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Protein Page:
DLX5 (human)

Overview
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. Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (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. Belongs to the distal-less homeobox family. Note: This description may include information from UniProtKB.
Protein type: DNA binding protein; Transcription factor
Cellular Component: cytoplasm; nuclear chromatin
Biological Process: axon guidance; nervous system development; inner ear morphogenesis; positive regulation of transcription, DNA-dependent; olfactory pit development; palate development; osteoblast differentiation; BMP signaling pathway; cell proliferation; positive regulation of osteoblast differentiation; epithelial cell differentiation; anatomical structure formation; skeletal development; positive regulation of epithelial cell proliferation; endochondral ossification; embryonic limb morphogenesis
Reference #:  P56178 (UniProtKB)
Alt. Names/Synonyms: distal-less homeo box 5; distal-less homeobox 5; DLX5; Homeobox protein DLX-5
Gene Symbols: DLX5
Molecular weight: 31,540 Da
Basal Isoelectric point: 9.31  Predict pI for various phosphorylation states
Select Structure to View Below

DLX5

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
1 0 S34 MHHPSQESPTLPESS
1 0 S217 SDPMACNSPQSPAVW
  mouse

 
S34-p MHHPSQEsPTLPESS
S217-p SDPMACNsPQSPAVW
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