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Protein

Ribosomal biogenesis protein LAS1L

Gene

LAS1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. 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.2 Publications

GO - Molecular functioni

  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processrRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.

Names & Taxonomyi

Protein namesi
Recommended name:
Ribosomal biogenesis protein LAS1L
Alternative name(s):
Protein LAS1 homolog
Gene namesi
Name:LAS1L
ORF Names:MSTP060
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000001497.16.
HGNCiHGNC:25726. LAS1L.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Wilson-Turner X-linked mental retardation syndrome (WTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:309585
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077824269A → G in WTS; unknown pathological significance. 1 Publication1
Natural variantiVAR_077825415R → W in WTS; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi81887.
MalaCardsiLAS1L.
MIMi309585. phenotype.
OpenTargetsiENSG00000001497.
Orphaneti404521. Spinal muscular atrophy with respiratory distress type 2.
PharmGKBiPA128394732.

Polymorphism and mutation databases

BioMutaiLAS1L.
DMDMi73920837.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002115591 – 734Ribosomal biogenesis protein LAS1LAdd BLAST734

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki215Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki226Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei441PhosphoserineCombined sources1
Modified residuei523PhosphoserineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei617PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y4W2.
PaxDbiQ9Y4W2.
PeptideAtlasiQ9Y4W2.
PRIDEiQ9Y4W2.

2D gel databases

SWISS-2DPAGEiQ9Y4W2.

PTM databases

iPTMnetiQ9Y4W2.
PhosphoSitePlusiQ9Y4W2.

Expressioni

Gene expression databases

BgeeiENSG00000001497.
CleanExiHS_LAS1L.
ExpressionAtlasiQ9Y4W2. baseline and differential.
GenevisibleiQ9Y4W2. HS.

Organism-specific databases

HPAiHPA044431.
HPA061463.

Interactioni

Subunit structurei

Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the 5FMC complex, at least composed of PELP1, LAS1L, TEX10, WDR18 and SENP3; the complex interacts with methylated CHTOP and ZNF148.2 Publications

Protein-protein interaction databases

BioGridi123620. 32 interactors.
CORUMiQ9Y4W2.
ELMiQ9Y4W2.
IntActiQ9Y4W2. 33 interactors.
MINTiMINT-4728360.
STRINGi9606.ENSP00000363944.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4W2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LAS1 family.Curated

Phylogenomic databases

eggNOGiKOG2425. Eukaryota.
ENOG411230Q. LUCA.
GeneTreeiENSGT00390000014785.
HOGENOMiHOG000232090.
HOVERGENiHBG080556.
InParanoidiQ9Y4W2.
KOiK16912.
OMAiPFSQFWQ.
OrthoDBiEOG091G04XI.
PhylomeDBiQ9Y4W2.
TreeFamiTF314042.

Family and domain databases

Gene3Di3.90.810.10. 1 hit.
InterProiView protein in InterPro
IPR000095. CRIB_dom.
IPR007174. Las1.
PANTHERiPTHR15002. PTHR15002. 1 hit.
PfamiView protein in Pfam
PF04031. Las1. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4W2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSWESGAGPG LGSQGMDLVW SAWYGKCVKG KGSLPLSAHG IVVAWLSRAE
60 70 80 90 100
WDQVTVYLFC DDHKLQRYAL NRITVWRSRS GNELPLAVAS TADLIRCKLL
110 120 130 140 150
DVTGGLGTDE LRLLYGMALV RFVNLISERK TKFAKVPLKC LAQEVNIPDW
160 170 180 190 200
IVDLRHELTH KKMPHINDCR RGCYFVLDWL QKTYWCRQLE NSLRETWELE
210 220 230 240 250
EFREGIEEED QEEDKNIVVD DITEQKPEPQ DDGKSTESDV KADGDSKGSE
260 270 280 290 300
EVDSHCKKAL SHKELYERAR ELLVSYEEEQ FTVLEKFRYL PKAIKAWNNP
310 320 330 340 350
SPRVECVLAE LKGVTCENRE AVLDAFLDDG FLVPTFEQLA ALQIEYEDGQ
360 370 380 390 400
TEVQRGEGTD PKSHKNVDLN DVLVPKPFSQ FWQPLLRGLH SQNFTQALLE
410 420 430 440 450
RMLSELPALG ISGIRPTYIL RWTVELIVAN TKTGRNARRF SAGQWEARRG
460 470 480 490 500
WRLFNCSASL DWPRMVESCL GSPCWASPQL LRIIFKAMGQ GLPDEEQEKL
510 520 530 540 550
LRICSIYTQS GENSLVQEGS EASPIGKSPY TLDSLYWSVK PASSSFGSEA
560 570 580 590 600
KAQQQEEQGS VNDVKEEEKE EKEVLPDQVE EEEENDDQEE EEEDEDDEDD
610 620 630 640 650
EEEDRMEVGP FSTGQESPTA ENARLLAQKR GALQGSAWQV SSEDVRWDTF
660 670 680 690 700
PLGRMPGQTE DPAELMLENY DTMYLLDQPV LEQRLEPSTC KTDTLGLSCG
710 720 730
VGSGNCSNSS SSNFEGLLWS QGQLHGLKTG LQLF
Length:734
Mass (Da):83,065
Last modified:August 30, 2005 - v2
Checksum:iA35CC38F95C39F7D
GO
Isoform 2 (identifier: Q9Y4W2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     348-365: DGQTEVQRGEGTDPKSHK → E

Show »
Length:717
Mass (Da):81,243
Checksum:i651B7F0FFB3FD07F
GO
Isoform 3 (identifier: Q9Y4W2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-120: Missing.
     348-365: DGQTEVQRGEGTDPKSHK → E

Note: Gene prediction based on EST data. No experimental confirmation available.
Show »
Length:675
Mass (Da):76,845
Checksum:iEC904EABA17F0028
GO
Isoform 4 (identifier: Q9Y4W2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-291: VLEKFRYLP → GGCAGCFSG
     292-734: Missing.

Show »
Length:291
Mass (Da):33,108
Checksum:i500B863F92E96866
GO

Sequence cautioni

The sequence BAB84913 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036587170R → C in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_077824269A → G in WTS; unknown pathological significance. 1 Publication1
Natural variantiVAR_077825415R → W in WTS; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01517879 – 120Missing in isoform 3. CuratedAdd BLAST42
Alternative sequenceiVSP_015179283 – 291VLEKFRYLP → GGCAGCFSG in isoform 4. 1 Publication9
Alternative sequenceiVSP_015180292 – 734Missing in isoform 4. 1 PublicationAdd BLAST443
Alternative sequenceiVSP_015181348 – 365DGQTE…PKSHK → E in isoform 2 and isoform 3. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF116730 mRNA. Translation: AAO15306.1.
AK074087 mRNA. Translation: BAB84913.1. Different initiation.
AK022587 mRNA. Translation: BAB14114.1.
AL050306 Genomic DNA. Translation: CAB51351.1.
AL050306 Genomic DNA. Translation: CAI42835.1.
AL050306 Genomic DNA. Translation: CAI42836.1.
BC014545 mRNA. Translation: AAH14545.1.
BC018610 mRNA. Translation: AAH18610.1.
BC019302 mRNA. Translation: AAH19302.1.
DQ323624 mRNA. Translation: ABD39127.1.
CCDSiCCDS14381.1. [Q9Y4W2-1]
CCDS55433.1. [Q9Y4W2-3]
CCDS55434.1. [Q9Y4W2-2]
RefSeqiNP_001164120.1. NM_001170649.1. [Q9Y4W2-2]
NP_001164121.1. NM_001170650.1. [Q9Y4W2-3]
NP_112483.1. NM_031206.4. [Q9Y4W2-1]
UniGeneiHs.522675.

Genome annotation databases

EnsembliENST00000374804; ENSP00000363937; ENSG00000001497. [Q9Y4W2-3]
ENST00000374807; ENSP00000363940; ENSG00000001497. [Q9Y4W2-2]
ENST00000374811; ENSP00000363944; ENSG00000001497. [Q9Y4W2-1]
ENST00000484069; ENSP00000473471; ENSG00000001497. [Q9Y4W2-4]
GeneIDi81887.
KEGGihsa:81887.
UCSCiuc004dwa.3. human. [Q9Y4W2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLAS1L_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4W2
Secondary accession number(s): A9X410
, Q5JXQ0, Q8TEN5, Q9H9V5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: September 27, 2017
This is version 144 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families