SAMD8 Gene Summary [Human]

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
SAMD8
Official Name
sterile alpha motif domain containing 8 [Source:HGNC Symbol;Acc:HGNC:26320]
Ensembl ID
ENSG00000156671
Bio databases IDs NCBI: 142891 Ensembl: ENSG00000156671
Aliases sterile alpha motif domain containing 8, sphingomyelin synthase related, ceramide phosphoethanolamine synthase
Synonyms 1110053F04RIK, 1700010P07RIK, HEL-177, SMSr, sterile alpha motif domain containing 8, sterile α motif domain containing 8
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SAMD8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Sterile alpha motif
  • substituted phosphate group transferase
  • SAM (Sterile alpha motif )
  • PAP2 superfamily C-terminal
  • enzyme

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • atrial fibrillation
  • hepatic steatosis
  • spine abnormality
regulated by
role in cell
  • production in
  • morphology

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • Endoplasmic Reticulum
  • cytosol
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SAMD8 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ceramide biosynthetic process
  • regulation of ceramide biosynthetic process
  • sphingomyelin biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • membrane
  • cytosol
  • Golgi membrane
  • endoplasmic reticulum
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ceramide cholinephosphotransferase activity
  • sphingomyelin synthase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.