DLX5
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. Belongs to the distal-less homeobox family. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: DNA-binding; Transcription factor |
Chromosomal Location of human Ortholog: 7q21.3 |
Cellular Component:
chromatin; cytoplasm; nucleus
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Molecular Function:
DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; HMG box domain binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; transcription cis-regulatory region binding
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Biological Process:
anatomical structure formation involved in morphogenesis; BMP signaling pathway; cell differentiation; cell population proliferation; cellular response to BMP stimulus; embryo development; embryonic limb morphogenesis; endochondral ossification; epithelial cell differentiation; face morphogenesis; inner ear morphogenesis; interneuron axon guidance; nervous system development; olfactory bulb interneuron differentiation; olfactory pit development; osteoblast differentiation; positive regulation of canonical Wnt signaling pathway; positive regulation of DNA-templated transcription; positive regulation of epithelial cell proliferation; positive regulation of gene expression; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus; regulation of transcription by RNA polymerase II; roof of mouth development; skeletal system development
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Disease: Split-hand/foot Malformation 1; Split-hand/foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
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Reference #:
P56178
(UniProtKB)
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Alt. Names/Synonyms: distal-less homeo box 5; distal-less homeobox 5; DLX5; Homeobox protein DLX-5; SHFM1; SHFM1D; split hand/foot malformation type 1 with sensorineural hearing loss
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Gene Symbols: DLX5
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Molecular weight:
31,540 Da
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Basal Isoelectric point:
9.31
Predict pI for various phosphorylation states
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