Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
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Used for IBA annotations across neurogenin family members
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Includes annotations for transcription factor activity, E-box binding, neural development processes
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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Source of broad annotations (DNA binding, nervous system development, cell differentiation, neuron differentiation)
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Source of mouse orthology-based annotations via Ensembl
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Includes chromatin binding, neuronal cell body localization, positive regulation annotations
Gene Ontology annotation of human sequence-specific DNA binding transcription factors based on TFClass database
Electronic Gene Ontology annotations created by ARBA machine learning models
The basic helix-loop-helix region of human neurogenin 1 is a monomeric natively unfolded protein which forms a "fuzzy" complex upon DNA binding
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Demonstrates NEUROG1 bHLH domain is natively unfolded and forms partially structured complexes upon E-box DNA binding
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Shows NEUROG1 can form homodimers and bind DNA, though with lower affinity than other bHLH proteins
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Provides direct experimental evidence (IDA, EXP) for DNA binding, E-box binding, and homodimerization activities
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
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First report of human NEUROG1 deletion phenotype
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Patient shows profound deafness due to CN VIII aplasia, oral motor dysfunction due to CN V defects
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Inner ear malformations including cochlear hypoplasia (1 turn instead of 2.5), narrow internal auditory canal
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Balance disorder, feeding difficulties, speech delay, developmental delay
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Phenotype matches neurog1 knockout mice perfectly, establishing NEUROG1 as essential for proximal cranial sensory neuron development (CN V, CN VIII from trigeminal and otic placodes)
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Source of genetic interaction (IGI) evidence for cranial nerve and sensory organ development annotations
A proteome-scale map of the human interactome network
Impact of cytosine methylation on DNA binding specificities of human transcription factors
A reference map of the human binary protein interactome
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome
Multimodal cell maps as a foundation for structural and functional genomics
NeuroD2 and neuroD3 - distinct expression patterns and transcriptional activation potentials within the neuroD gene family
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Original characterization of NEUROG1 (neuroD3) gene family member
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Shows NEUROG1 expressed transiently during embryonic development (E10-12 in mouse)
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Demonstrates neurogenic activity in Xenopus - ectopic neurogenesis when expressed
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Shows NEUROG1 can activate E-box-driven reporters in P19 cells
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Establishes NEUROG1 as a proneural bHLH transcription factor
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Source of TAS evidence for transcription factor activity and nervous system development
Deep research report on NEUROG1