homeobox protein Nkx-3.2; Bagpipe homeobox protein homolog 1; homeobox protein NK-3 homolog B (NKX3-2, BAPX1, NKX3B)

Function: - transcriptional repressor - acts as a negative regulator of chondrocyte maturation - role in distal stomach development - required for proper antral-pyloric morphogenesis & development of antral-type epithelium - in concert with GSC, defines the structural components of the middle ear - required for tympanic ring & gonium development & in the regulation of the width of the malleus (putative) Structure: - belongs to the NK-3 homeobox family - contains 1 homeobox DNA-binding domain Compartment: nucleus (probable) Expression: - expressed at highest levels in cartilage, bone (osteosarcoma) & gut (small intestine & colon) - moderate expression is seen in trachea & brain - expressed in visceral mesoderm & embryonic skeleton Pathology: - defects in NKX3-2 are the cause of spondylo-megaepiphyseal-metaphyseal dysplasia

General

homeobox protein transcriptional silencer (transcriptional repressor)

Properties

SIZE: entity length = 333 aa MW = 35 kD COMPARTMENT: cell nucleus MOTIF: glycine-rich region {180-188} glutamate-rich region {194-198} MOTIF: glutamate residue (SEVERAL) homeodomain SITE: 206-265 alanine-rich region {327-330} MOTIF: alanine residue (SEVERAL)

Database Correlations

OMIM correlations UniProt P78367 Pfam PF00046 Entrez Gene 579 Kegg hsa:579

References

UniProt :accession Q15475