LSM11
entrez
134353
canonical
uniprot
P83369
canonical
ensembl
ENSG00000155858
resolver
ensp
ENSP00000286307
resolver
enst
ENST00000286307
resolver
genesymbol
LSM11
resolver
hgnc
HGNC:30860
resolver
uniprot
A0AVQ1
resolver
uniprot
Q7Z7P0
resolver
uniprot
Q8N975
resolver
uniprot_entry
LSM11_HUMAN
resolver
uniprot_sec
A0AVQ1
resolver
uniprot_sec
Q7Z7P0
resolver
uniprot_sec
Q8N975
resolver
amino_acid_sequence
MEERERGARSAGAGSPARPPSPRLDVSSDSFDPLLALYAPRLPPIPYPNAPCFNNVAEYESFLRTGVRGGGRGRGRARGAAAGSGVPAAPGPSGRTRRRPDAPAPDPERIQRLRRLMVAKEEGDGAAGAGRRGPGRSRKAPRNVLTRMPLHEGSPLGELHRCIREGVKVNVHIRTFKGLRGVCTGFLVAFDKFWNMALTDVDETYRKPVLGKAYERDSSLTLTRLFDRLKLQDSSKKEADSKSAVEDSTLSRYSQTSTWKLASVWGRADTGRGSHKRSRSVPSSLQASAREESRSELSGRTTRTDGSSVGGTFSRATTLSRGQSRKKKRKPKVDYQQVFTRHINQIFIRGENVLLVHLAQ
uniprot
proteins
disease_involvement
DISEASE: Aicardi-Goutieres syndrome 8 (AGS8) [MIM:619486]: 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. Note=The disease is caused by variants affecting the gene represented in this entry. Impaired histone 3'-end pre-mRNA processing caused by disease variants affects chromatin structure, relieving CGAS inhibition by nucleosomes (PubMed:33230297). This activates the cGAS-STING pathway, triggering type-I interferon production and autoinflammation (PubMed:33230297). {ECO:0000269|PubMed:33230297}.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q8BUV6, ECO:0000269|PubMed:11574479, ECO:0000269|PubMed:16914750, ECO:0000269|PubMed:33230297}.
uniprot
proteins
mass_dalton
39500
uniprot
proteins
protein_family
SnRNP Sm proteins family
uniprot
proteins
pubmed
11574479
uniprot
proteins
pubmed
12975319
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16714279
uniprot
proteins
pubmed
16914750
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
33230297
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12975319}.
uniprot
proteins