DLX5

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq]

Full Name

distal-less homeobox 5

Function

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.

Biological Process

Anatomical structure formation involved in morphogenesis Source: GO_Central
BMP signaling pathway Source: BHF-UCL
Cell differentiation Source: GO_Central
Cell population proliferation Source: UniProtKB
Cellular response to BMP stimulus Source: BHF-UCL
Embryonic limb morphogenesis Source: Ensembl
Endochondral ossification Source: UniProtKB
Epithelial cell differentiation Source: Ensembl
Face morphogenesis Source: Ensembl
Inner ear morphogenesis Source: Ensembl
Interneuron axon guidance Source: Ensembl
Nervous system development Source: ProtInc
Olfactory bulb interneuron differentiation Source: Ensembl
Olfactory pit development Source: Ensembl
Osteoblast differentiation Source: UniProtKB
Positive regulation of canonical Wnt signaling pathway Source: Ensembl
Positive regulation of epithelial cell proliferation Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Source: BHF-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central
Roof of mouth development Source: Ensembl
Skeletal system development Source: ProtInc

Cellular Location

Nucleus

Involvement in disease

Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D):
A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

PTM

Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation by CaMK2 increases its protein stability (By similarity).