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
  • required for interaction with chromoshadow domains
  • 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:
  • X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome)
  • Carpenter-Wiziri syndrome

More general terms

• DEAD box ATP-dependent helicase
• phosphoprotein
• zinc finger protein

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/300032
• OMIM: https://mirror.omim.org/entry/301040
• OMIM: https://mirror.omim.org/entry/309470
• OMIM: https://mirror.omim.org/entry/309580
• OMIM: https://mirror.omim.org/entry/309590
• OMIM: https://mirror.omim.org/entry/300448
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=546
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:546
• UniProt: http://www.uniprot.org/uniprot/P46100.html