X-linked helicase-2; transcriptional regulator ATRX; ATP-dependent helicase ATRX; RAD54 homolog; X-linked nuclear protein XNP (ATRX, ATR2, RAD54L, XH2)

Function: - possible transcriptional regulator - may be involved in brain development & facial morphogenesis - binds annexin-V (Ca⁺² & phosphatidylcholine/phosphatidylserine dependent) - binds EZH2 - interacts directly with CBX5 via the PxVxL motif - phosphorylated upon DNA damage, probably by ATM or ATR Structure: - contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif a) required for interaction with chromoshadow domains b) motif requires additional residues -7, -6, +4 & +5 of the central Val which contact the chromoshadow domain - belongs to the SNF2/RAD54 helicase family - contains 1 GATA-type Zn⁺² finger - contains 1 helicase ATP-binding domain - contains 1 helicase C-terminal domain - contains 1 PHD-type Zn⁺² finger Compartment: - nucleus - associated with pericentromeric heterochromatin during interphase & mitosis, probably by interacting with HP1 Alternative splicing: named isoforms=6 Expression: ubiquitous Genetics: - defects in ATRX are associated with: a) X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) b) Carpenter-Wiziri syndrome

Related

ATRX gene mutation DNA repair & recombination protein RAD54-like; RAD54 homolog; hRAD54; hHR54 (RAD54L, RAD54A)

General

DEAD box ATP-dependent helicase phosphoprotein zinc finger protein

Properties

SIZE: entity length = 2492 aa MW = 283 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S34} Ser phosphorylation site {S71} Ser phosphorylation site {S74} Thr phosphorylation site {T87} Ser phosphorylation site {S92} Zn finger GATA-type SITE: 171-200 EFFECTOR-BOUND: Zn+2 Zn finger PHD-type NAME: Zn finger PHD-type SITE: 220-268 EFFECTOR-BOUND: Zn+2 PxVxL {581-594} MOTIF: Ser phosphorylation site {S594} Ser phosphorylation site {S598} Ser phosphorylation site {S634} Thr phosphorylation site {T674} Ser phosphorylation site {S675} Ser phosphorylation site {S677} Ser phosphorylation site {S729} Ser phosphorylation site {S731} serine-rich region {745-750} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S849} Ser phosphorylation site {S850} Ser phosphorylation site {S871} Ser phosphorylation site {S875} Ser phosphorylation site {S876} serine-rich region {1151-1156} MOTIF: serine residue (SEVERAL) lysine-rich region {1166-1169} MOTIF: lysine residue (SEVERAL) serine-rich region {1202-1206} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S1348} Ser phosphorylation site {S1352} glutamate-rich region {1443-1466} MOTIF: glutamate residue (SEVERAL) glutamate-rich region {1499-1502} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site {S1527} helicase NAME: helicase SITE: 1581-1768 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 1594-1601 DEAD/H box NAME: DEAD/H box SITE: 1719-1722 lysine-rich region {1929-1939} MOTIF: lysine residue (SEVERAL) serine-rich region {1941-1948} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S1991} Ser phosphorylation site {S1996} Helicase C-terminal {2025-2205} Ser phosphorylation site {S2220} lysine-rich region {2222-2225} MOTIF: lysine residue (SEVERAL) glutamate-rich region {2262-2265} MOTIF: glutamate residue (SEVERAL) glutamine-rich region {2420-2425} MOTIF: glutamine residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 300032 UniProt P46100 PFAM correlations Entrez Gene 546 Kegg hsa:546