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NEURL1 neuralized E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

Gene ID: 9148, updated on 4-Jul-2021

Summary

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Official Symbol
NEURL1provided by HGNC
Official Full Name
neuralized E3 ubiquitin protein ligase 1provided by HGNC
Primary source
HGNC:HGNC:7761
See related
Ensembl:ENSG00000107954 MIM:603804
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
neu; NEUR1; NEURL; RNF67; neu-1; bA416N2.1
Expression
Broad expression in brain (RPKM 4.6), colon (RPKM 2.4) and 15 other tissues See more
Orthologs
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Genomic context

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See NEURL1 in Genome Data Viewer
Location:
10q24.33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (103493705..103592546)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105253462..105352303)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene calcium homeostasis modulator 1 Neighboring gene NEURL1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 14515 Neighboring gene calcium homeostasis modulator 3 Neighboring gene Sharpr-MPRA regulatory region 15000 Neighboring gene SH3 and PX domains 2A Neighboring gene Sharpr-MPRA regulatory region 2777

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
  • 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. Identification of a human homolog of the Drosophila neuralized gene within the 10q25.1 malignant astrocytoma deletion region. Nakamura H, et al. Oncogene, 1998 Feb 26. PMID 9519875
  2. PITX2 and NEURL1 SNP polymorphisms in Hungarian atrial fibrillation patients determined by quantitative real-time PCR and melting curve analysis. Szirák K, et al. J Biotechnol, 2019 Jun 20. PMID 31039368
  3. Neuralized1 causes apoptosis and downregulates Notch target genes in medulloblastoma. Teider N, et al. Neuro Oncol, 2010 Dec. PMID 20847082, Free PMC Article
  4. NEURL rs6584555 and CAND2 rs4642101 contribute to postoperative atrial fibrillation: a prospective study among Chinese population. Wei T, et al. Oncotarget, 2016 Jul 5. PMID 27203392, Free PMC Article
  5. Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged1. Koutelou E, et al. J Biol Chem, 2008 Feb 15. PMID 18077452

See all (28) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A.
    Title: Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A.
  2. Study found no association between NEURL1 rs6584555 and increased risk of atrial fibrillation.
    Title: PITX2 and NEURL1 SNP polymorphisms in Hungarian atrial fibrillation patients determined by quantitative real-time PCR and melting curve analysis.
  3. Significant allelic and genotypic associations were identified between NEURL variant rs6584555 and GJA1 variant rs13216675 and Atrial fibrillation (AF). Significant genotypic association was found between CUX2 SNP rs6490029 and AF
    Title: Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation.
  4. NEURL rs12415501 and CAND2 rs4642101 are significantly associated with postoperative atrial fibrillation susceptibility after coronary artery bypass grafting among Chinese population
    Title: NEURL rs6584555 and CAND2 rs4642101 contribute to postoperative atrial fibrillation: a prospective study among Chinese population.
  5. Fe65 negatively regulates Jagged1 signaling by decreasing Jagged1 protein stability through the E3 ligase Neuralized-like 1.
    Title: Fe65 negatively regulates Jagged1 signaling by decreasing Jagged1 protein stability through the E3 ligase Neuralized-like 1.
  6. This is a novel gene implicated in atrial fibrillation
    Title: Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation.
  7. NEURL1 expression was downregulated in medulloblastoma compared to normal cerebellar tissue with lowest expression levels in hedgehog-activated tumors; conclude NEURL1 is candidate tumor suppressor in MB at least in part through effects on Notch pathway
    Title: Neuralized1 causes apoptosis and downregulates Notch target genes in medulloblastoma.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
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
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
GeneReviews: Not available
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables translation factor activity, non-nucleic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to amino acid stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lactation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of epidermal growth factor-activated receptor activity IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of long-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein monoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm axoneme assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
E3 ubiquitin-protein ligase NEURL1
Names
RING finger protein 67
RING-type E3 ubiquitin transferase NEURL1
h-neuralized 1
neuralized homolog
neuralized-like protein 1A
NP_004201.3
XP_005270326.1
XP_005270327.1
XP_011538633.1
XP_011538634.1
XP_011538635.1
XP_011538637.1
XP_016872398.1

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.

mRNA and Protein(s)

  1. NM_004210.5 → NP_004201.3  E3 ubiquitin-protein ligase NEURL1

    See identical proteins and their annotated locations for NP_004201.3

    Status: VALIDATED

    Source sequence(s)
    AK299620, AL121929, AL139339, U87864
    Consensus CDS
    CCDS7551.1
    UniProtKB/Swiss-Prot
    O76050
    UniProtKB/TrEMBL
    B4DS86
    Related
    ENSP00000358795.4, ENST00000369780.8
    Conserved Domains (3) summary
    smart00588
    Location:61 → 183
    NEUZ; domain in neuralized proteins
    cd16785
    Location:519 → 562
    mRING-HC-C3HC5_NEU1A; Modified RING finger, HC subclass (C3HC5-type), found in neuralized-like protein 1A (NEURL1A) and similar proteins
    pfam07177
    Location:296 → 447
    Neuralized

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    103493705..103592546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540331.3 → XP_011538633.1  E3 ubiquitin-protein ligase NEURL1 isoform X1

    Conserved Domains (4) summary
    smart00588
    Location:99 → 221
    NEUZ; domain in neuralized proteins
    pfam07177
    Location:103 → 168
    Neuralized; Neuralized
    pfam13920
    Location:556 → 605
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cl02614
    Location:333 → 484
    SPRY; SPRY domain

  2. XM_011540335.3 → XP_011538637.1  E3 ubiquitin-protein ligase NEURL1 isoform X7

    Conserved Domains (3) summary
    smart00588
    Location:99 → 221
    NEUZ; domain in neuralized proteins
    pfam07177
    Location:103 → 168
    Neuralized; Neuralized
    cl02614
    Location:103 → 251
    SPRY; SPRY domain

  3. XM_017016909.2 → XP_016872398.1  E3 ubiquitin-protein ligase NEURL1 isoform X3

  4. XM_011540332.2 → XP_011538634.1  E3 ubiquitin-protein ligase NEURL1 isoform X2

    Conserved Domains (4) summary
    smart00588
    Location:81 → 203
    NEUZ; domain in neuralized proteins
    pfam07177
    Location:85 → 150
    Neuralized; Neuralized
    pfam13920
    Location:538 → 587
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cl02614
    Location:315 → 466
    SPRY; SPRY domain

  5. XM_011540333.2 → XP_011538635.1  E3 ubiquitin-protein ligase NEURL1 isoform X5

    Conserved Domains (4) summary
    smart00588
    Location:43 → 165
    NEUZ; domain in neuralized proteins
    pfam07177
    Location:47 → 112
    Neuralized; Neuralized
    pfam13920
    Location:500 → 549
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cl02614
    Location:277 → 428
    SPRY; SPRY domain

  6. XM_005270269.4 → XP_005270326.1  E3 ubiquitin-protein ligase NEURL1 isoform X4

    See identical proteins and their annotated locations for XP_005270326.1

    UniProtKB/Swiss-Prot
    O76050
    Conserved Domains (3) summary
    smart00588
    Location:44 → 166
    NEUZ; domain in neuralized proteins
    cd16785
    Location:502 → 545
    mRING-HC-C3HC5_NEU1A; Modified RING finger, HC subclass (C3HC5-type), found in neuralized-like protein 1A (NEURL1A) and similar proteins
    pfam07177
    Location:279 → 430
    Neuralized

  7. XM_005270270.4 → XP_005270327.1  E3 ubiquitin-protein ligase NEURL1 isoform X6

    See identical proteins and their annotated locations for XP_005270327.1

    Conserved Domains (3) summary
    smart00588
    Location:1 → 108
    NEUZ; domain in neuralized proteins
    pfam07177
    Location:221 → 372
    Neuralized; Neuralized
    cd16785
    Location:444 → 487
    mRING-HC-C3HC5_NEU1A; Modified RING finger, HC subclass (C3HC5-type), found in neuralized-like protein 1A (NEURL1A) and similar proteins

RNA

  1. XR_945866.2 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76050.1 GenPept UniProtKB/Swiss-Prot:O76050

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