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

Summary

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; AllianceGenome:HGNC:7761
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
Summary: Predicted to enable translation factor activity, non-nucleic acid binding and ubiquitin protein ligase activity. Involved in negative regulation of Notch signaling pathway; negative regulation of cell population proliferation; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 4.6), colon (RPKM 2.4) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (103493705..103592546)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (104381009..104479861)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105253462..105352303)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
This is a novel gene implicated in atrial fibrillation
Title: Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation.
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.
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.

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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

EBI GWAS Catalog

Description
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S222 (e-PCR), detects polymorphism
- UniSTS:72726

RH48899 (e-PCR)
- UniSTS:33573

G20290 (e-PCR)
- UniSTS:5930

A005K38 (e-PCR)
- UniSTS:5931

RH93063 (e-PCR)
- UniSTS:91204

SHGC-4169 (e-PCR)
- UniSTS:43087

NEURL_8906 (e-PCR)
- UniSTS:467800

D10S1400E (e-PCR)
- UniSTS:151398

RH102293 (e-PCR)
- UniSTS:96627

RH92781 (e-PCR)
- UniSTS:92795

SGC33314 (e-PCR)
- UniSTS:82822

RH68774 (e-PCR)
- UniSTS:65947

RH78889 (e-PCR)
- UniSTS:66756

SHGC-57337 (e-PCR)
- UniSTS:18640

SHGC-31369 (e-PCR)
- UniSTS:53717

STS-N31939 (e-PCR)
- UniSTS:51679

D10S222 (e-PCR), detects polymorphism
- UniSTS:83689

D10S299 (e-PCR)
- UniSTS:147950

SHGC-106571 (e-PCR)
- UniSTS:173823

Homology

Homologs of the NEURL1 gene: The NEURL1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 438 organisms have orthologs with human gene NEURL1
Orthologs

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

EC 2.3.2.27

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)

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, Q9H463

UniProtKB/TrEMBL

B4DS86

Related

ENSP00000358795.4, ENST00000369780.9

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