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    NLE1 notchless homolog 1 [ Homo sapiens (human) ]

    Gene ID: 54475, updated on 10-Dec-2024

    Summary

    Official Symbol
    NLE1provided by HGNC
    Official Full Name
    notchless homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:19889
    See related
    Ensembl:ENSG00000073536 MIM:620924; AllianceGenome:HGNC:19889
    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
    NLE; Rsa4; HUSSY7
    Summary
    Predicted to be involved in Notch signaling pathway and ribosomal large subunit assembly. Predicted to act upstream of or within several processes, including chordate embryonic development; hematopoietic stem cell homeostasis; and regulation of signal transduction. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.4), ovary (RPKM 4.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLE1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35128730..35142303, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36076643..36090215, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33455749..33469322, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAD51L3-RFFL readthrough Neighboring gene ring finger and FYVE like domain containing E3 ubiquitin protein ligase Neighboring gene ribosomal protein L37 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33416287-33416938 Neighboring gene MPRA-validated peak2815 silencer Neighboring gene RNA, U6 small nuclear 840, pseudogene Neighboring gene RAD51 paralog D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12059 Neighboring gene fibronectin type III domain containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33468753-33469630 Neighboring gene Sharpr-MPRA regulatory region 3440/5406 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:33487621-33487791 Neighboring gene unc-45 myosin chaperone B Neighboring gene Spi-C transcription factor pseudogene 2

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner cell mass cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ribosomal large subunit biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    notchless protein homolog 1
    Names
    Notchless gene homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001014445.2NP_001014445.1  notchless protein homolog 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB209111, BE272051, BQ070427, HY320157
      Consensus CDS
      CCDS45647.1
      UniProtKB/Swiss-Prot
      Q9NVX2
      Related
      ENSP00000466588.1, ENST00000586869.5
      Conserved Domains (3) summary
      COG2319
      Location:50191
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:50191
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:4178
      7WD40; WD40 repeat [structural motif]
    2. NM_018096.5NP_060566.2  notchless protein homolog 1 isoform a

      See identical proteins and their annotated locations for NP_060566.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC022916, BC012075, BI911995, BP244661, BQ070427, HY320157
      Consensus CDS
      CCDS11291.1
      UniProtKB/Swiss-Prot
      O60868, Q59GJ8, Q9BU54, Q9NVX2
      Related
      ENSP00000413572.3, ENST00000442241.9
      Conserved Domains (4) summary
      COG2319
      Location:107485
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:106484
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam08154
      Location:1777
      NLE; NLE (NUC135) domain
      sd00039
      Location:159197
      7WD40; WD40 repeat [structural motif]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35128730..35142303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024777.2XP_016880266.1  notchless protein homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9NVX2
      Conserved Domains (3) summary
      COG2319
      Location:50191
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:50191
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:4178
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      36076643..36090215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316529.1XP_054172504.1  notchless protein homolog 1 isoform X1