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Aliases for LAS1L Gene

Aliases for LAS1L Gene

  • LAS1 Like, Ribosome Biogenesis Factor 2 3 5
  • Protein LAS1 Homolog 3 4
  • Ribosomal Biogenesis Protein LAS1L 3
  • LAS1-Like (S. Cerevisiae) 2
  • Las1-Like 3
  • DJ475B7.2 3
  • WTS 3

External Ids for LAS1L Gene

Previous GeneCards Identifiers for LAS1L Gene

  • GC0XM064516
  • GC0XM064649
  • GC0XM058560

Summaries for LAS1L Gene

GeneCards Summary for LAS1L Gene

LAS1L (LAS1 Like, Ribosome Biogenesis Factor) is a Protein Coding gene. Diseases associated with LAS1L include Wilson-Turner Syndrome and Spinal Muscular Atrophy With Respiratory Distress Type 2. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for LAS1L Gene

  • 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.

Gene Wiki entry for LAS1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAS1L Gene

Genomics for LAS1L Gene

Regulatory Elements for LAS1L Gene

Enhancers for LAS1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG065595 1.6 FANTOM5 Ensembl ENCODE 3.7 -62.2 -62244 4.0 HDGF PKNOX1 ATF1 WRNIP1 SIN3A BRCA1 TCF12 GATA2 CBX5 ZNF143 LAS1L MSN GC0XM065596
GH0XG065587 0.8 Ensembl ENCODE 3.5 -53.6 -53637 2.4 ARID1B NFIC ZBTB11 ATF2 RBFOX2 GABPA ZNF592 LAS1L MSN GC0XM065596
GH0XG065407 0.3 FANTOM5 3.8 +127.4 127420 0.2 LAS1L MSN TLE1P1 PIR37197
GH0XG065533 1.1 ENCODE 0.7 +0.5 459 2.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 LAS1L LOC645388
GH0XG065127 0.2 ENCODE 3.7 +407.1 407057 0.8 LAS1L LOC100533843 ZC3H12B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAS1L on UCSC Golden Path with GeneCards custom track

Promoters for LAS1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246855 306 1801 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207

Genomic Location for LAS1L Gene

Chromosome:
X
Start:
65,512,582 bp from pter
End:
65,534,806 bp from pter
Size:
22,225 bases
Orientation:
Minus strand

Genomic View for LAS1L Gene

Genes around LAS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAS1L Gene

Proteins for LAS1L Gene

  • Protein details for LAS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4W2-LAS1L_HUMAN
    Recommended name:
    Ribosomal biogenesis protein LAS1L
    Protein Accession:
    Q9Y4W2
    Secondary Accessions:
    • A9X410
    • Q5JXQ0
    • Q8TEN5
    • Q9H9V5

    Protein attributes for LAS1L Gene

    Size:
    734 amino acids
    Molecular mass:
    83065 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB84913.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for LAS1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAS1L Gene

Post-translational modifications for LAS1L Gene

  • Ubiquitination at isoforms=2, 3, 431, isoforms=2, 3, 464, isoforms=2, 498, isoforms=2, 3, 4139, isoforms=2, 3, 4263, isoforms=2, 3286, posLast=295295, posLast=312312, isoforms=365, isoforms=2, 3376, posLast=486486, posLast=499499, isoforms=2, 3540, and isoforms=2, 3691
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LAS1L Gene

Domains & Families for LAS1L Gene

Gene Families for LAS1L Gene

Protein Domains for LAS1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAS1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4W2

UniProtKB/Swiss-Prot:

LAS1L_HUMAN :
  • Belongs to the LAS1 family.
Family:
  • Belongs to the LAS1 family.
genes like me logo Genes that share domains with LAS1L: view

Function for LAS1L Gene

Molecular function for LAS1L Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for LAS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with LAS1L: view
genes like me logo Genes that share phenotypes with LAS1L: view

Human Phenotype Ontology for LAS1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for LAS1L Gene

miRTarBase miRNAs that target LAS1L

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LAS1L Gene

Localization for LAS1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAS1L Gene

Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAS1L gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LAS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LAS1L: view

Pathways & Interactions for LAS1L Gene

genes like me logo Genes that share pathways with LAS1L: view

Gene Ontology (GO) - Biological Process for LAS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with LAS1L: view

No data available for SIGNOR curated interactions for LAS1L Gene

Transcripts for LAS1L Gene

Unigene Clusters for LAS1L Gene

LAS1-like (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAS1L Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b ·
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6: - -
SP7: - -
SP8: - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - -
SP12:
SP13:
SP14: - - - -
SP15:
SP16:
SP17:

ExUns: 16c ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - -
SP9: - - -
SP10:
SP11:
SP12: -
SP13: -
SP14: -
SP15:
SP16:
SP17:

Relevant External Links for LAS1L Gene

GeneLoc Exon Structure for
LAS1L
ECgene alternative splicing isoforms for
LAS1L

Expression for LAS1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAS1L Gene

Protein differential expression in normal tissues from HIPED for LAS1L Gene

This gene is overexpressed in Bone (13.5) and Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAS1L Gene



Protein tissue co-expression partners for LAS1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAS1L Gene:

LAS1L

SOURCE GeneReport for Unigene cluster for LAS1L Gene:

Hs.522675

Evidence on tissue expression from TISSUES for LAS1L Gene

  • Lung(4.8)
  • Nervous system(4.5)
  • Liver(4.3)
  • Spleen(4.3)
  • Bone marrow(4.2)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with LAS1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAS1L Gene

Orthologs for LAS1L Gene

This gene was present in the common ancestor of animals.

Orthologs for LAS1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAS1L 34 35
  • 91.33 (n)
cow
(Bos Taurus)
Mammalia LAS1L 34 35
  • 87.71 (n)
dog
(Canis familiaris)
Mammalia LAS1L 34 35
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Las1l 34
  • 79.19 (n)
mouse
(Mus musculus)
Mammalia Las1l 34 16 35
  • 78.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 46 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LAS1L 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAS1L 34 35
  • 54.08 (n)
lizard
(Anolis carolinensis)
Reptilia LAS1L 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.751 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.28968 34
zebrafish
(Danio rerio)
Actinopterygii LOC561321 34
  • 51.73 (n)
las1l 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y6B3B.9 35
  • 21 (a)
OneToOne
Species where no ortholog for LAS1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAS1L Gene

ENSEMBL:
Gene Tree for LAS1L (if available)
TreeFam:
Gene Tree for LAS1L (if available)

Paralogs for LAS1L Gene

No data available for Paralogs for LAS1L Gene

Variants for LAS1L Gene

Sequence variations from dbSNP and Humsavar for LAS1L Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036587 A colorectal cancer sample
VAR_077824 Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]
VAR_077825 Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585]
rs1057518699 Likely pathogenic 65,524,113(-) GGATC(C/T)GGCCT nc-transcript-variant, reference, missense
rs797044926 Likely pathogenic 65,523,578(-) GGCCA(A/G)CCCCC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LAS1L Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354

Variation tolerance for LAS1L Gene

Residual Variation Intolerance Score: 9.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAS1L Gene

Human Gene Mutation Database (HGMD)
LAS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAS1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAS1L Gene

Disorders for LAS1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for LAS1L Gene - From: ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
wilson-turner syndrome
  • wilson-turner x-linked mental retardation syndrome
spinal muscular atrophy with respiratory distress type 2
  • diaphragmatic spinal muscular atrophy type 2
mental retardation, x-linked, syndromic, wilson-turner type
  • wilson-turner syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LAS1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAS1L_HUMAN
  • Wilson-Turner X-linked mental retardation syndrome (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 mutations affecting the gene represented in this entry.

Relevant External Links for LAS1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAS1L
genes like me logo Genes that share disorders with LAS1L: view

No data available for Genatlas for LAS1L Gene

Publications for LAS1L Gene

  1. LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis. (PMID: 22190735) Castle C.D. … Denicourt C. (Mol. Biol. Cell 2012) 2 3 64
  2. Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis. (PMID: 20647540) Castle C.D. … Denicourt C. (Mol. Cell. Biol. 2010) 3 4 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4 64

Products for LAS1L Gene

Sources for LAS1L Gene

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