SMARCA6 gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis.
Function:
Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity).
Subcellular Location:
Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By similarity).
Tissue Specificity:
Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias.
Similarity:
Belongs to the SNF2/RAD54 helicase family.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.
SWISS:
Q9NRZ9
Gene ID:
3070
Database links:
Entrez Gene: 3070 Human
Entrez Gene: 15201 Mouse
GenBank: AAH30963 Human
Omim: 603946 Human
SwissProt: Q9NRZ9 Human
SwissProt: Q60848 Mouse
Unigene: 655830 Human
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