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Protein

Homeobox protein DLX-3

Gene

DLX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Trichodentoosseous syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.

See also OMIM:190320
Amelogenesis imperfecta 41 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

See also OMIM:104510

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.
GeneTreeiENSGT00780000121835.
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.
CCDSiCCDS11556.1.
RefSeqiNP_005211.1. NM_005220.2.
UniGeneiHs.134194.

3D structure databases

ProteinModelPortaliO60479.
SMRiO60479. Positions 100-190.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiO60479.

Proteomic databases

MaxQBiO60479.
PaxDbiO60479.
PRIDEiO60479.

Protocols and materials databases

DNASUi1747.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1747.
GeneCardsiGC17M048067.
HGNCiHGNC:2916. DLX3.
HPAiHPA031164.
MIMi104510. phenotype.
190320. phenotype.
600525. gene.
neXtProtiNX_O60479.
Orphaneti100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
3352. Tricho-dento-osseous syndrome.
PharmGKBiPA27371.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG299102.
GeneTreeiENSGT00780000121835.
HOGENOMiHOG000231940.
HOVERGENiHBG005493.
InParanoidiO60479.
KOiK09315.
OMAiSWYHTQN.
OrthoDBiEOG70W3F8.
PhylomeDBiO60479.
TreeFamiTF350606.

Miscellaneous databases

GeneWikiiDLX3.
DLX3_(gene).
GenomeRNAii1747.
NextBioi7087.
PROiO60479.
SOURCEiSearch...

Gene expression databases

BgeeiO60479.
CleanExiHS_DLX3.
ExpressionAtlasiO60479. baseline and differential.
GenevestigatoriO60479.

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]
ProtoNetiSearch...

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: February 4, 2015
This is version 127 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.