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O60479

- DLX3_HUMAN

UniProt

O60479 - DLX3_HUMAN

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Protein
Homeobox protein DLX-3
Gene
DLX3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi129 – 18860Homeobox
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  2. chromatin binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc
  4. transcription regulatory region sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. blood vessel development Source: Ensembl
  2. odontoblast differentiation Source: Ensembl
  3. odontogenesis of dentin-containing tooth Source: Ensembl
  4. placenta development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein DLX-3
Gene namesi
Name:DLX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:2916. DLX3.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
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.1 Publication

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

MIMi104510. phenotype.
190320. phenotype.
Orphaneti100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
3352. Tricho-dento-osseous syndrome.
PharmGKBiPA27371.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 287287Homeobox protein DLX-3
PRO_0000049026Add
BLAST

Proteomic databases

MaxQBiO60479.
PaxDbiO60479.
PRIDEiO60479.

PTM databases

PhosphoSiteiO60479.

Expressioni

Gene expression databases

ArrayExpressiO60479.
BgeeiO60479.
CleanExiHS_DLX3.
GenevestigatoriO60479.

Organism-specific databases

HPAiHPA031164.

Interactioni

Protein-protein interaction databases

BioGridi108091. 2 interactions.
IntActiO60479. 2 interactions.
STRINGi9606.ENSP00000172196.

Structurei

3D structure databases

ProteinModelPortaliO60479.
SMRiO60479. Positions 100-190.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG299102.
HOGENOMiHOG000231940.
HOVERGENiHBG005493.
InParanoidiO60479.
KOiK09315.
OMAiSWYHTQN.
OrthoDBiEOG70W3F8.
PhylomeDBiO60479.
TreeFamiTF350606.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR022135. Distal-less_N.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF12413. DLL_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O60479-1 [UniParc]FASTAAdd to Basket

« Hide

MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY    50
YSGQPYGQTV NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE 100
QPLPAQDPVS VKEEPEAEVR MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK 150
AQYLALPERA ELAAQLGLTQ TQVKIWFQNR RSKFKKLYKN GEVPLEHSPN 200
NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS PSYLDDPTNS 250
WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY 287
Length:287
Mass (Da):31,738
Last modified:August 1, 1998 - v1
Checksum:iDCA9716E51D78DD1
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS11556.1.
RefSeqiNP_005211.1. NM_005220.2.
UniGeneiHs.134194.

Genome annotation databases

EnsembliENST00000434704; ENSP00000389870; ENSG00000064195.
GeneIDi1747.
KEGGihsa:1747.
UCSCiuc002ipy.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS11556.1.
RefSeqi NP_005211.1. NM_005220.2.
UniGenei Hs.134194.

3D structure databases

ProteinModelPortali O60479.
SMRi O60479. Positions 100-190.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108091. 2 interactions.
IntActi O60479. 2 interactions.
STRINGi 9606.ENSP00000172196.

PTM databases

PhosphoSitei O60479.

Proteomic databases

MaxQBi O60479.
PaxDbi O60479.
PRIDEi O60479.

Protocols and materials databases

DNASUi 1747.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000434704 ; ENSP00000389870 ; ENSG00000064195 .
GeneIDi 1747.
KEGGi hsa:1747.
UCSCi uc002ipy.3. human.

Organism-specific databases

CTDi 1747.
GeneCardsi GC17M048067.
HGNCi HGNC:2916. DLX3.
HPAi HPA031164.
MIMi 104510. phenotype.
190320. phenotype.
600525. gene.
neXtProti NX_O60479.
Orphaneti 100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
3352. Tricho-dento-osseous syndrome.
PharmGKBi PA27371.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299102.
HOGENOMi HOG000231940.
HOVERGENi HBG005493.
InParanoidi O60479.
KOi K09315.
OMAi SWYHTQN.
OrthoDBi EOG70W3F8.
PhylomeDBi O60479.
TreeFami TF350606.

Miscellaneous databases

GeneWikii DLX3.
DLX3_(gene).
GenomeRNAii 1747.
NextBioi 7087.
PROi O60479.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60479.
Bgeei O60479.
CleanExi HS_DLX3.
Genevestigatori O60479.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR022135. Distal-less_N.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view ]
Pfami PF12413. DLL_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. 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.

Entry informationi

Entry nameiDLX3_HUMAN
AccessioniPrimary (citable) accession number: O60479
Secondary accession number(s): B3KQL6
Entry historyi
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 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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