NEUROG1 neurogenin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEUROG1provided by HGNC
Official Full Name: neurogenin 1provided by HGNC
Primary source: HGNC:HGNC:7764
See related: Ensembl:ENSG00000181965 MIM:601726; AllianceGenome:HGNC:7764
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: AKA; ngn1; CCDDRD; Math4C; bHLHa6; NEUROD3
Summary: Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including animal organ morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in neuronal cell body. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (135534282..135535964, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (136061404..136063086, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (134869972..134871654, complement)

Chromosome 5 - NC_000005.10 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.
Title: Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.
NeuroD1 seemed not sufficient to induce and maintain neuronal differentiation. Induction of neuronal differentiation by overexpression of Neurog1 initiated important steps for the development of glutamatergic neurons such as the spiral ganglion neurons
Title: Induction of neuronal-like phenotype in human mesenchymal stem cells by overexpression of Neurogenin1 and treatment with neurotrophins.
mutation not found in group of children with sensorineural hearing loss
Title: The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation.
Results show that neurogenin-1 and -2 drive homogeneous differentiation of human stem cells into bipolar neurons in 4 days in defined media.
Title: Rapid neurogenesis through transcriptional activation in human stem cells.
We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder
Title: A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
Methylation of NEUROG1 is associated with recurrence following adjuvant FOLFOX in Stages II/III colorectal cancer.
Title: Methylation and microsatellite status and recurrence following adjuvant FOLFOX in colorectal cancer.
NEUROG1 gene is frequently found in patients, diagnosed with colorectal cancer.
Title: Methylation of NEUROG1 in serum is a sensitive marker for the detection of early colorectal cancer.
Stable expression of a single gene Ngn1 in F3 cells induces not simply neurogenic but multifunctional changes that potentially affect the differentiation of human NSC via a reorganization of complex gene regulatory networks.
Title: Stable expression of neurogenin 1 induces LGR5, a novel stem cell marker, in an immortalized human neural stem cell line HB1.F3.
The basic helix-loop-helix region of human neurogenin 1 is a monomeric natively unfolded protein which forms a "fuzzy" complex upon DNA binding.
Title: The basic helix-loop-helix region of human neurogenin 1 is a monomeric natively unfolded protein which forms a "fuzzy" complex upon DNA binding.
Major alleles on two NEUROG1-associated SNPs (rs2344484-C-allele and rs8192558-G-allele) were significantly more prevalent among patients. this is the first study to examine brain morphological and neurocognitive correlates of NEUROG1.
Title: Basic helix-loop-helix transcription factor NEUROG1 and schizophrenia: effects on illness susceptibility, MRI brain morphometry and cognitive abilities.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay MedGen: CN372703 OMIM: 620469 GeneReviews: Not available	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65308 (e-PCR)
- UniSTS:15922

RH80843 (e-PCR)
- UniSTS:90767

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	EXP Inferred from Experiment more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in auditory behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in cochlea development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cochlea morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in craniofacial suture morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in exit from mitosis	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in genitalia development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in genitalia morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hard palate morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inner ear development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in learned vocalization behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mastication	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of relaxation of muscle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of saliva secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuromuscular process controlling balance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peristalsis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of exit from mitosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of muscle organ development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in thorax and anterior abdomen determination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in trigeminal nerve development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in vestibulocochlear nerve formation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurogenin-1

Names: NGN-1; class A basic helix-loop-helix protein 6; neurogenic basic-helix-loop-helix protein; neurogenic differentiation 3; neurogenic differentiation factor 3

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_006161.3 → NP_006152.2 neurogenin-1

See identical proteins and their annotated locations for NP_006152.2

Status: VALIDATED

Source sequence(s)

AC005738, BC028226

Consensus CDS

CCDS4187.1

UniProtKB/Swiss-Prot

Q5U0Q9, Q92886, Q96HE1

UniProtKB/TrEMBL

B2RAP3, F1T0H3

Related

ENSP00000317580.4, ENST00000314744.6

Conserved Domains (1) summary

cd00083
Location:90 → 149

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...