Gene: Dlx5

Basic information

Tag Content
Uniprot ID P70396; O54876; O54877; O54878; Q9JJ45;
Entrez ID 13395
Genbank protein ID AAC52843.1; AAB94581.1; AAF86636.1; AAB94582.1; AAF86637.1; AAB94580.1; AAB86899.1;
Genbank nucleotide ID NM_010056.3; NM_198854.2;
Ensembl protein ID ENSMUSP00000052559; ENSMUSP00000138264;
Ensembl nucleotide ID ENSMUSG00000029755
Gene name Homeobox protein DLX-5
Gene symbol Dlx5
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E13.5
Data sources Manually collected
Reference 16330189; 19934017; 10433909; 10433912;
Functional description Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.
Sequence
MTGVFDRRVP SIRSGDFQAP FPTSAAMHHP SQESPTLPES SATDSDYYSP AGAAPHGYCS 60
PTSASYGKAL NPYQYQYHGV NGSAAGYPAK AYADYGYASP YHQYGGAYNR VPSATSQPEK 120
EVAEPEVRMV NGKPKKVRKP RTIYSSFQLA ALQRRFQKTQ YLALPERAEL AASLGLTQTQ 180
VKIWFQNKRS KIKKIMKNGE MPPEHSPSSS DPMACNSPQS PAVWEPQGSS RSLSHHPHAH 240
PPTSNQSPAS SYLENSASWY PSAASSINSH LPPPGSLQHP LALASGTLY 289

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDLX5507415Q1RMR7Bos taurusPredictionMore>>
1:1 orthologDLX5482313E2RJY3Canis lupus familiarisPredictionMore>>
1:1 orthologDLX5102184778A0A452DYR1Capra hircusPredictionMore>>
1:1 orthologDLX5100052263F7DY45Equus caballusPredictionMore>>
1:1 orthologDLX51749P56178Homo sapiensPredictionMore>>
1:1 orthologDlx513395P70396CPOE13.5Mus musculusPublicationMore>>
1:1 orthologDLX5463554H2QUZ2Pan troglodytesPredictionMore>>
1:1 orthologDLX5A0A287AIX4Sus scrofaPredictionMore>>
1:1 orthologDLX5100008630G1SVH5Oryctolagus cuniculusPredictionMore>>
1:1 orthologDlx525431A0A0G2JSK6Rattus norvegicusPredictionMore>>
1:1 orthologdlx5a30569Q5XJL9Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0003677 DNA bindingIDA
GO:0003700 DNA-binding transcription factor activityIBA
GO:0005515 protein bindingIPI
GO:0043565 sequence-specific DNA bindingIBA
GO:0044212 transcription regulatory region DNA bindingISO
GO:0044212 transcription regulatory region DNA bindingIDA
GO:0071837 HMG box domain bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001649 osteoblast differentiationIDA
GO:0001958 endochondral ossificationIMP
GO:0006355 regulation of transcription, DNA-templatedIMP
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0007409 axonogenesisIMP
GO:0007411 axon guidanceIMP
GO:0008283 cell population proliferationISS
GO:0008283 cell population proliferationISO
GO:0010628 positive regulation of gene expressionIMP
GO:0021889 olfactory bulb interneuron differentiationIMP
GO:0030154 cell differentiationIBA
GO:0030326 embryonic limb morphogenesisIGI
GO:0030509 BMP signaling pathwayIMP
GO:0030855 epithelial cell differentiationIGI
GO:0042472 inner ear morphogenesisIMP
GO:0042472 inner ear morphogenesisIGI
GO:0043583 ear developmentIMP
GO:0045669 positive regulation of osteoblast differentiationISO
GO:0045893 positive regulation of transcription, DNA-templatedISO
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0048646 anatomical structure formation involved in morphogenesisIGI
GO:0048646 anatomical structure formation involved in morphogenesisIBA
GO:0050679 positive regulation of epithelial cell proliferationIGI
GO:0060021 roof of mouth developmentIMP
GO:0060021 roof of mouth developmentIGI
GO:0060166 olfactory pit developmentIMP
GO:0060322 head developmentIGI
GO:0060325 face morphogenesisIMP
GO:0060349 bone morphogenesisIMP
GO:0071773 cellular response to BMP stimulusIMP
GO:0090263 positive regulation of canonical Wnt signaling pathwayIMP
GO:0097376 interneuron axon guidanceIMP
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinIDA
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-0892 Osteogenesis
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR022135 Distal-less_N
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2

Pfam

Pfam ID Pfam Term
PF12413 DLL_N
PF00046 Homeodomain

Protein-protein interaction

Protein-miRNA interaction