SAMD1 Gene - Structure, Function, Expression, and Disease Associations

SAMD1 (sterile alpha motif domain containing 1) is a protein-coding gene located on chromosome 19p13.12. The encoded protein contains a sterile alpha motif (SAM) domain, which is often involved in protein-protein interactions and transcriptional regulation. SAMD1 is implicated in chromatin binding and may function as a transcriptional repressor. Expression data suggest roles in development and cancer, with mutations reported in various malignancies.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Not assigned to any specific KEGG or Reactome pathway as of current annotation.

SAMD1 encodes a 456-amino acid protein containing a sterile alpha motif (SAM) domain at the N-terminus. The SAM domain mediates protein-protein interactions and is often found in proteins involved in transcriptional regulation and chromatin remodeling. SAMD1 localizes to the nucleus and can bind DNA, suggesting a role in gene expression control. Structural studies indicate that the SAM domain may form homo-oligomers or interact with other SAM-containing proteins. Post-translational modifications include phosphorylation, which may modulate its activity.