Aliases for SASH1 Gene
External Ids for SASH1 Gene
Previous GeneCards Identifiers for SASH1 Gene
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
GeneCards Summary for SASH1 Gene
SASH1 (SAM And SH3 Domain Containing 1) is a Protein Coding gene. Diseases associated with SASH1 include Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma and Dyschromatosis Universalis Hereditaria 1. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein-containing complex scaffold activity. An important paralog of this gene is SAMSN1.
UniProtKB/Swiss-Prot Summary for SASH1 Gene
Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244).