LSM11

LSM11 is a component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to the Sm-binding site of U7 snRNA.

Full Name

LSM11, U7 small nuclear RNA associated

Function

Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (PubMed:11574479, PubMed:16914750, PubMed:33230297).
Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed (PubMed:11574479, PubMed:16914750).
Required for cell cycle progression from G1 to S phases (By similarity).
Binds specifically to the Sm-binding site of U7 snRNA (PubMed:11574479, PubMed:16914750).

Biological Process

mRNA 3'-end processing by stem-loop binding and cleavageManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of G1/S transition of mitotic cell cycleManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of chromatin organizationManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Aicardi-Goutieres syndrome 8 (AGS8):
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive.