NEURL1

neuralized E3 ubiquitin protein ligase 1, the group of Ring finger proteins

Basic information

Region (hg38): 10:103493704-103592546

Previous symbols: [ "NEURL" ]

Links

ENSG00000107954 ∙ NCBI:9148 ∙ OMIM:603804 ∙ HGNC:7761 ∙ Uniprot:O76050 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NEURL1 gene.

• Inborn genetic diseases (30 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEURL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in NEURL1

This is a list of pathogenic ClinVar variants found in the NEURL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-103570931-T-C		not specified	Uncertain significance (Aug 02, 2021)
10-103570932-G-A		not specified	Uncertain significance (Mar 01, 2024)
10-103570953-G-T		not specified	Uncertain significance (Oct 05, 2022)
10-103570988-C-T		not specified	Uncertain significance (Sep 13, 2023)
10-103571030-G-T		not specified	Uncertain significance (Jan 23, 2024)
10-103571527-C-T			Likely benign (Mar 01, 2023)
10-103571568-G-A		not specified	Uncertain significance (Mar 31, 2023)
10-103571655-T-G		not specified	Uncertain significance (Feb 16, 2023)
10-103571661-A-G		not specified	Uncertain significance (Sep 12, 2023)
10-103571678-G-T		not specified	Uncertain significance (Mar 27, 2023)
10-103571732-G-A		not specified	Uncertain significance (Dec 13, 2023)
10-103571760-C-T		not specified	Uncertain significance (Feb 28, 2024)
10-103571804-C-T		not specified	Uncertain significance (Nov 17, 2022)
10-103571810-G-A		not specified	Uncertain significance (Jun 29, 2022)
10-103584611-A-C		not specified	Uncertain significance (Oct 04, 2022)
10-103584676-G-C		not specified	Uncertain significance (Aug 30, 2022)
10-103584722-A-T		not specified	Uncertain significance (Dec 01, 2022)
10-103584728-A-G		not specified	Uncertain significance (Nov 07, 2022)
10-103584744-G-A			Likely benign (Mar 01, 2023)
10-103584746-C-T		not specified	Uncertain significance (May 11, 2022)
10-103584755-T-C		not specified	Uncertain significance (Mar 06, 2023)
10-103584758-A-G		not specified	Uncertain significance (Feb 16, 2023)
10-103584760-G-C		not specified	Uncertain significance (Dec 02, 2022)
10-103584764-A-C		not specified	Uncertain significance (Aug 12, 2021)
10-103584774-C-G		not specified	Uncertain significance (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NEURL1	protein_coding	protein_coding	ENST00000369780	6	98574

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0111	0.981	125713	0	33	125746	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.54	211	344	0.614	0.0000242	3618
Missense in Polyphen		65	144.57	0.44962		1440
Synonymous	0.388	156	162	0.961	0.0000132	1227
Loss of Function	2.32	6	16.0	0.374	7.78e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00619	0.00209
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000534	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000134	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element- binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway. {ECO:0000269|PubMed:20847082}.
• Pathway: NOTCH-Ncore;Disease;Signal Transduction;Signaling by NOTCH1;Signaling by NOTCH2;NOTCH3 Activation and Transmission of Signal to the Nucleus;Signaling by NOTCH3;Signaling by NOTCH;NOTCH2 Activation and Transmission of Signal to the Nucleus;Notch signaling pathway;Constitutive Signaling by NOTCH1 HD Domain Mutants;Signaling by NOTCH1 HD Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 PEST Domain Mutants;Signaling by NOTCH1 PEST Domain Mutants in Cancer;Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants;Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer;Signaling by NOTCH1 in Cancer;Diseases of signal transduction;Activated NOTCH1 Transmits Signal to the Nucleus (Consensus)

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.708
• hipred: Y
• hipred_score: 0.786
• ghis: 0.607

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Neurl1a
• Phenotype: normal phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Zebrafish Information Network

• Gene name: neurl1aa
• Affected structure: atrial cardiac muscle cell action potential
• Phenotype tag: abnormal
• Phenotype quality: increased duration

Gene ontology

• Biological process: regulation of translation;protein monoubiquitination;Notch signaling pathway;sperm axoneme assembly;nervous system development;brain development;skeletal muscle tissue development;lactation;negative regulation of cell population proliferation;positive regulation of apoptotic process;positive regulation of epidermal growth factor-activated receptor activity;negative regulation of Notch signaling pathway;positive regulation of long-term neuronal synaptic plasticity;positive regulation of filopodium assembly;positive regulation of dendritic spine development;cellular response to amino acid stimulus;positive regulation of synapse maturation
• Cellular component: plasma membrane;postsynaptic density;cell junction;dendritic spine;perikaryon;postsynaptic membrane;perinuclear region of cytoplasm;apical dendrite
• Molecular function: ubiquitin-protein transferase activity;translation factor activity, non-nucleic acid binding;metal ion binding;ubiquitin protein ligase activity