databases

MaxQBO60479.
PaxDbO60479.
PRIDEO60479.

Protocols and materials databases

DNASU1747.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000434704; ENSP00000389870; ENSG00000064195.
GeneID1747.
KEGGhsa:1747.
UCSCuc002ipy.3. human.

Organism-specific databases

CTD1747.
GeneCardsGC17M048067.
HGNCHGNC:2916. DLX3.
HPAHPA031164.
MIM104510. phenotype.
190320. phenotype.
600525. gene.
neXtProtNX_O60479.
Orphanet100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
3352. Tricho-dento-osseous syndrome.
PharmGKBPA27371.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG299102.
HOGENOMHOG000231940.
HOVERGENHBG005493.
InParanoidO60479.
KOK09315.
OMASWYHTQN.
OrthoDBEOG70W3F8.
PhylomeDBO60479.
TreeFamTF350606.

Gene expression databases

ArrayExpressO60479.
BgeeO60479.
CleanExHS_DLX3.
GenevestigatorO60479.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR022135. Distal-less_N.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF12413. DLL_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDLX3.
DLX3_(gene).
GenomeRNAi1747.
NextBio7087.
PROO60479.
SOURCESearch...

Entry information

Entry nameDLX3_HUMAN
AccessionPrimary (citable) accession number: O60479
Secondary accession number(s): B3KQL6
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 122 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

MIM cross-references

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

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM