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    NLE1 notchless homolog 1 [ Homo sapiens (human) ]

    Gene ID: 54475, updated on 17-Jun-2019

    Summary

    Official Symbol
    NLE1provided by HGNC
    Official Full Name
    notchless homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:19889
    See related
    Ensembl:ENSG00000073536
    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
    Expression
    Ubiquitous expression in testis (RPKM 6.4), ovary (RPKM 4.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See NLE1 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35128730..35142304, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33458368..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 RAD51 paralog D Neighboring gene fibronectin type III domain containing 8 Neighboring gene unc-45 myosin chaperone B Neighboring gene Spi-C transcription factor (Spi-1/PU.1 related) pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10458

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    inner cell mass cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ribosomal large subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    notchless protein homolog 1
    Names
    Notchless gene homolog

    NCBI Reference Sequences (RefSeq)

    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
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      35128730..35142304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024777.1XP_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]
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