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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 – 18860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

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

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 PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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-3PRO_0000049026Add
BLAST

Proteomic databases

MaxQBiO60479.
PaxDbiO60479.
PRIDEiO60479.

PTM databases

PhosphoSiteiO60479.

Expressioni

Gene expression databases

BgeeiO60479.
CleanExiHS_DLX3.
ExpressionAtlasiO60479. baseline and differential.
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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG299102.
GeneTreeiENSGT00770000120486.
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

        10         20         30         40         50
MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY
60 70 80 90 100
YSGQPYGQTV NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE
110 120 130 140 150
QPLPAQDPVS VKEEPEAEVR MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK
160 170 180 190 200
AQYLALPERA ELAAQLGLTQ TQVKIWFQNR RSKFKKLYKN GEVPLEHSPN
210 220 230 240 250
NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS PSYLDDPTNS
260 270 280
WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY
Length:287
Mass (Da):31,738
Last modified:August 1, 1998 - v1
Checksum:iDCA9716E51D78DD1
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00770000120486.
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

Bgeei O60479.
CleanExi HS_DLX3.
ExpressionAtlasi O60479. baseline and differential.
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: November 26, 2014
This is version 125 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