Aliases for LAS1L Gene

Aliases for LAS1L Gene

  • LAS1 Like, Ribosome Biogenesis Factor 2 3 5
  • Ribosomal Biogenesis Protein LAS1L 3 4
  • Protein LAS1 Homolog 3 4
  • 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 X-Linked Mental Retardation Syndrome and Spinal Muscular Atrophy With Respiratory Distress Type 2. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for LAS1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAS1L Gene

Genomics for LAS1L Gene

GeneHancer (GH) Regulatory Elements for LAS1L Gene

Promoters and enhancers for LAS1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ065533 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 754.3 +0.6 575 2.9 FOXK2 SP1 ZBTB40 SIX5 RBPJ POLR2A CTBP1 ATF1 FOS CREB1 LAS1L lnc-ZC3H12B-19 ENSG00000217835 RF00017-8477 lnc-ZC3H12B-2
GH0XJ065536 Enhancer 0.3 ENCODE 750.6 -1.7 -1690 0.2 RFX1 LAS1L lnc-ZC3H12B-19 piR-40176-034 lnc-ZC3H12B-2
GH0XJ066006 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -480.3 -480348 16.4 SMARCE1 RUNX1 MYC CC2D1A ETV6 RELA L3MBTL2 MAX DACH1 TEAD4 ENSG00000274536 ENSG00000217835 VSIG4 LAS1L MSN HEPH MIR223 5MWI_A-205
GH0XJ065702 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.3 -170.6 -170610 5.6 ZNF133 ETV6 RAD21 CTCF CREM IKZF1 GLIS2 ZIC2 IKZF2 ZNF629 LAS1L CCT4P2 MSN lnc-ZC3H12B-7 NONHSAG054658.2
GH0XJ065406 Promoter/Enhancer 0.6 FANTOM5 Ensembl 13.4 +127.4 127405 2 ZNF133 TLE1P1 piR-61945-536 LAS1L CCT4P2 MSN lnc-ZC3H12B-18 ZC3H12B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAS1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAS1L gene promoter:
  • AML1a
  • c-Myb
  • Evi-1
  • FAC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Pax-5
  • TBP

Genomic Locations for LAS1L Gene

Genomic Locations for LAS1L Gene
chrX:65,512,582-65,534,806
(GRCh38/hg38)
Size:
22,225 bases
Orientation:
Minus strand
chrX:64,732,462-64,754,686
(GRCh37/hg19)
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 Lys31, Lys64, Lys139, Lys98, Lys263, Lys286, Lys295, Lys312, Lys376, Lys365, Lys486, Lys499, Lys540, and Lys691
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LAS1L Gene

Domains & Families for LAS1L Gene

Gene Families for LAS1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LAS1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAS1L Gene

GenScript: Design optimal peptide antigens:
  • Protein LAS1 homolog (LAS1L_HUMAN)

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 HDA 22658674
GO:0004519 endonuclease activity IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAS1L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Microtubule organizing center (2)
See all subcellular structures

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 HDA 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:0000460 maturation of 5.8S rRNA IBA 21873635
GO:0000470 maturation of LSU-rRNA IBA 21873635
GO:0006364 rRNA processing TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with LAS1L: view

No data available for SIGNOR curated interactions for LAS1L Gene

Drugs & Compounds for LAS1L Gene

No Compound Related Data Available

Transcripts for LAS1L Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAS1L

Clone 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, 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

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 33 32
  • 91.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LAS1L 33 32
  • 87.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAS1L 33 32
  • 87.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Las1l 32
  • 79.19 (n)
mouse
(Mus musculus)
Mammalia Las1l 17 33 32
  • 78.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 46 (a)
OneToMany
-- 33
  • 43 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LAS1L 33
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAS1L 33 32
  • 54.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAS1L 33
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.751 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.28968 32
zebrafish
(Danio rerio)
Actinopterygii LOC561321 32
  • 51.73 (n)
las1l 33
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y6B3B.9 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LAS1L: view image

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 Variation AA Info Type
rs1057518699 likely-pathogenic, Global developmental delay, Wilson-Turner X-linked mental retardation syndrome (WTS) [MIM:309585] 65,524,113(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1371889606 A colorectal cancer sample 65,531,363(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs137948118 uncertain-significance, Wilson-Turner X-linked mental retardation syndrome 65,528,276(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs144560954 likely-benign, Wilson-Turner X-linked mental retardation syndrome 65,534,557(-) C/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs148989578 likely-benign, Wilson-Turner X-linked mental retardation syndrome 65,518,223(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for LAS1L Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LAS1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAS1L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
wilson-turner x-linked mental retardation syndrome
  • wts
spinal muscular atrophy with respiratory distress type 2
  • diaphragmatic spinal muscular atrophy type 2
- 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.

Additional Disease Information for 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 CD … Denicourt C (Molecular biology of the cell 2012) 2 3 56
  2. Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis. (PMID: 20647540) Castle CD … Denicourt C (Molecular and cellular biology 2010) 3 4 56
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 56
  5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y … Roeder RG (Cell 2005) 3 4 56

Products for LAS1L Gene

Sources for LAS1L Gene