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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
  • LAS1-Like (S. Cerevisiae) 2
  • Las1-Like 3
  • DJ475B7.2 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 spinal muscular atrophy with respiratory distress type 2. Among its related pathways are Gene Expression and rRNA processing. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAS1L Gene

Genomics for LAS1L Gene

Regulatory Elements for LAS1L Gene

Promoters for LAS1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAS1L on UCSC Golden Path with GeneCards custom track

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

Proteomics data for LAS1L Gene at MOPED

Post-translational modifications for LAS1L Gene

  • Ubiquitination at Lys 31, Lys 64, Lys 98, Lys 139, Lys 263, Lys 286, Lys 295, Lys 312, Lys 365, Lys 376, Lys 486, Lys 499, Lys 540, and Lys 691
  • Modification sites at PhosphoSitePlus

Other Protein References for LAS1L Gene

Antibody Products

No data available for DME Specific Peptides for LAS1L Gene

Domains & 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

No data available for Gene Families for LAS1L Gene

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.
genes like me logo Genes that share phenotypes with LAS1L: view

Animal Model Products

miRNA for LAS1L Gene

miRTarBase miRNAs that target LAS1L

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for LAS1L Gene COMPARTMENTS Subcellular localization image for LAS1L gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for LAS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
GO:0071339 MLL1 complex IDA 15960975
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

Pathways by source for LAS1L Gene

Gene Ontology (GO) - Biological Process for LAS1L Gene

None

No data available for SIGNOR curated interactions for LAS1L Gene

Drugs & Compounds for LAS1L Gene

No Compound Related Data Available

Transcripts for LAS1L Gene

Unigene Clusters for LAS1L Gene

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

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 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, MOPED, and MaxQB for LAS1L Gene



SOURCE GeneReport for Unigene cluster for LAS1L Gene Hs.522675

genes like me logo Genes that share expression patterns with LAS1L: view

Protein tissue co-expression partners for LAS1L Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 91.33 (n)
  • 89.39 (a)
LAS1L 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAS1L 36
  • 75 (a)
OneToOne
LAS1L 35
  • 87.71 (n)
  • 82.49 (a)
dog
(Canis familiaris)
Mammalia LAS1L 35
  • 87.63 (n)
  • 85.27 (a)
LAS1L 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Las1l 36
  • 67 (a)
OneToOne
Las1l 16
Las1l 35
  • 78.94 (n)
  • 73.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia LAS1L 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Las1l 35
  • 79.19 (n)
  • 71.15 (a)
chicken
(Gallus gallus)
Aves LAS1L 36
  • 38 (a)
OneToOne
LAS1L 35
  • 54.08 (n)
  • 42.07 (a)
lizard
(Anolis carolinensis)
Reptilia LAS1L 36
  • 42 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.28968 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.751 35
zebrafish
(Danio rerio)
Actinopterygii las1l 36
  • 37 (a)
OneToOne
LOC561321 35
  • 51.73 (n)
  • 41.8 (a)
worm
(Caenorhabditis elegans)
Secernentea Y6B3B.9 36
  • 21 (a)
OneToOne
Species with no ortholog for LAS1L:
  • 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
rs2747381 -- 65,519,577(+) GATGA(A/C)ACTGT intron-variant
rs2747382 -- 65,519,597(+) AGACG(A/G)CGCCA intron-variant
rs6524991 -- 65,525,561(+) CCATA(A/G)GCCTT intron-variant
rs6524993 -- 65,532,884(+) ATAAT(A/C)ATGAT intron-variant, upstream-variant-2KB

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

HapMap Linkage Disequilibrium report
LAS1L
Human Gene Mutation Database (HGMD)
LAS1L

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

Disorders for LAS1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAS1L Gene - From: Orphanet

Disorder Aliases PubMed IDs
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

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 UniProtKB/Swiss-Prot and 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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3

Products for LAS1L Gene

Sources for LAS1L Gene

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