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    LAS1L LAS1 like ribosome biogenesis factor [ Homo sapiens (human) ]

    Gene ID: 81887, updated on 3-Nov-2024

    Summary

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    Official Symbol
    LAS1Lprovided by HGNC
    Official Full Name
    LAS1 like ribosome biogenesis factorprovided by HGNC
    Primary source
    HGNC:HGNC:25726
    See related
    Ensembl:ENSG00000001497 MIM:300964; AllianceGenome:HGNC:25726
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WTS; Las1; MRXSWTS; Las1-like; dJ475B7.2
    Summary
    Enables RNA binding activity. Involved in rRNA processing. Located in nucleolus. Part of MLL1 complex. Implicated in Wilson-Turner syndrome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LAS1L in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (65512582..65534787, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (63939027..63961232, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (64732462..64754667, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 12B Neighboring gene NANOG hESC enhancer GRCh37_chrX:64658617-64659137 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:64683306-64683834 Neighboring gene TLE family member 1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:64713210-64713789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:64722192-64722692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:64722693-64723193 Neighboring gene AP1M2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29713 Neighboring gene FERM domain containing 8 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20881 Neighboring gene moesin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29715 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:64924017-64924189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29716 Neighboring gene Sharpr-MPRA regulatory region 13592

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis. Castle CD, et al. Mol Cell Biol, 2010 Sep. PMID 20647540, Free PMC Article
    2. Nol9 Is a Spatial Regulator for the Human ITS2 Pre-rRNA Endonuclease-Kinase Complex. Gordon J, et al. J Mol Biol, 2019 Sep 6. PMID 31288032, Free PMC Article
    3. Inhibiting β-catenin disables nucleolar functions in triple-negative breast cancer. Weeks SE, et al. Cell Death Dis, 2021 Mar 4. PMID 33664239, Free PMC Article
    4. Involvement of the tubulin tyrosine ligase-like family member 4 polyglutamylase in PELP1 polyglutamylation and chromatin remodeling in pancreatic cancer cells. Kashiwaya K, et al. Cancer Res, 2010 May 15. PMID 20442285
    5. LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis. Castle CD, et al. Mol Biol Cell, 2012 Feb. PMID 22190735, Free PMC Article

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibiting beta-catenin disables nucleolar functions in triple-negative breast cancer.
      Title: Inhibiting β-catenin disables nucleolar functions in triple-negative breast cancer.
    2. Recruitment of the protein complex 5FMC to Zbp-89, a zinc-finger transcription factor, affects its sumoylation status and transactivation potential.[5FMC]
      Title: Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation.
    3. LAS1L interacts with PELP1, TEX10, and WDR18, the mammalian homologues of the budding yeast Rix1 complex, along with NOL9 and SENP3, to form a novel nucleolar complex that cofractionates with the 60S preribosomal subunit.
      Title: LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis.
    4. Analysis of high-molecular-weight RNAs confirmed that Las1L is required for ITS2 processing,which separates the 5.8S and 25S/28S rRNAs, as 32S was found to accumulate and 12S to diminish upon Las1L depletion.
      Title: The evolutionarily conserved protein Las1 is required for pre-rRNA processing at both ends of ITS2.
    5. Data demonstrate that Las1L is essential for cell proliferation and biogenesis of the 60S ribosomal subunit.
      Title: Las1L is a nucleolar protein required for cell proliferation and ribosome biogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Wilson-Turner syndrome
    MedGen: C1839736 OMIM: 309585 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12525, FLJ30133, FLJ45274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of LSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Las1 complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ribosomal biogenesis protein LAS1L
    Names
    endoribonuclease LAS1L
    protein LAS1 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016369.1 RefSeqGene

      Range
      5020..27225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170649.2 → NP_001164120.1  ribosomal biogenesis protein LAS1L isoform 2

      See identical proteins and their annotated locations for NP_001164120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF116730, DA619280
      Consensus CDS
      CCDS55434.1
      UniProtKB/TrEMBL
      A0A7I2V3Q3
      Related
      ENSP00000363940.5, ENST00000374807.9
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    2. NM_001170650.2 → NP_001164121.1  ribosomal biogenesis protein LAS1L isoform 3

      See identical proteins and their annotated locations for NP_001164121.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AF116730, DA619280
      Consensus CDS
      CCDS55433.1
      UniProtKB/TrEMBL
      A0A7I2V4E5
      Related
      ENSP00000363937.5, ENST00000374804.9
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 145
      Las1; Las1-like

    3. NM_001375328.1 → NP_001362257.1  ribosomal biogenesis protein LAS1L isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V3Q3
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    4. NM_001375329.1 → NP_001362258.1  ribosomal biogenesis protein LAS1L isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V5R7
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    5. NM_001375330.1 → NP_001362259.1  ribosomal biogenesis protein LAS1L isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V5R7
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    6. NM_001375331.1 → NP_001362260.1  ribosomal biogenesis protein LAS1L isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL050306
      Consensus CDS
      CCDS94620.1
      UniProtKB/TrEMBL
      A0A7I2V3R6, A0A7I2V5R7
      Related
      ENSP00000503577.1, ENST00000676986.1
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    7. NM_001375332.1 → NP_001362261.1  ribosomal biogenesis protein LAS1L isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL050306

    8. NM_001375333.1 → NP_001362262.1  ribosomal biogenesis protein LAS1L isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V3Q3
      Related
      ENSP00000503410.1, ENST00000677969.1
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    9. NM_001375334.1 → NP_001362263.1  ribosomal biogenesis protein LAS1L isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL050306
      Consensus CDS
      CCDS94622.1
      UniProtKB/TrEMBL
      A0A7I2V5R7, A0A7I2V653
      Related
      ENSP00000504653.1, ENST00000678956.1
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    10. NM_001375335.1 → NP_001362264.1  ribosomal biogenesis protein LAS1L isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL050306
      Consensus CDS
      CCDS94622.1
      UniProtKB/TrEMBL
      A0A7I2V5R7, A0A7I2V653
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    11. NM_001375336.1 → NP_001362265.1  ribosomal biogenesis protein LAS1L isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V5R7
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    12. NM_001375337.1 → NP_001362266.1  ribosomal biogenesis protein LAS1L isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL050306
      UniProtKB/TrEMBL
      A0A7I2V5R7
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    13. NM_001410733.1 → NP_001397662.1  ribosomal biogenesis protein LAS1L isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL050306
      Consensus CDS
      CCDS94621.1
      UniProtKB/TrEMBL
      A0A7I2YQI7
      Related
      ENSP00000503795.1, ENST00000678823.1

    14. NM_031206.7 → NP_112483.1  ribosomal biogenesis protein LAS1L isoform 1

      See identical proteins and their annotated locations for NP_112483.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF116730, DA619280
      Consensus CDS
      CCDS14381.1
      UniProtKB/Swiss-Prot
      A9X410, Q5JXQ0, Q8TEN5, Q9H9V5, Q9Y4W2
      UniProtKB/TrEMBL
      A0A7I2V4E5
      Related
      ENSP00000363944.3, ENST00000374811.8
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    RNA

    1. NR_164681.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL050306

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      65512582..65534787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531045.3 → XP_011529347.1  ribosomal biogenesis protein LAS1L isoform X1

      UniProtKB/TrEMBL
      A0A7I2V4E5
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 145
      Las1; Las1-like

    2. XM_047442542.1 → XP_047298498.1  ribosomal biogenesis protein LAS1L isoform X8

    3. XM_047442537.1 → XP_047298493.1  ribosomal biogenesis protein LAS1L isoform X2

    4. XM_047442540.1 → XP_047298496.1  ribosomal biogenesis protein LAS1L isoform X6

    5. XM_047442539.1 → XP_047298495.1  ribosomal biogenesis protein LAS1L isoform X5

    6. XM_047442541.1 → XP_047298497.1  ribosomal biogenesis protein LAS1L isoform X7

      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    7. XM_011531046.3 → XP_011529348.1  ribosomal biogenesis protein LAS1L isoform X3

      UniProtKB/TrEMBL
      A0A7I2V5R7
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    8. XM_047442538.1 → XP_047298494.1  ribosomal biogenesis protein LAS1L isoform X4

      UniProtKB/TrEMBL
      A0A7I2V653
      Conserved Domains (1) summary
      pfam04031
      Location:43 → 187
      Las1; Las1-like

    RNA

    1. XR_007068201.1 RNA Sequence

    2. XR_938412.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      63939027..63961232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327919.1 → XP_054183894.1  ribosomal biogenesis protein LAS1L isoform X1

    2. XM_054327926.1 → XP_054183901.1  ribosomal biogenesis protein LAS1L isoform X8

    3. XM_054327920.1 → XP_054183895.1  ribosomal biogenesis protein LAS1L isoform X2

    4. XM_054327924.1 → XP_054183899.1  ribosomal biogenesis protein LAS1L isoform X6

    5. XM_054327923.1 → XP_054183898.1  ribosomal biogenesis protein LAS1L isoform X5

    6. XM_054327925.1 → XP_054183900.1  ribosomal biogenesis protein LAS1L isoform X7

    7. XM_054327921.1 → XP_054183896.1  ribosomal biogenesis protein LAS1L isoform X3

    8. XM_054327922.1 → XP_054183897.1  ribosomal biogenesis protein LAS1L isoform X4

      UniProtKB/TrEMBL
      A0A7I2V653

    RNA

    1. XR_008485509.1 RNA Sequence

    2. XR_008485508.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4W2.2 GenPept UniProtKB/Swiss-Prot:Q9Y4W2

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