Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping
Gene Ontology annotation based on curation of intracellular localizations of expressed fusion proteins
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
Astrocytic Gapjinc (TMEM43) modulates gap junction networks by facilitating transjunctional potentials
LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.
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TMEM43/LUMA is a unique integral INM protein with four transmembrane domains
"We present here a first characterization of LUMA, an unique integral inner nuclear membrane (INM) protein."
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LUMA binds A- and B-type lamins and depends on A-type lamins for INM localization
"LUMA binds A- and B-type lamins and depends on A-type lamins for its INM localization."
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LUMA functions as a tetraspanin-like membrane organizer
"We propose that LUMA functions as a tetraspanin-like membrane organizer and has the potential to contribute to the pathomechanism of dystrophic diseases"
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LUMA interacts with emerin and regulates its distribution at the INM
"Both downregulation of LUMA and overexpression of dominant-negative acting LUMA fragments causes redistribution of emerin."
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LUMA transmembrane domains promote homo-oligomerization
"LUMA's transmembrane domains also promote homooligomerization."
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
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TMEM43 mutations E85K and I91V cause EDMD-related myopathy
"We identified heterozygous missense mutations, p.Glu85Lys and p.Ile91Val in TMEM43, in 2 EDMD-related myopathy patients."
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E85K mutation disrupts oligomerization
"p.Glu85Lys mutant LUMA resulted to failure in oligomerization"
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LUMA interacts with SUN2 in addition to emerin
"we demonstrated for the first time that LUMA can interact with another nuclear membrane protein, SUN2, in addition to emerin"
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Mutant LUMA causes redistribution of emerin and SUN2
"Cells expressing mutant LUMA revealed reduced nuclear staining with or without aggregates of emerin and SUN2 together with a higher proportion of abnormally shaped nuclei."
A proteome-scale map of the human interactome network.
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Large-scale interactome mapping study
"Just as reference genome sequences revolutionized human genetics, reference maps of interactome networks will be critical to fully understand genotype-phenotype relationships."
Widespread macromolecular interaction perturbations in human genetic disorders.
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
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Study on alternative splicing effects on protein interactions
"While alternative splicing is known to diversify the functional characteristics of some genes, the extent to which protein isoforms globally contribute to functional complexity on a proteomic scale remains unknown."
A reference map of the human binary protein interactome.
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HuRI systematic interactome mapping
"Here we present a human 'all-by-all' reference interactome map of human binary protein interactions, or 'HuRI'."
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression.
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TMEM43 functions in NF-kappa-B signaling downstream of EGFR
"we used a Bimolecular Fluorescence Complementation-based functional genomics method to perform a high throughput screening and identified TMEM43/LUMA as a critical component in EGFR signaling network, mediating EGFR-induced NF-κB activation"
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TMEM43 interacts with CARD10
"TMEM43 interacts with the scaffold protein CARMA3 and its associating complex to induce downstream NF-κB activation"
Interaction mapping of endoplasmic reticulum ubiquitin ligases identifies modulators of innate immune signalling.
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TMEM43 interacts with RNF26
"RNF26 co-assembles with TMEM43, ENDOD1, TMEM33 and TMED1 to form a complex"
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TMEM43 modulates innate immune signaling through cGAS-STING pathway
"RNF26 co-assembles with TMEM43, ENDOD1, TMEM33 and TMED1 to form a complex capable of modulating innate immune signalling through the cGAS-STING pathway."
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
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TMEM43 contributes to passive conductance in cochlear glia-like supporting cells
"TMEM43 interacts with the Connexin26 and Connexin30 gap junction channels, disrupting the passive conductance current in GLSs"
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TMEM43 interacts with gap junction proteins GJB2 and GJB4
"TMEM43 interacts with the Connexin26 and Connexin30 gap junction channels"
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AUNA3 variant causes auditory neuropathy
"Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness"
Deep research review of TMEM43 function
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TMEM43 functions primarily as an INM structural/adapter protein rather than as an enzyme or transporter
"Functions primarily as an INM structural/adapter protein that helps maintain nuclear envelope integrity"
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Ion-channel claims for TMEM43 remain debated
"A 2024 review grouped TMEM43 among TMEM proteins with ion-channel claims, but consensus primary role remains INM structural/adapter"
Cyberian deep research on TMEM43 function