Human Gene LAS1L (ENST00000374807.9)
  Description: Homo sapiens LAS1 like ribosome biogenesis factor (LAS1L), transcript variant 9, mRNA. (from RefSeq NM_001375333)
Gencode Transcript: ENST00000374807.9
Gencode Gene: ENSG00000001497.18
Transcript (Including UTRs)
   Position: hg38 chrX:65,512,582-65,534,754 Size: 22,173 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chrX:65,512,775-65,534,715 Size: 21,941 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:65,512,582-65,534,754)mRNA (may differ from genome)Protein (717 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: LAS1L_HUMAN
DESCRIPTION: RecName: Full=Ribosomal biogenesis protein LAS1L; AltName: Full=Protein LAS1 homolog;
FUNCTION: Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA.
SUBUNIT: Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, 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.
INTERACTION: Q96T60:PNKP; NbExp=1; IntAct=EBI-1051591, EBI-1045072;
SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=localizes mainly to the granular component, the region implicated in the later steps of rRNA processing and subunit assembly and export.
SIMILARITY: Belongs to the LAS1 family.
SEQUENCE CAUTION: Sequence=BAB84913.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: LAS1L
Diseases sorted by gene-association score: wilson-turner syndrome* (1350), spinal muscular atrophy with respiratory distress type 2* (350), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.20 RPKM in Brain - Cerebellum
Total median expression: 608.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.5039-0.346 Picture PostScript Text
3' UTR -52.90193-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007174 - Las1

Pfam Domains:
PF04031 - Las1-like

ModBase Predicted Comparative 3D Structure on Q9Y4W2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding

Biological Process:
GO:0000460 maturation of 5.8S rRNA
GO:0000470 maturation of LSU-rRNA
GO:0000478 endonucleolytic cleavage involved in rRNA processing
GO:0006325 chromatin organization
GO:0006364 rRNA processing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0030687 preribosome, large subunit precursor
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  KJ906346 - Synthetic construct Homo sapiens clone ccsbBroadEn_16016 LAS1L gene, encodes complete protein.
AK225059 - Homo sapiens mRNA for Splice isoform 2 of Q9Y4W2 variant, clone: CAE03734.
AF116730 - Homo sapiens MSTP060 mRNA, complete cds.
BC019302 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:4197 IMAGE:2822893), complete cds.
BC018610 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:15569 IMAGE:3140243), complete cds.
AK127207 - Homo sapiens cDNA FLJ45274 fis, clone BRHIP3000626.
AK125760 - Homo sapiens cDNA FLJ43772 fis, clone TESTI2049576, highly similar to LAS1-like protein.
AK054817 - Homo sapiens cDNA FLJ30255 fis, clone BRACE2002444, highly similar to LAS1-like protein.
AK022587 - Homo sapiens cDNA FLJ12525 fis, clone NT2RM4000030, weakly similar to LAS1 PROTEIN.
AK097383 - Homo sapiens cDNA FLJ40064 fis, clone TESOP2000312, highly similar to LAS1-like protein.
AK074087 - Homo sapiens mRNA for FLJ00158 protein.
BC014545 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:13524 IMAGE:4079376), complete cds.
JD206770 - Sequence 187794 from Patent EP1572962.
JD519879 - Sequence 500903 from Patent EP1572962.
AK129496 - Homo sapiens cDNA FLJ25985 fis, clone CBR04040.
AK295591 - Homo sapiens cDNA FLJ55066 complete cds, highly similar to LAS1-like protein.
DQ323626 - Homo sapiens clone 35 Las1-like mRNA, partial cds.
DQ323624 - Homo sapiens clone 33 Las1-like mRNA, partial cds.
DQ323625 - Homo sapiens clone 34 Las1-like mRNA, partial cds, alternatively spliced.
CU677041 - Synthetic construct Homo sapiens gateway clone IMAGE:100017475 5' read LAS1L mRNA.
JD137131 - Sequence 118155 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y4W2 (Reactome details) participates in the following event(s):

R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A9X410, ENST00000374807.1, ENST00000374807.2, ENST00000374807.3, ENST00000374807.4, ENST00000374807.5, ENST00000374807.6, ENST00000374807.7, ENST00000374807.8, LAS1L_HUMAN, MSTP060, NM_001375333, Q5JXQ0, Q8TEN5, Q9H9V5, Q9Y4W2, uc004dwc.1, uc004dwc.2, uc004dwc.3
UCSC ID: ENST00000374807.9
RefSeq Accession: NM_001170649
Protein: Q9Y4W2 (aka LAS1L_HUMAN)
CCDS: CCDS14381.1, CCDS55434.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.