SNRPE
entrez
6635
canonical
uniprot
P62304
canonical
ensembl
ENSG00000182004
resolver
ensp
ENSP00000400591
resolver
ensp
ENSP00000745800
resolver
enst
ENST00000414487
resolver
genesymbol
SNRPE
resolver
hgnc
HGNC:11161
resolver
uniprot
B2R5B9
resolver
uniprot
P08578
resolver
uniprot
Q15498
resolver
uniprot
Q5BKT2
resolver
uniprot_entry
RUXE_HUMAN
resolver
uniprot_sec
B2R5B9
resolver
uniprot_sec
P08578
resolver
uniprot_sec
Q15498
resolver
uniprot_sec
Q5BKT2
resolver
amino_acid_sequence
MAYRGQGQKVQKVMVQPINLIFRYLQNRSRIQVWLYEQVNMRIEGCIIGFDEYMNLVLDDAEEIHSKTKSRKQLGRIMLKGDNITLLQSVSN
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 11 (HYPT11) [MIM:615059]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected. {ECO:0000269|PubMed:23246290}. 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 a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23246290, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12975319, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:19325628, ECO:0000269|PubMed:23246290, ECO:0000269|PubMed:23333303, ECO:0000269|PubMed:25555158, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:32494006}.
uniprot
proteins
mass_dalton
10804
uniprot
proteins
protein_family
SnRNP Sm proteins family
uniprot
proteins
pubmed
10500148
uniprot
proteins
pubmed
11574479
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12975319
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146077
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16314521
uniprot
proteins
pubmed
18984161
uniprot
proteins
pubmed
19325628
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21516107
uniprot
proteins
pubmed
21816274
uniprot
proteins
pubmed
23246290
uniprot
proteins
pubmed
23333303
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2440864
uniprot
proteins
pubmed
25555158
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
2972723
uniprot
proteins
pubmed
2974536
uniprot
proteins
pubmed
31799625
uniprot
proteins
pubmed
32494006
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
36797247
uniprot
proteins
sequence_length
92
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:11574479, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:23246290, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. {ECO:0000305}.
uniprot
proteins