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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; nucleolus; nucleus Molecular Function: transcription factor activity Biological Process: axon guidance; nervous system development; inner ear morphogenesis; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; olfactory pit development; palate development; osteoblast differentiation; positive regulation of osteoblast differentiation; cell proliferation; epithelial cell differentiation; positive regulation of transcription from RNA polymerase II promoter; 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 2DJN - A=138-194 (human)

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	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

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
0	1		S60-p	GAPHGYCsPTSASyG
0	1		Y66-p	CsPTSASyGKALNPY
0	1		K133	EVRMVNGKPKKVRKP
1	0		S217	SDPMACNSPQSPAVW

	mouse
S34-p	MHHPSQEsPTLPESS
S60	AAPHGYCSPTSASYG
Y66	CSPTSASYGKALNPY
K133-a	EVRMVNGkPKKVRKP
S217-p	SDPMACNsPQSPAVW

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