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HELLS 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 concanavalin-A in peripheral blood leukocytes. 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. Belongs to the SNF2/RAD54 helicase family. 9 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Apoptosis; EC 3.6.1.-; EC 3.6.4.-; Helicase
Chromosomal Location of Human Ortholog: 10q23.33
Cellular Component: centric heterochromatin; chromosome, pericentric region
Molecular Function: protein binding
Biological Process: centric heterochromatin formation; lymphocyte proliferation; maintenance of DNA methylation; methylation-dependent chromatin silencing; multicellular organismal development
Disease: Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 4
Reference #:  Q9NRZ9 (UniProtKB)
Alt. Names/Synonyms: FLJ10339; helicase, lymphoid-specific; HELLS; LSH; Lymphoid-specific helicase; Nbla10143; PASG; Proliferation-associated SNF2-like protein; SMARCA6; SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6; SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
Gene Symbols: HELLS
Molecular weight: 97,074 Da
Basal Isoelectric point: 8.07  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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