SAMD9L

This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]

Description

Sterile alpha motif domain containing 9 like

Tissue specificity

Tissue enhanced (lymphoid tissue)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (93130056 - 93148385)

Ensembl ID

ENSG00000177409  (ver. 103.38)

Orthologs

Mouse Samd9l: ENSMUSG00000047735

UniProt

Q8IVG5

neXtProt

NX_Q8IVG5

Human splice variants
Mouse splice variants

Protein structure