nucleosome-remodeling factor subunit BPTF; bromodomain & PHD finger-containing transcription factor; fetal Alzheimer antigen; fetal Alz-50 clone 1 protein (BPTF, FAC1, FALZ)

Function: - histone-binding component of nucleosome-remodeling factor (NuRF) - specifically recognizes H3 tails trimethylated on Lys-4 (H3-K4Me3), which mark transcription start sites of virtually all active genes - may also regulate transcription through direct binding to DNA or transcription factors - phosphorylation enhances DNA-binding - phosphorylated upon DNA damage, probably by ATM or ATR - interacts with MAZ - interacts with KEAP1 - interacts with histone H3-K4Me3 & to a lesser extent with histone H3-K4Me2 Structure: - the second PHD-type Zn⁺² finger mediates binding to histone H3-K4Me3 - belongs to the PBTF family - contains 1 bromo domain - contains 1 DDT domain - contains 2 PHD-type Zn⁺² fingers Compartment: - cytoplasm. nucleus - in brains of Alzheimer disease patients, present in a subset of amyloid-containing plaques Alternative splicing: named isoforms=3 Expression: - ubiquitously expressed with highest levels in testis - present in kidney, liver & brain - in the brain, highest levels are found in motor cortex (at protein level) - abundantly expressed in the fetal brain - present throughout the gray & white matter of the developing spinal cord at 18-22 gestational weeks - expressed at low levels in adult brain & spinal cord & reexpressed in neurodegenerative diseases (at protein level) Notes: highly susceptible to proteolysis

General

antigen phosphoprotein zinc finger protein

Properties

SIZE: entity length = 3046 aa MW = 338 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: glutamate-rich region {143-180} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site {S216} DDT {240-300} Zn finger PHD-type NAME: Zn finger PHD-type SITE: 390-437 EFFECTOR-BOUND: Zn+2 Ser phosphorylation site {S572} coiled coil {574-604} KEAP1 interaction {640-749} Ser phosphorylation site {S763} Ser phosphorylation site {S817} MAZ interaction {839-921} MOTIF: Tyr phosphorylation site {Y839} Thr phosphorylation site {T909} coiled coil {978-1007} Thr phosphorylation site {T1064} Ser phosphorylation site {S1231} Ser phosphorylation site {S1300} threonine-rich region {1709-1803} MOTIF: threonine residue (SEVERAL) Ser phosphorylation site {S1827} Ser phosphorylation site {S1833} coiled coil {2022-2050} Ser phosphorylation site {S2098} threonine-rich region {2338-2361} MOTIF: threonine residue (SEVERAL) Ser phosphorylation site {S2465} coiled coil {2706-2732} proline-rich region SITE: 2795-2817 MOTIF: proline residue (SEVERAL) lysine-rich region {2848-2853} MOTIF: lysine residue (SEVERAL) Zn finger PHD-type NAME: Zn finger PHD-type SITE: 2867-2918 EFFECTOR-BOUND: Zn+2 MOTIF: binding site SITE: 2869-2869 FOR-BINDING-OF: Histone H3-K4Me3 binding site SITE: 2876-2876 FOR-BINDING-OF: Histone H3-K4Me3 binding site SITE: 2882-2882 FOR-BINDING-OF: Histone H3-K4Me3 binding site SITE: 2891-2891 FOR-BINDING-OF: Histone H3-K4Me3 bromodomain {2944-3014}

Database Correlations

OMIM 601819 UniProt Q12830 PFAM correlations Entrez Gene 2186 Kegg hsa:2186