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. Belongs to the SNF2/RAD54 helicase family. 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. 9 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Apoptosis; EC 3.6.1.-; EC 3.6.4.-; Helicase |
Chromosomal Location of human Ortholog: 10q23.33 |
Cellular Component:
chromosome, centromeric region; nucleus; pericentric heterochromatin
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Molecular Function:
ATP binding; ATP-dependent chromatin remodeler activity; chromatin binding; helicase activity; hydrolase activity; protein binding
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Biological Process:
apoptotic process; cell cycle; cell division; cellular response to leukemia inhibitory factor; DNA methylation; DNA methylation-dependent heterochromatin formation; kidney development; lymphocyte proliferation; negative regulation of gene expression via CpG island methylation; negative regulation of intrinsic apoptotic signaling pathway; pericentric heterochromatin formation; urogenital system development
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Disease: Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 4
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Reference #:
Q9NRZ9
(UniProtKB)
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Alt. Names/Synonyms: FLJ10339; helicase, lymphoid specific; helicase, lymphoid-specific; HELLS; ICF4; 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
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Gene Symbols: HELLS
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Molecular weight:
97,074 Da
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Basal Isoelectric point:
8.07
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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