SWR1 Antibody – Goat Polyclonal

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

SRCAP: Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription. Defects in SRCAP are the cause of Floating-Harbor syndrome (FLHS). A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Acetyltransferase; EC 3.6.4.-; Helicase; EC 3.6.1.-; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: nucleoplasm; Golgi apparatus; protein complex; perinuclear region of cytoplasm; nucleus

Molecular Function: protein binding; histone acetyltransferase activity; DNA binding; transcription coactivator activity; helicase activity; ATP binding

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; viral reproduction; histone acetylation

Disease: Floating-harbor Syndrome