DLX3

Mammalian protein found in Homo sapiens
DLX3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4XRS

Identifiers
AliasesDLX3, AI4, TDO, AV237891, Dlx-3, distal-less homeobox 3
External IDsOMIM: 600525; MGI: 94903; HomoloGene: 74544; GeneCards: DLX3; OMA:DLX3 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for DLX3
Genomic location for DLX3
Band17q21.33Start49,990,005 bp[1]
End49,995,224 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for DLX3
Genomic location for DLX3
Band11 D|11 59.01 cMStart95,010,945 bp[2]
End95,016,122 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of leg

  • skin of abdomen

  • skin of arm

  • testicle

  • placenta

  • gums

  • gingival epithelium

  • skin of thigh

  • popliteal artery

  • tibial arteries
Top expressed in
  • tooth

  • molar

  • lip

  • hair follicle

  • incisor

  • tongue

  • skin of back

  • lower jaw

  • genital tubercle

  • mandible
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • DNA-binding transcription factor activity
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • sequence-specific DNA binding
  • chromatin binding
  • protein binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • DNA binding
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular component
  • nucleus
Biological process
  • multicellular organism development
  • regulation of transcription, DNA-templated
  • placenta development
  • blood vessel development
  • positive regulation of transcription by RNA polymerase II
  • transcription by RNA polymerase II
  • odontoblast differentiation
  • odontogenesis of dentin-containing tooth
  • regulation of transcription by RNA polymerase II
  • cell differentiation
  • epithelial cell differentiation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1747

13393

Ensembl

ENSG00000064195

ENSMUSG00000001510

UniProt

O60479

Q64205

RefSeq (mRNA)

NM_005220

NM_010055

RefSeq (protein)

NP_005211

NP_034185

Location (UCSC)Chr 17: 49.99 – 50 MbChr 11: 95.01 – 95.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.[5][6]

Function

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Dlx3 transcription is mediated through Wnt, and colocalization of Dlx3 with phospho-SMAD1/5/8 is involved in the regulation of transcription by BMP signaling.[7] Dlx3 transcription is also induced by BMP-2 through transactivation with SMAD1 and SMAD4.[8]

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17.[6]

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000064195 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001510 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC (Aug 1995). "Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization". Mamm Genome. 6 (4): 310–1. doi:10.1007/BF00352432. PMID 7613049. S2CID 3088522.
  6. ^ a b c "Entrez Gene: DLX3 distal-less homeobox 3".
  7. ^ Hwang J, Mehrani T, Millar SE, Morasso MI (September 2008). "Dlx3 is a crucial regulator of hair follicle differentiation and cycling". Development. 135 (18): 3149–59. doi:10.1242/dev.022202. PMC 2707782. PMID 18684741.
  8. ^ Park GT, Morasso MI (January 2002). "Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes". Nucleic Acids Res. 30 (2): 515–22. doi:10.1093/nar/30.2.515. PMC 99823. PMID 11788714.

Further reading

  • Morasso MI, Radoja N (2005). "Dlx Genes, p63, and Ectodermal Dysplasias". Birth Defects Res. C. 75 (3): 163–71. doi:10.1002/bdrc.20047. PMC 1317295. PMID 16187309.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Nakamura S, Stock DW, Wydner KL, et al. (1997). "Genomic analysis of a new mammalian distal-less gene: Dlx7". Genomics. 38 (3): 314–24. doi:10.1006/geno.1996.0634. PMID 8975708.
  • Price JA, Bowden DW, Wright JT, et al. (1998). "Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome". Hum. Mol. Genet. 7 (3): 563–9. doi:10.1093/hmg/7.3.563. PMID 9467018.
  • Roberson MS, Meermann S, Morasso MI, et al. (2001). "A role for the homeobox protein Distal-less 3 in the activation of the glycoprotein hormone alpha subunit gene in choriocarcinoma cells". J. Biol. Chem. 276 (13): 10016–24. doi:10.1074/jbc.M007481200. PMID 11113121.
  • Park GT, Denning MF, Morasso MI (2001). "Phosphorylation of murine homeodomain protein Dlx3 by protein kinase C". FEBS Lett. 496 (1): 60–5. Bibcode:2001FEBSL.496...60P. doi:10.1016/S0014-5793(01)02398-5. PMC 1283141. PMID 11343707.
  • Peng L, Payne AH (2002). "AP-2 gamma and the homeodomain protein distal-less 3 are required for placental-specific expression of the murine 3 beta-hydroxysteroid dehydrogenase VI gene, Hsd3b6". J. Biol. Chem. 277 (10): 7945–54. doi:10.1074/jbc.M106765200. PMID 11773066.
  • Sumiyama K, Irvine SQ, Stock DW, et al. (2002). "Genomic structure and functional control of the Dlx3-7 bigene cluster". Proc. Natl. Acad. Sci. U.S.A. 99 (2): 780–5. Bibcode:2002PNAS...99..780S. doi:10.1073/pnas.012584999. PMC 117382. PMID 11792834.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
  • Holland MP, Bliss SP, Berghorn KA, Roberson MS (2004). "A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells". Endocrinology. 145 (3): 1096–105. doi:10.1210/en.2003-0777. PMID 14670999.
  • Haldeman RJ, Cooper LF, Hart TC, et al. (2005). "Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome". Bone. 35 (4): 988–97. doi:10.1016/j.bone.2004.06.003. PMID 15454107.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Dong J, Amor D, Aldred MJ, et al. (2005). "DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism". Am. J. Med. Genet. A. 133 (2): 138–41. doi:10.1002/ajmg.a.30521. PMID 15666299. S2CID 8482065.
  • Islam M, Lurie AG, Reichenberger E (2006). "Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity". Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 100 (6): 736–42. doi:10.1016/j.tripleo.2005.04.017. PMID 16301156.
  • Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
  • Morsczeck C (2006). "Gene expression of runx2, Osterix, c-fos, DLX-3, DLX-5, and MSX-2 in dental follicle cells during osteogenic differentiation in vitro". Calcif. Tissue Int. 78 (2): 98–102. doi:10.1007/s00223-005-0146-0. PMID 16467978. S2CID 7621703.
  • Berghorn KA, Clark-Campbell PA, Han L, et al. (2006). "Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding". J. Biol. Chem. 281 (29): 20357–67. doi:10.1074/jbc.M603049200. PMID 16687405.
  • DLX3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Overview of all the structural information available in the PDB for UniProt: O60479 (Homeobox protein DLX-3) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies


Stub icon

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e