Neurogenin-1 (NEUROG1) is a proneural basic helix-loop-helix (bHLH) transcription factor essential for neuronal fate commitment and glutamatergic neuron specification. It forms heterodimers with E-proteins (e.g., TCF4/E12) to bind E-box DNA motifs (CANNTG) and activate neuronal differentiation programs. NEUROG1 is critical for the development of cranial sensory ganglia, particularly the trigeminal (CN V) and vestibulocochlear (CN VIII) nerves. Loss of NEUROG1 causes congenital cranial dysinnervation disorder (CCDD) with profound deafness, balance defects, oral motor dysfunction, and developmental delay. NEUROG1 promotes neuronal over glial fate and drives glutamatergic versus GABAergic neuron identity in the cortex.
Definition: Any process that stops, prevents, or reduces the frequency, rate or extent of glial cell differentiation.
Justification: NEUROG1 is a proneural factor that promotes neuronal over glial fate. Like other proneural bHLH factors (ASCL1), NEUROG1 actively suppresses gliogenesis. This reciprocal regulation of the neuron-glia fate decision is a core function but not currently annotated.
Parent term: negative regulation of cell morphogenesis involved in differentiation
Supporting Evidence:
Definition: The commitment of neuroblasts to a glutamatergic neuron fate and their capacity to differentiate into glutamatergic neurons.
Justification: NEUROG1 specifically promotes glutamatergic (excitatory) neuron fate in the cortex, as opposed to GABAergic fate promoted by ASCL1/DLX factors. This neurotransmitter phenotype specification is a key aspect of NEUROG1's function but is not captured in current annotations.
Parent term: neuron fate commitment
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | IBA GO_REF:0000033 | ACCEPT | Summary: Core molecular function of NEUROG1 as a bHLH transcription factor that binds DNA and activates transcription of neuronal differentiation genes. Reason: This is a core molecular function of NEUROG1. The protein functions as an RNA polymerase II-specific transcription factor. Strong experimental support exists (IDA, TAS evidence) and phylogenetic inference is appropriate for this well-conserved function among bHLH factors. Supporting Evidence: PMID:8816493 neuroD3 is expressed transiently during embryonic development [...] Similar to neuroD, expression of neuroD2 in developing Xenopus laevis embryos results in ectopic neurogenesis, indicating that neuroD2 mediates neuronal differentiation. Transfection of vectors expressing neuroD and neuroD2 into P19 cells shows that both can activate expression through simple E-box-driven reporter constructs file:human/NEUROG1/NEUROG1-deep-research-falcon.md model: Edison Scientific Literature |
| GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific | ISA GO_REF:0000113 | ACCEPT | Summary: Duplicate of IBA annotation above. TFClass database confirms NEUROG1 as a class 1.2.3 bHLH transcription factor. Reason: Acceptable duplicate with ISA evidence from TFClass database, which systematically classifies transcription factors. No action needed as duplicates with different evidence codes are permitted. |
| GO:0070888 E-box binding | IBA GO_REF:0000033 | ACCEPT | Summary: Core DNA-binding specificity. NEUROG1 binds to E-box motifs (CANNTG) as a heterodimer with E-proteins. Reason: E-box binding is the specific DNA-binding activity of NEUROG1 and all neurogenin family members. This is more informative than generic "DNA binding" and represents the core molecular function by which NEUROG1 activates target genes. Supporting Evidence: PMID:20102160 Upon binding to two DNA E-boxes, the protein forms "fuzzy" complexes (that is, the complexes were not fully folded). |
| GO:0070888 E-box binding | IEA GO_REF:0000107 | ACCEPT | Summary: Duplicate E-box binding annotation via Ensembl orthology transfer. Reason: Acceptable duplicate annotation with computational evidence from mouse ortholog. |
| GO:0070888 E-box binding | IDA PMID:20102160 The basic helix-loop-helix region of human neurogenin 1 is a... | ACCEPT | Summary: Direct experimental demonstration of E-box binding activity. Reason: Strongest evidence type (IDA) for E-box binding from biochemical studies. This annotation provides experimental validation of the IBA and computational predictions. Supporting Evidence: PMID:20102160 Upon binding to two DNA E-boxes, the protein forms "fuzzy" complexes (that is, the complexes were not fully folded). The affinities of bHLHN for both DNA boxes were smaller than those of other bHLH domains |
| GO:0070888 E-box binding | ISS GO_REF:0000024 | ACCEPT | Summary: E-box binding inferred from mouse ortholog. Reason: Acceptable sequence similarity-based inference. Consistent with experimental evidence. |
| GO:1990837 sequence-specific double-stranded DNA binding | IEA GO_REF:0000117 | ACCEPT | Summary: Computational annotation for sequence-specific DNA binding by ARBA rules. Reason: Accurate representation of NEUROG1's DNA-binding properties. NEUROG1 binds specific E-box sequences, not generic DNA. Supported by experimental evidence from other annotations. |
| GO:1990837 sequence-specific double-stranded DNA binding | IDA PMID:28473536 Impact of cytosine methylation on DNA binding specificities ... | ACCEPT | Summary: Direct experimental evidence for sequence-specific DNA binding in context of DNA methylation study. Reason: IDA evidence from systematic study of transcription factor DNA-binding specificities. Confirms sequence-specific binding property. Supporting Evidence: PMID:28473536 Impact of cytosine methylation on DNA binding specificities of human transcription factors. |
| GO:1990837 sequence-specific double-stranded DNA binding | IDA PMID:20102160 The basic helix-loop-helix region of human neurogenin 1 is a... | ACCEPT | Summary: Direct demonstration of sequence-specific DNA binding to E-box elements. Reason: Strong experimental evidence (IDA) from biochemical characterization of NEUROG1 bHLH domain binding to specific DNA sequences. Supporting Evidence: PMID:20102160 Upon binding to two DNA E-boxes, the protein forms "fuzzy" complexes |
| GO:0003677 DNA binding | IEA GO_REF:0000043 | ACCEPT | Summary: Generic DNA binding annotation from UniProtKB keyword mapping. Reason: While this term is less informative than the more specific E-box binding and sequence-specific DNA binding terms, it is technically correct and derives from automated keyword mapping. The more specific terms already capture the functional detail. |
| GO:0003677 DNA binding | EXP PMID:20102160 The basic helix-loop-helix region of human neurogenin 1 is a... | ACCEPT | Summary: Experimental evidence for DNA binding from biochemical studies. Reason: Acceptable experimental evidence, though the more specific terms (E-box binding, sequence-specific DNA binding) better capture NEUROG1's function. This provides a valid, albeit broad, characterization. Supporting Evidence: PMID:20102160 Upon binding to two DNA E-boxes, the protein forms "fuzzy" complexes |
| GO:0003700 DNA-binding transcription factor activity | TAS PMID:8816493 NeuroD2 and neuroD3 - distinct expression patterns and trans... | ACCEPT | Summary: Traceable author statement establishing NEUROG1 as a transcription factor with neurogenic activity. Reason: Valid TAS evidence from the original characterization paper. While GO:0000981 (RNA pol II-specific) is more precise, this broader term is acceptable given the strong literature support. Supporting Evidence: PMID:8816493 We have identified two new genes, neuroD2 and neuroD3, on the basis of their similarity to the neurogenic basic-helix-loop-helix (bHLH) gene neuroD [...] Similar to neuroD, expression of neuroD2 in developing Xenopus laevis embryos results in ectopic neurogenesis |
| GO:0003682 chromatin binding | IEA GO_REF:0000107 | ACCEPT | Summary: Chromatin binding inferred from mouse ortholog via Ensembl Compara. Reason: Biologically plausible and consistent with UniProtKB annotation stating NEUROG1 "Associates with chromatin to enhancer regulatory elements." Transcription factors must access chromatinized DNA templates. |
| GO:0003682 chromatin binding | ISS GO_REF:0000024 | ACCEPT | Summary: Chromatin binding inferred by sequence similarity to mouse ortholog. Reason: Acceptable ISS inference. Supported by UniProtKB functional annotation describing chromatin association. |
| GO:0046983 protein dimerization activity | IEA GO_REF:0000002 | ACCEPT | Summary: Protein dimerization activity inferred from InterPro bHLH domain (IPR011598, IPR036638). Reason: Accurate inference from domain composition. bHLH proteins require dimerization for DNA binding. NEUROG1 forms heterodimers with E-proteins (TCF4/E12) as documented in UniProtKB and literature. |
| GO:0042803 protein homodimerization activity | IDA PMID:20102160 The basic helix-loop-helix region of human neurogenin 1 is a... | ACCEPT | Summary: Direct experimental evidence that NEUROG1 bHLH domain can homodimerize. Reason: Legitimate experimental observation from biochemical studies. However, note that in vivo, NEUROG1 primarily functions as a heterodimer with E-proteins (TCF4/E12), not as a homodimer. The homodimerization activity is real but may not reflect the physiologically relevant state. Supporting Evidence: PMID:20102160 The basic helix-loop-helix region of human neurogenin 1 is a monomeric natively unfolded protein which forms a "fuzzy" complex upon DNA binding. |
| GO:0005515 protein binding | IPI PMID:25416956 A proteome-scale map of the human interactome network | REMOVE | Summary: Generic protein binding from proteome-scale interactome study (interaction with TCF4/P15884). Reason: Per curation guidelines, "protein binding" should be removed as it is uninformative. The specific interaction with TCF4 (E-protein heterodimerization partner) is biologically relevant but should be captured with a more specific molecular function term if available. The heterodimerization is already captured by GO:0046983 (protein dimerization activity). Supporting Evidence: PMID:25416956 A proteome-scale map of the human interactome network. |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome | REMOVE | Summary: Generic protein binding from binary interactome study (interaction with TCF12/Q99081-3). Reason: Per curation guidelines, remove uninformative "protein binding" term. TCF12 is another E-protein heterodimerization partner, already captured conceptually by dimerization activity terms. Supporting Evidence: PMID:32296183 Apr 8. A reference map of the human binary protein interactome. |
| GO:0005515 protein binding | IPI PMID:32814053 Interactome Mapping Provides a Network of Neurodegenerative ... | REMOVE | Summary: Generic protein binding from neurodegenerative disease interactome study. Reason: Uninformative per guidelines. Remove generic protein binding annotation. Supporting Evidence: PMID:32814053 Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. |
| GO:0005515 protein binding | IPI PMID:33961781 Dual proteome-scale networks reveal cell-specific remodeling... | REMOVE | Summary: Generic protein binding from cell-specific interactome remodeling study. Reason: Uninformative per guidelines. Remove generic protein binding annotation. Supporting Evidence: PMID:33961781 2021 May 6. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. |
| GO:0005515 protein binding | IPI PMID:40205054 Multimodal cell maps as a foundation for structural and func... | REMOVE | Summary: Generic protein binding from multimodal cell atlas study. Reason: Uninformative per guidelines. Remove generic protein binding annotation. Supporting Evidence: PMID:40205054 Apr 9. Multimodal cell maps as a foundation for structural and functional genomics. |
| GO:0005634 nucleus | IBA GO_REF:0000033 | ACCEPT | Summary: Nuclear localization inferred by phylogenetic analysis across bHLH transcription factor family. Reason: Correct subcellular localization. NEUROG1 is a nuclear transcription factor as confirmed by UniProtKB annotation and expected for its function. |
| GO:0005634 nucleus | IEA GO_REF:0000044 | ACCEPT | Summary: Nuclear localization from UniProtKB subcellular location vocabulary mapping. Reason: Acceptable duplicate annotation via automated mapping. Consistent with protein function and other evidence. |
| GO:0000785 chromatin | ISA GO_REF:0000113 | ACCEPT | Summary: Chromatin localization from TFClass database annotation of sequence-specific DNA-binding transcription factors. Reason: Appropriate for a transcription factor that must access chromatinized DNA. Supported by UniProtKB statement that NEUROG1 "Associates with chromatin to enhancer regulatory elements." |
| GO:0043025 neuronal cell body | IEA GO_REF:0000107 | KEEP AS NON CORE | Summary: Neuronal cell body localization inferred from mouse ortholog. Reason: While NEUROG1 is expressed in neural progenitors and developing neurons, this is not a primary defining feature of the protein. The nuclear localization is more fundamental. However, this annotation may reflect expression data from mature neurons and is acceptable as a non-core annotation documenting tissue/cell-type expression context. |
| GO:0043204 perikaryon | IEA GO_REF:0000107 | KEEP AS NON CORE | Summary: Perikaryon (neuronal cell body) localization from mouse ortholog. Reason: Perikaryon is essentially synonymous with neuronal cell body (GO:0043025). This annotation reflects expression context rather than core function. Acceptable as non-core documentation of where NEUROG1 is found in differentiated neurons, though its key developmental role is in progenitors. |
| GO:0045666 positive regulation of neuron differentiation | IEA GO_REF:0000107 | ACCEPT | Summary: Positive regulation of neuron differentiation from mouse ortholog. Reason: Core function of NEUROG1 as a proneural transcription factor. This regulatory term accurately captures that NEUROG1 promotes/activates neuronal differentiation programs. Supporting Evidence: PMID:8816493 Similar to neuroD, expression of neuroD2 in developing Xenopus laevis embryos results in ectopic neurogenesis, indicating that neuroD2 mediates neuronal differentiation |
| GO:0045666 positive regulation of neuron differentiation | ISS GO_REF:0000024 | ACCEPT | Summary: Duplicate annotation via sequence similarity to mouse ortholog. Reason: Acceptable duplicate with ISS evidence. Consistent with IEA annotation above and experimental literature. |
| GO:0045944 positive regulation of transcription by RNA polymerase II | IBA GO_REF:0000033 | ACCEPT | Summary: Transcriptional activation function inferred by phylogenetic analysis. Reason: Accurate mechanistic description of how NEUROG1 functions - it activates transcription of target genes. This is the molecular mechanism underlying its role in neuron differentiation. Supporting Evidence: PMID:8816493 Transfection of vectors expressing neuroD and neuroD2 into P19 cells shows that both can activate expression through simple E-box-driven reporter constructs |
| GO:0045944 positive regulation of transcription by RNA polymerase II | IEA GO_REF:0000107 | ACCEPT | Summary: Duplicate transcriptional activation annotation from mouse ortholog. Reason: Acceptable duplicate via orthology transfer. |
| GO:0045944 positive regulation of transcription by RNA polymerase II | ISS GO_REF:0000024 | ACCEPT | Summary: Transcriptional activation inferred by sequence similarity. Reason: Acceptable duplicate with ISS evidence. |
| GO:0006357 regulation of transcription by RNA polymerase II | TAS PMID:8816493 NeuroD2 and neuroD3 - distinct expression patterns and trans... | ACCEPT | Summary: Traceable author statement for transcriptional regulation function. Reason: Valid TAS evidence from original characterization. The more specific "positive regulation" term (GO:0045944) is preferable, but this broader term is acceptable and accurately describes NEUROG1's mechanism of action. Supporting Evidence: PMID:8816493 Transfection of vectors expressing neuroD and neuroD2 into P19 cells shows that both can activate expression through simple E-box-driven reporter constructs and can activate a reporter driven by the neuroD2 promoter region |
| GO:0007399 nervous system development | IEA GO_REF:0000043 | ACCEPT | Summary: General nervous system development from UniProtKB keyword. Reason: Accurate broad characterization. NEUROG1 plays essential roles in nervous system development, particularly in cranial sensory ganglia formation and cortical neurogenesis. More specific terms (sensory organ development, cranial nerve development) provide additional detail. |
| GO:0007399 nervous system development | TAS PMID:8816493 NeuroD2 and neuroD3 - distinct expression patterns and trans... | ACCEPT | Summary: Traceable author statement for nervous system development role from original characterization paper. Reason: Valid TAS evidence demonstrating NEUROG1's neurogenic function. Supporting Evidence: PMID:8816493 neuroD3 is expressed transiently during embryonic development, with the highest levels of expression between days 10 and 12 |
| GO:0030154 cell differentiation | IEA GO_REF:0000043 | ACCEPT | Summary: Generic cell differentiation term from keyword mapping. Reason: While very broad, this is technically accurate - NEUROG1 drives cell differentiation (specifically neuronal differentiation). The more specific neuron differentiation term (GO:0030182) is more informative, but this general term is acceptable. |
| GO:0061564 axon development | IBA GO_REF:0000033 | KEEP AS NON CORE | Summary: Axon development inferred by phylogenetic analysis across neurogenin orthologs. Reason: NEUROG1 is expressed in neural progenitors and early differentiating neurons. While NEUROG1-expressing cells will eventually develop axons, axon development is a later differentiation event. This may represent over-annotation or propagation from species where neurogenins have been studied in axonal contexts. Mark as non-core since NEUROG1's primary function is fate commitment and early differentiation, not axon morphogenesis per se. |
| GO:0007423 sensory organ development | IBA GO_REF:0000033 | ACCEPT | Summary: Sensory organ development inferred across neurogenin family members. Reason: Accurate and well-supported. NEUROG1 is essential for development of cranial sensory ganglia (trigeminal, vestibulocochlear). Loss of NEUROG1 causes profound defects in sensory organ development (inner ear, sensory nerve formation). This is a core developmental function. Supporting Evidence: PMID:23419067 The neurog1 protein was found to be essential for the development of proximal sensory ganglia and for neurons forming from the trigeminal and otic placodes [8] |
| GO:0030900 forebrain development | IBA GO_REF:0000033 | KEEP AS NON CORE | Summary: Forebrain development inferred from limited phylogenetic support (only 3 orthologs in WITH/FROM field). Reason: NEUROG1 is expressed in forebrain progenitors and contributes to cortical neurogenesis. However, this is one of multiple regional contexts for NEUROG1 function (also hindbrain, cranial ganglia). The IBA evidence is weak (only 3 supporting orthologs suggests limited phylogenetic support). Mark as non-core since forebrain is one developmental context but not the defining feature of NEUROG1's function. |
| GO:0021559 trigeminal nerve development | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Trigeminal nerve (CN V) development demonstrated by genetic interaction evidence from human NEUROG1 deletion patient. Reason: Strong genetic evidence from human patient with homozygous NEUROG1 deletion showing severe oral motor dysfunction due to trigeminal nerve defects. This is a core developmental function of NEUROG1 in cranial sensory neuron specification. Supporting Evidence: PMID:23419067 The boy was unable to swallow and to chew food and showed increased salivation and speech difficulties [...] Correspondingly, we assume a malfunction of the Vth cranial nerve in the boy that could be caused by lack of sensory innervation or a missing motor innervation [...] Neurog1 is a neuronal determination gene for the cranial sensory neurons that give rise to cranial nerves V and VIII |
| GO:0021650 vestibulocochlear nerve formation | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Vestibulocochlear nerve (CN VIII) formation demonstrated by genetic interaction from human deletion patient. Reason: Strong genetic evidence. The patient had truncation/aplasia of CN VIII, profound deafness, and balance disorder. CN VIII development is a core function of NEUROG1 in otic placode-derived sensory neurons. Supporting Evidence: PMID:23419067 truncation or severe hypoplasia of the vestibulo-cochlear (VIIIth cranial) nerve. In the neurog1−/− mouse embryos, similar malformations of peripheral neural structures with absence of the vestibular-cochlear ganglion and of all afferent, efferent, and autonomic nerve fibers of the VIIIth cranial nerve were reported |
| GO:0048839 inner ear development | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Inner ear development defects in NEUROG1 deletion patient. Reason: Well-supported by genetic evidence. The patient had cochlear hypoplasia and inner ear malformations. NEUROG1 is essential for otic placode-derived neuronal development, which is critical for inner ear innervation and development. Supporting Evidence: PMID:23419067 the inner ear showed an overall reduction in size and the cochlea only had 1.25 turns, as opposed to 1.75 turns in the control littermates [...] the vestibulo-cochlear system of the neurog1−/− mutant mice showed a distinct missing utriculosaccular duct with only a small saccular recess |
| GO:0042472 inner ear morphogenesis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Inner ear morphogenesis defects with specific cochlear and vestibular malformations. Reason: More specific than "inner ear development" - focuses on morphogenetic defects. Well-supported by detailed anatomical descriptions in PMID:23419067. Acceptable as it captures the structural malformations resulting from NEUROG1 loss. Supporting Evidence: PMID:23419067 The boy's internal auditory canal was narrowed and the cochlea was hypoplastic with only one single widened cochlear turn |
| GO:0090102 cochlea development | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Cochlea development defects in NEUROG1-deleted patient. Reason: Specific cochlear malformations documented. Acceptable as more specific characterization of inner ear phenotype. Supporting Evidence: PMID:23419067 the cochlea was hypoplastic with only one single widened cochlear turn |
| GO:0090103 cochlea morphogenesis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | ACCEPT | Summary: Cochlea morphogenesis defects showing structural malformations. Reason: Captures specific morphogenetic defects in cochlear structure. Supported by anatomical descriptions. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0031223 auditory behavior | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | KEEP AS NON CORE | Summary: Profound deafness and auditory defects in NEUROG1 deletion patient. Reason: The deafness is a secondary consequence of CN VIII aplasia and inner ear malformation, not a direct function of NEUROG1. NEUROG1's core function is neuronal specification in the otic placode; the auditory behavior defect is a downstream phenotypic consequence. Mark as non-core to distinguish developmental function from behavioral outcome. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0050885 neuromuscular process controlling balance | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | KEEP AS NON CORE | Summary: Balance disorder in patient due to vestibular nerve and inner ear defects. Reason: Balance defects are secondary to vestibular apparatus and nerve malformation, not a direct developmental function of NEUROG1. The core function is sensory neuron specification; balance impairment is a downstream consequence. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0071626 mastication | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | KEEP AS NON CORE | Summary: Chewing dysfunction in patient with oral motor defects. Reason: Mastication defects are secondary to trigeminal nerve (CN V) malfunction. While documented in the patient, this is a behavioral/physiological consequence, not a core developmental function of NEUROG1. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0030432 peristalsis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | KEEP AS NON CORE | Summary: Swallowing difficulties suggesting esophageal dysfunction. Reason: Peristalsis defects are tertiary consequences of cranial nerve dysfunction affecting swallowing. This is quite removed from NEUROG1's core developmental function. Mark as non-core. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:1905747 negative regulation of saliva secretion | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | REMOVE | Summary: Increased salivation noted in patient, but annotation logic is unclear. Reason: The patient had INCREASED salivation, not decreased saliva secretion. This annotation appears to be incorrect or represents a confusing inference. The increased salivation is likely secondary to swallowing difficulty, not a direct regulatory function of NEUROG1. Remove as likely erroneous annotation. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:1901078 negative regulation of relaxation of muscle | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: Unclear annotation - may relate to muscle tone abnormalities. Reason: This is a very specific and indirect annotation. While the patient had various motor abnormalities, attributing "negative regulation of relaxation of muscle" to NEUROG1 is a stretch. This represents over-annotation of tertiary phenotypic consequences. Mark as over-annotated. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0048634 regulation of muscle organ development | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: Muscle-related phenotypes possibly from denervation. Reason: Any muscle development defects would be secondary to lack of motor innervation from cranial nerves, not a direct role of NEUROG1 in muscle development. This represents over-annotation. NEUROG1 specifies neurons, not muscle cells. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0097094 craniofacial suture morphogenesis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: Craniofacial abnormalities (scaphocephaly, plagiocephaly) noted in patient. Reason: The craniofacial suture abnormalities are likely secondary consequences of developmental disruption or mechanical factors, not a direct role of NEUROG1 in craniofacial morphogenesis. NEUROG1's expression is in neural tissues, not mesenchymal/skeletal elements. Over-annotation. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:1905748 hard palate morphogenesis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: High narrow palate observed in patient. Reason: Palate morphology defects are not plausibly direct functions of NEUROG1, which acts in neural tissue specification. These may be secondary effects or unrelated features. Over-annotation. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0098583 learned vocalization behavior | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | KEEP AS NON CORE | Summary: Speech difficulties noted in patient. Reason: Speech difficulties are plausible secondary consequences of oral motor dysfunction (CN V, CN VII territories) and hearing loss. However, this is a complex behavioral outcome far removed from NEUROG1's core developmental function. Keep as non-core documentation of patient phenotype. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0048806 genitalia development | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: Hypoplastic genitalia noted in patient. Reason: Hypoplastic genitalia in the patient is unlikely to be a direct consequence of NEUROG1 loss. NEUROG1 is not known to have roles in genitourinary development. This may represent a contiguous gene deletion effect (two other genes were deleted), a separate syndrome, or an unrelated finding. Clear over-annotation. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0035112 genitalia morphogenesis | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | MARK AS OVER ANNOTATED | Summary: Hypoplastic genitalia morphology. Reason: Same issue as GO:0048806. Not a plausible direct function of NEUROG1. Over-annotation. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
| GO:0007356 thorax and anterior abdomen determination | IGI PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with... | REMOVE | Summary: Unclear how this annotation relates to NEUROG1 function or patient phenotype. Reason: This annotation makes no biological sense for NEUROG1. The gene is a proneural bHLH factor involved in neuronal specification, not in anteroposterior body plan patterning. This appears to be an erroneous automated annotation. Remove. Supporting Evidence: PMID:23419067 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder |
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