Aliases for NLE1 Gene

Aliases for NLE1 Gene

  • Notchless Homolog 1 2 3 5
  • Notchless Protein Homolog 1 3 4
  • Notchless Gene Homolog, (Drosophila) 2
  • Notchless Homolog (Drosophila) 2
  • Notchless Gene Homolog 3
  • NLE 3

External Ids for NLE1 Gene

Previous HGNC Symbols for NLE1 Gene

  • NLE

Previous GeneCards Identifiers for NLE1 Gene

  • GC17M030472
  • GC17M033458
  • GC17M029643

Summaries for NLE1 Gene

GeneCards Summary for NLE1 Gene

NLE1 (Notchless Homolog 1) is a Protein Coding gene. Diseases associated with NLE1 include Heart Block, Congenital and Meningoencephalitis.

UniProtKB/Swiss-Prot Summary for NLE1 Gene

  • Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).

Gene Wiki entry for NLE1 Gene

Additional gene information for NLE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLE1 Gene

Genomics for NLE1 Gene

GeneHancer (GH) Regulatory Elements for NLE1 Gene

Promoters and enhancers for NLE1 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
GH17J035140 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 449 2.1 HNRNPK ZNF217 EP300 CTCF SIN3A NRF1 MYC TCF12 USF1 POLR2G NLE1 LIG3 SNHG30 CCT6B ZNF830 RFFL piR-43505
GH17J035141 Promoter 0.3 Ensembl 500.7 +1.8 1814 0.2 NLE1 LIG3 piR-43505
GH17J035083 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +55.2 55152 6.6 RXRA CTCF SIN3A POLR2G NCOR1 PHF8 ZNF10 EP300 ZBTB26 SAP30 RFFL LIG3 SLFN5 ZNF830 CCT6B NLE1 RPL37P22 ENSG00000267618 RAD51L3-RFFL
GH17J035212 Enhancer 1 FANTOM5 ENCODE dbSUPER 21.6 -72.8 -72776 5.4 CUX1 OSR2 GABPA BATF NCOA2 PRDM6 ETV1 EZH2 PBX3 TRIM28 SLFN5 NLE1 SLFN12L AP2B1 SNHG30 UNC45B ZNF830 lnc-SLC35G3-3 ENSG00000266947
GH17J035237 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 -100.1 -100055 8.8 ZBTB40 EP300 CTCF SIN3A TCF12 POLR2G USF1 SP1 PHF8 JUND SLFN5 ENSG00000266947 LOC105371932 NLE1 UNC45B piR-38344-057 lnc-SLC35G3-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLE1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLE1

Top Transcription factor binding sites by QIAGEN in the NLE1 gene promoter:
  • c-Ets-1
  • CREB
  • deltaCREB
  • Nkx2-5
  • p53
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for NLE1 Gene

Genomic Locations for NLE1 Gene
chr17:35,128,730-35,142,315
(GRCh38/hg38)
Size:
13,586 bases
Orientation:
Minus strand
chr17:33,455,772-33,469,334
(GRCh37/hg19)
Size:
13,563 bases
Orientation:
Minus strand

Genomic View for NLE1 Gene

Genes around NLE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLE1 Gene

Proteins for NLE1 Gene

  • Protein details for NLE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVX2-NLE1_HUMAN
    Recommended name:
    Notchless protein homolog 1
    Protein Accession:
    Q9NVX2
    Secondary Accessions:
    • O60868
    • Q59GJ8
    • Q9BU54

    Protein attributes for NLE1 Gene

    Size:
    485 amino acids
    Molecular mass:
    53320 Da
    Quaternary structure:
    • Associates with the pre-60S ribosomal particle. Interacts (via WD repeats) with uL18 (By similarity). Interacts (via UBL domain) with MDN1 (via VWFA/MIDAS domain) (PubMed:26601951).
    SequenceCaution:
    • Sequence=BAD92348.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NLE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLE1 Gene

Post-translational modifications for NLE1 Gene

  • Ubiquitination at Lys326 and Lys224
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NLE1 Gene

Domains & Families for NLE1 Gene

Gene Families for NLE1 Gene

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

Suggested Antigen Peptide Sequences for NLE1 Gene

GenScript: Design optimal peptide antigens:
  • Notchless protein homolog 1 (NLE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVX2

UniProtKB/Swiss-Prot:

NLE1_HUMAN :
  • Belongs to the NLE1/RSA4 family.
Family:
  • Belongs to the NLE1/RSA4 family.
genes like me logo Genes that share domains with NLE1: view

Function for NLE1 Gene

Molecular function for NLE1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity).

Phenotypes From GWAS Catalog for NLE1 Gene

Gene Ontology (GO) - Molecular Function for NLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with NLE1: view
genes like me logo Genes that share phenotypes with NLE1: view

Animal Models for NLE1 Gene

MGI Knock Outs for NLE1:
  • Nle1 Nle1<tm1Cba>
  • Nle1 Nle1<tm1.2Cota>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLE1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLE1 Gene

Localization for NLE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLE1 Gene

Nucleus, nucleolus.

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 NLE1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with NLE1: view

Pathways & Interactions for NLE1 Gene

PathCards logo

SuperPathways for NLE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA 21873635
GO:0001756 somitogenesis IEA --
GO:0001822 kidney development IEA --
GO:0001826 inner cell mass cell differentiation IEA --
GO:0007219 Notch signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with NLE1: view

No data available for Pathways by source and SIGNOR curated interactions for NLE1 Gene

Drugs & Compounds for NLE1 Gene

No Compound Related Data Available

Transcripts for NLE1 Gene

mRNA/cDNA for NLE1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLE1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLE1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2:
SP3: - -
SP4:
SP5: - -

Relevant External Links for NLE1 Gene

GeneLoc Exon Structure for
NLE1

Expression for NLE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLE1 Gene

mRNA differential expression in normal tissues according to GTEx for NLE1 Gene

This gene is overexpressed in Pancreas (x4.1).

Protein differential expression in normal tissues from HIPED for NLE1 Gene

This gene is overexpressed in Breast (21.0), Adipocyte (15.5), and Peripheral blood mononuclear cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NLE1 Gene



Protein tissue co-expression partners for NLE1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLE1

SOURCE GeneReport for Unigene cluster for NLE1 Gene:

Hs.85570

Evidence on tissue expression from TISSUES for NLE1 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Pancreas(2.7)
  • Blood(2.2)
  • Intestine(2.2)
  • Stomach(2.2)
  • Kidney(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with NLE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLE1 Gene

Orthologs for NLE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NLE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLE1 31 30
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NLE1 31 30
  • 91.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NLE1 31 30
  • 91.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nle1 30
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Nle1 17 31 30
  • 89.14 (n)
oppossum
(Monodelphis domestica)
Mammalia NLE1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NLE1 31 30
  • 76.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NLE1 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nle1 30
  • 73.32 (n)
Str.11153 30
African clawed frog
(Xenopus laevis)
Amphibia nle-pending-prov 30
zebrafish
(Danio rerio)
Actinopterygii nle1 31 30
  • 73.32 (n)
OneToOne
wufc12b09 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002221 30
  • 60.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nle 31 30
  • 59.66 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W07E6.2 31 30
  • 58.21 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER263C 30
  • 56.15 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08547g 30
  • 52.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 31 30
  • 50.73 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G52820 30
  • 54.43 (n)
rice
(Oryza sativa)
Liliopsida Os10g0104500 30
  • 60.3 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.10544 30
barley
(Hordeum vulgare)
Liliopsida Hv.6600 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Cin.13874 30
bread mold
(Neurospora crassa)
Ascomycetes NCU00794 30
  • 52.4 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18.05c 30
  • 51.35 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13874 30
Species where no ortholog for NLE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NLE1 Gene

ENSEMBL:
Gene Tree for NLE1 (if available)
TreeFam:
Gene Tree for NLE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLE1: view image

Paralogs for NLE1 Gene

(12) SIMAP similar genes for NLE1 Gene using alignment to 4 proteins:

  • NLE1_HUMAN
  • K7EK23_HUMAN
  • K7EN33_HUMAN
  • K7ERN7_HUMAN
genes like me logo Genes that share paralogs with NLE1: view

No data available for Paralogs for NLE1 Gene

Variants for NLE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLE1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
786649 Benign: not provided 35,142,033(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs75635495 A breast cancer sample p.Gln319Lys
rs1471615 - p.Pro6Ala
rs2306512 - p.Ser434Asn
rs2306513 - p.Tyr406His

Additional dbSNP identifiers (rs#s) for NLE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NLE1 Gene

Variant ID Type Subtype PubMed ID
esv3306040 CNV mobile element insertion 20981092
esv3410861 CNV insertion 20981092
esv3892998 CNV loss 25118596
nsv2036 CNV insertion 18451855

Variation tolerance for NLE1 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLE1 Gene

Disorders for NLE1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NLE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
heart block, congenital
  • congenital heart block
meningoencephalitis
- elite association - COSMIC cancer census association via MalaCards
Search NLE1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NLE1

genes like me logo Genes that share disorders with NLE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLE1 Gene

Publications for NLE1 Gene

  1. The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin. (PMID: 26601951) Romes EM … Stanley RE (The Journal of biological chemistry 2016) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 54
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 3 4 54

Products for NLE1 Gene

Sources for NLE1 Gene