| Gene Symbol | DLX5 |
|---|---|
| Entrez Gene | 1749 |
| Alt Symbol | SHFM1D |
| Species | Human |
| Gene Type | protein-coding |
| Description | distal-less homeobox 5 |
| Other Description | distal-less homeo box 5|homeobox protein DLX-5|split hand/foot malformation type 1 with sensorineural hearing loss |
| Swissprots | B7Z4P3 Q9UPL1 P56178 |
| Accessions | AAC17833 EAL24121 EAW76741 P56178 AA129308 AK023493 BAB14587 AK297614 BAH12629 BC006226 AAH06226 BT006903 AAP35549 DB280023 XM_005250185 XP_005250242 XM_011515860 XP_011514162 XR_927389 NM_005221 NP_005212 |
| 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. {ECO:0000269|PubMed:19497851}. |
| Subcellular Location | Nucleus {ECO:0000255|PROSITE- ProRule:PRU00108}. |
| Top Pathways | Signaling pathways regulating pluripotency of stem cells |