Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4. Isoform 3 and isoform 4 can bind to a EPHA8 promoter sequence containing the DNA motif 5'-CGGTCA-3'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5'-TGACAG-3'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription. {Experimental EvidencePubMed:10764806, Experimental EvidencePubMed:11279116, Experimental EvidencePubMed:21746878}.
Cleft palate, cardiac defects, and intellectual disability (CPCMR) [MIM:600987]: An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes. {Experimental EvidencePubMed:24678003, Experimental EvidencePubMed:25712757, Experimental EvidencePubMed:27225850}. Note=The disease is caused by variants affecting the gene represented in this entry.
Keratin-associated protein 10-8 (High sulfur keratin-associated protein 10.8) (Keratin-associated protein 10.8) (Keratin-associated protein 18-8) (Keratin-associated protein 18.8)
BPI fold-containing family A member 1 (Lung-specific protein X) (Nasopharyngeal carcinoma-related protein) (Palate lung and nasal epithelium clone protein) (Secretory protein in upper respiratory tracts) (Short PLUNC1) (SPLUNC1) (Tracheal epithelium-enriched protein) (Von Ebner protein Hl)
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory