LSM7
entrez
51690
canonical
uniprot
Q9UK45
canonical
ensembl
ENSG00000130332
resolver
ensp
ENSP00000252622
resolver
enst
ENST00000252622
resolver
genesymbol
LSM7
resolver
hgnc
HGNC:20470
resolver
uniprot_entry
LSM7_HUMAN
resolver
amino_acid_sequence
MADKEKKKKESILDLSKYIDKTIRVKFQGGREASGILKGFDPLLNLVLDGTIEYMRDPDDQYKLTEDTRQLGLVVCRGTSVVLICPQDGMEAIPNPFIQQQDA
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy and cerebellar atrophy (LDCA) [MIM:621191]: An autosomal recessive disorder characterized by neurodevelopmental features including developmental delay, limited speech, axial hypotonia, and white matter abnormalities with cerebellar atrophy. {ECO:0000269|PubMed:35047835, ECO:0000269|PubMed:39420558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166, PubMed:35047835). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:35047835}.
uniprot
proteins
mass_dalton
11602
uniprot
proteins
protein_family
SnRNP Sm proteins family
uniprot
proteins
pubmed
10523320
uniprot
proteins
pubmed
12165861
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
35047835
uniprot
proteins
pubmed
39420558
uniprot
proteins
sequence_length
103
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.
uniprot
proteins