LAS1L
entrez
81887
canonical
uniprot
Q9Y4W2
canonical
ensembl
ENSG00000001497
resolver
ensp
ENSP00000363937
resolver
ensp
ENSP00000363940
resolver
ensp
ENSP00000363944
resolver
ensp
ENSP00000503577
resolver
ensp
ENSP00000503795
resolver
ensp
ENSP00000504653
resolver
ensp
ENSP00000537090
resolver
ensp
ENSP00000537093
resolver
ensp
ENSP00000537096
resolver
ensp
ENSP00000670552
resolver
ensp
ENSP00000670553
resolver
ensp
ENSP00000670554
resolver
ensp
ENSP00000670555
resolver
ensp
ENSP00000670556
resolver
ensp
ENSP00000670557
resolver
ensp
ENSP00000670558
resolver
ensp
ENSP00000715215
resolver
ensp
ENSP00000715228
resolver
ensp
ENSP00000783552
resolver
enst
ENST00000676986
resolver
enst
ENST00000678823
resolver
enst
ENST00000678956
resolver
genesymbol
LAS1L
resolver
hgnc
HGNC:25726
resolver
uniprot
A0A7I2V3R6
resolver
uniprot
A0A7I2V653
resolver
uniprot
A0A7I2YQI7
resolver
uniprot
A9X410
resolver
uniprot
Q5JXQ0
resolver
uniprot
Q8TEN5
resolver
uniprot
Q9H9V5
resolver
uniprot_entry
A0A7I2V3R6_HUMAN
resolver
uniprot_entry
A0A7I2V653_HUMAN
resolver
uniprot_entry
A0A7I2YQI7_HUMAN
resolver
uniprot_entry
LAS1L_HUMAN
resolver
uniprot_sec
A9X410
resolver
uniprot_sec
Q5JXQ0
resolver
uniprot_sec
Q8TEN5
resolver
uniprot_sec
Q9H9V5
resolver
amino_acid_sequence
MSWESGAGPGLGSQGMDLVWSAWYGKCVKGKGSLPLSAHGIVVAWLSRAEWDQVTVYLFCDDHKLQRYALNRITVWRSRSGNELPLAVASTADLIRCKLLDVTGGLGTDELRLLYGMALVRFVNLISERKTKFAKVPLKCLAQEVNIPDWIVDLRHELTHKKMPHINDCRRGCYFVLDWLQKTYWCRQLENSLRETWELEEFREGIEEEDQEEDKNIVVDDITEQKPEPQDDGKSTESDVKADGDSKGSEEVDSHCKKALSHKELYERARELLVSYEEEQFTVLEKFRYLPKAIKAWNNPSPRVECVLAELKGVTCENREAVLDAFLDDGFLVPTFEQLAALQIEYEDGQTEVQRGEGTDPKSHKNVDLNDVLVPKPFSQFWQPLLRGLHSQNFTQALLERMLSELPALGISGIRPTYILRWTVELIVANTKTGRNARRFSAGQWEARRGWRLFNCSASLDWPRMVESCLGSPCWASPQLLRIIFKAMGQGLPDEEQEKLLRICSIYTQSGENSLVQEGSEASPIGKSPYTLDSLYWSVKPASSSFGSEAKAQQQEEQGSVNDVKEEEKEEKEVLPDQVEEEEENDDQEEEEEDEDDEDDEEEDRMEVGPFSTGQESPTAENARLLAQKRGALQGSAWQVSSEDVRWDTFPLGRMPGQTEDPAELMLENYDTMYLLDQPVLEQRLEPSTCKTDTLGLSCGVGSGNCSNSSSSNFEGLLWSQGQLHGLKTGLQLF
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type (WTS) [MIM:309585]: A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. {ECO:0000269|PubMed:25644381}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Required for the synthesis of the 60S ribosomal subunit and maturation of the 28S rRNA (PubMed:20647540). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Required for the efficient pre-rRNA processing at both ends of internal transcribed spacer 2 (ITS2) (PubMed:22083961). {ECO:0000269|PubMed:20647540, ECO:0000269|PubMed:22083961, ECO:0000269|PubMed:22872859}.
uniprot
proteins
mass_dalton
83065
uniprot
proteins
protein_family
LAS1 family
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15960975
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17623809
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20647540
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22083961
uniprot
proteins
pubmed
22872859
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25644381
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31288032
uniprot
proteins
sequence_length
734
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20647540}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:A2BE28}. Cytoplasm {ECO:0000250|UniProtKB:A2BE28}. Note=Mainly found in the nucleoplasm, with low levels detected in the cytoplasmic and chromatin fractions (By similarity). Localizes mainly to the granular component, the region implicated in the later steps of rRNA processing and subunit assembly and export. {ECO:0000250|UniProtKB:A2BE28}.
uniprot
proteins