lymphoid-specific helicase (SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6, proliferation-associated SNF2-like protein, HELLS, PASG, SMARCA,6 Nbla10143)

Function

• role in normal development & survival
• role in regulation of expansion or survival of lymphoid cells
• required for de novo or maintenance DNA methylation
  • may control silencing of imprinted CDKN1C gene via DNA methylation
• role in formation & organization of heterochromatin, implying functional role in regulation of transcription & mitosis

Structure

• belongs to the SNF2/RAD54 helicase family
• contains 1 helicase ATP-binding domain
  • contains 1 helicase C-terminal domain

Compartment

• nucleus
• closely associated with pericentric heterochromatin

Alternative splicing

named isoforms=9

Expression

• highly expressed in proliferative tissues, including thymus & testis > uterus, small intestine, colon, & peripheral blood mononuclear cells
• induced by concanavalin A in peripheral blood leukocytes

Pathology

• expressed in neoplastic cell lines including myeloid & lymphoid leukemia cells

More general terms

• helicase (DNA unwinding protein, DNA untwisting protein)

Database

• OMIM: https://mirror.omim.org/entry/603946
• UniProt: http://www.uniprot.org/uniprot/Q9NRZ9.html