SASH1

Name

SAM and SH3 domain containing 1

Type

protein-coding

Position

148,272,304–148,552,044 (+)

Aliases

CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1

Ensembl

ENSG00000111961

RefSeq RNA

NM_001346505.2, NM_001346506.2, NM_001346507.2, NM_001346508.2, NM_001346509.2

RefSeq protein

NP_001333434.1, NP_001333435.1, NP_001333436.1, NP_001333437.1, NP_001333438.1

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].