Connexin-32 is a four-pass membrane protein that oligomerizes into connexons and forms intercellular channels at gap junctions. These channels mediate electrical coupling and the passage of small solutes between adjacent cells. GJB1 variants cause X-linked Charcot-Marie-Tooth neuropathy and can disrupt channel assembly, intracellular trafficking, intercellular coupling or hemichannel gating.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0005243 gap junction channel activity | IBA GO_REF:0000033 | ACCEPT | Summary: Connexin-32 enables gap-junction channel activity. Reason: The experimentally informed AN0/PTN008334405 placement is ancestral to human GJB1 in the actual PTHR11984 tree. Human connexin-32 supports intercellular electrical coupling in heterologous expression experiments (PMID:10234007; PMID:14627639), consistent with this channel definition. The inspected target lineage and membrane-spanning sequence provide no evidence of a target-specific functional loss; the donor count is not the basis for acceptance. |
| GO:0005243 gap junction channel activity | TAS Reactome:R-HSA-190681 | ACCEPT | Summary: Connexin-32 forms gap-junction channels. Reason: Reactome identifies human P08034 as the channel-forming protein and represents its oligomerization into a connexon. Independent human connexin-32 expression experiments demonstrate intercellular electrical coupling (PMID:10234007; PMID:14627639). The curated ER oligomerization event supports protein identity and assembly context; it is not itself a direct measurement of intercellular channel conduction in the ER. |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–A0PK00 pair is retained as an interaction observation. Its inspected evidence does not establish a specific GJB1 function beyond generic binding; removing the term is an informativeness judgment, not an artifact allegation. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The verified GJB1–A2A2V5 interaction does not by itself identify a functional contribution to channel assembly, conduction or regulation. Remove generic protein binding while preserving the positive pair and its original evidence. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–A2RU14 result is credible screened interaction evidence. No functionally grounded refinement follows from the inspected pair-specific record, so the generic binding annotation is removed without rejecting the assay. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The GJB1–O00155 pair remains a supported interaction hit. This evidence alone does not establish a distinct molecular role for GJB1; generic protein binding adds no informative function and is removed. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–O00767 pairing is preserved. A binding-class function is not established merely by a partner identity, and the inspected pair record supplies no specific functional mechanism. Remove the uninformative generic term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The interaction record is positive and names source O14523-2, while the incoming partner is gene-level O14523. Preserve that scope without assigning isoform exclusivity. The generic term does not explain a specific GJB1 function and is removed. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive source pair names O14735-1 within the incoming O14735 gene-level context. Its interaction evidence is retained; it does not establish a specific GJB1 function sufficient to retain or refine generic protein binding. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The explicit O43561-2 partner matches the source literally. Correct product identification strengthens the interaction trace but does not establish functional significance for GJB1. Remove the generic term without denying the positive assay. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The verified GJB1–O75841 pair is retained as positive evidence. The inspected record does not establish a useful specific GJB1 molecular function, so generic protein binding is removed for low informativeness. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source and incoming O95236-2 identifiers match. This resolves the literal product label, not the physiological purpose of the interaction. Remove the generic term while preserving the positive evidence and product scope. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The GJB1–O95393 interaction is supported by the retained screen record. The pair alone does not establish a specific channel-related or other GJB1 function, so the generic protein-binding annotation is removed. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–P02787 screen result is preserved without assuming a particular extracellular or intracellular encounter in vivo. It does not establish a specific functional role for GJB1; remove generic protein binding rather than infer one from the partner. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The incoming gene-level P11049 partner joins source P11049-1. Preserve the positive pair and that product limit. The inspected interaction record does not justify a specific GJB1 functional refinement; remove the generic term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source identifies P11215-1 within the incoming P11215 context. Its positive interaction does not by itself establish a receptor, adhesion or signaling role for GJB1. Remove generic protein binding while retaining the observed pair. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive pair involves source P11912-1, with a gene-level incoming partner. The inspected evidence does not establish a specific GJB1 functional contribution from that association. Remove the generic term without rejecting the interaction. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive gene-level pairing adds no specific GJB1 function, so generic protein binding is removed on informativeness grounds. The annotation names P15692-12, whereas the HuRI source names P15692-9 (ORF12317). Those product identities remain unresolved; removal neither rejects the assay nor establishes that the source suffix is the correct replacement. The discrepancy is recorded as a suspected provenance issue for curator checking. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive pair names source P21145-1 within a gene-level incoming context. Preserve that observation, but do not infer a specific GJB1 functional class from partner identity. Generic protein binding is removed for insufficient functional informativeness. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source P21964-1 interaction supports the incoming gene-level pair. The inspected assay does not establish GJB1 participation in the partner’s biochemical activity or a useful specific binding role. Remove the generic term, retaining the pair. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–GJB2 pair is biologically relevant to connexin partnership, and independent Cx32/Cx26 experiments report heterotypic channel coupling (PMID:14627639). That channel function is already represented by the existing gap-junction annotations. Remove this uninformative generic binding term without denying the interaction or manufacturing a separate binding-class function; heterotypic coupling does not by itself establish mixed-subunit heteromeric connexons. |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The verified GJB1–P43378 pair is positive interaction evidence. The partner’s identity does not establish that this association supplies a specific GJB1 molecular function. Remove the generic binding annotation while preserving the assay result. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–P48230 interaction is retained. Its inspected pair-specific evidence does not explain a distinct GJB1 function, so generic protein binding is removed without a claim of experimental falsity. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The GJB1–P52803 pair is supported in the retained assay. The evidence does not establish a particular binding mechanism or functional contribution by GJB1. Remove the low-information generic term and retain the positive association. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–P54852 result is preserved. No specific GJB1 function follows from this screened association alone, and the generic binding term is removed for informativeness rather than because the assay is considered an artifact. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The verified GJB1–Q07325 pair is retained without inferring a physiological signaling relationship from the partner. The inspected association does not justify a specific GJB1 binding function; remove the generic term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source names Q0D2K0-1 within the incoming gene-level context. Preserve the positive interaction and product scope. The inspected pair does not identify a specific GJB1 functional role, so remove generic protein binding. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–Q4LDR2 pairing is supported by the source. Its functional significance for GJB1 remains unestablished in the inspected evidence; remove generic protein binding without negating the interaction. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source identifies Q5BVD1-1 for the incoming Q5BVD1 association. The interaction is positive, but a specific GJB1 functional role is not established. Remove the generic term while retaining the literal product context. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive source pair names Q5J8X5-1 within the incoming gene-level assertion. Preserve that scope and the interaction observation. The generic protein-binding term offers no specific GJB1 functional explanation and is removed. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The verified GJB1–Q5QGT7 pair supports an interaction observation. The inspected result does not establish a specific GJB1 function or justify a partner-class refinement. Remove the generic term without rejecting the assay. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The GJB1–Q6ZUX7 pairing is positive in the retained source. The available pair-specific evidence does not identify a functional mechanism for GJB1, so generic protein binding is removed for low informativeness. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The supported GJB1–Q969L2 interaction is preserved. A distinct GJB1 molecular function cannot be assigned from this pair alone; remove the uninformative generic term without treating the interaction as false. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The incoming Q96DZ9-2 product matches the source literally. This supports the traceable interaction, but not a specific GJB1 functional interpretation. Remove generic protein binding while preserving the explicit product and positive assay. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive source association names Q96EC8-1 within the incoming gene-level context. Preserve the pair without asserting isoform exclusivity or a specific GJB1 function beyond the assay. Remove the generic binding term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source Q96HH6-1 record supports the positive incoming Q96HH6 pair. It does not establish a useful specific GJB1 function; remove the generic term while retaining the association and its product limit. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive interaction names source Q96MX0-1. The incoming partner remains gene-level, and no product-exclusive mechanism is inferred. The inspected pairing adds no specific GJB1 function, so generic protein binding is removed. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive gene-level pairing adds no specific GJB1 function, so generic protein binding is removed on informativeness grounds. The annotation names Q9BXN2-6, whereas the HuRI source names Q9BXN2-7 (ORF14934). Those product identities remain unresolved; removal neither rejects the assay nor establishes that the source suffix is the correct replacement. The discrepancy is recorded as a suspected provenance issue for curator checking. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The source and incoming Q9GZY8-5 partner identifiers agree. The positive interaction remains evidence, but no specific GJB1 functional role is established by the inspected pair. Remove the generic protein-binding term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive source pairing identifies Q9NX14-1 within the incoming Q9NX14 context. Preserve this observation; it does not itself establish a specific GJB1 function. Remove the generic term without denying the association. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The GJB1–Q9P0S9 result is a verified positive pairing. The inspected record does not support a distinct GJB1 functional refinement, and the generic protein-binding term is removed for insufficient informativeness. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–Q9UNK0 interaction is retained. A partner association alone does not establish which molecular function GJB1 performs through it. Remove generic protein binding while preserving the evidence. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The supported GJB1–Q9Y2Y6 pair does not establish a specific GJB1 functional mechanism in the inspected evidence. Remove the generic term without making an artifact claim or deleting the positive association. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The literal Q9Y5U9 interaction is positive. An additional source identifier sharing its ORF does not independently prove accession equivalence or justify a new context. Preserve the exact incoming pair and remove the uninformative generic binding term. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive gene-level pairing adds no specific GJB1 function, so generic protein binding is removed on informativeness grounds. The annotation names Q9Y666-2, whereas the HuRI source names Q9Y666-1 (ORF4940). Those product identities remain unresolved; removal neither rejects the assay nor establishes that the source suffix is the correct replacement. The discrepancy is recorded as a suspected provenance issue for curator checking. Supporting Evidence: |
| GO:0005515 protein binding | IPI PMID:32296183 A reference map of the human binary protein interactome. | REMOVE | Summary: The positive interaction is preserved, but generic protein binding is uninformative. Reason: The positive GJB1–Q9Y6I9 pairing is preserved as an interaction observation. No useful specific GJB1 function follows from the inspected pair alone, so generic protein binding is removed without claiming the experiment was false. Supporting Evidence: |
| GO:0005737 cytoplasm | IEA GO_REF:0000107 | KEEP AS NON CORE | Summary: An intracellular connexin-32 pool is supported in the mouse donor context. Reason: The actual mouse donor study, PMID:20089884, detects Cx32 within mammary luminal epithelial cells as well as at gap-junction plaques. Its discussion proposes newly synthesized subunits as the intracellular pool. Cytoplasm includes intracellular organelles and does not mean soluble cytosol; the observation is compatible with membrane-protein biogenesis and trafficking. Retain the broad location as non-core while preserving the human annotation as an orthology inference, not a direct human localization assay. |
| GO:0005789 endoplasmic reticulum membrane | TAS Reactome:R-HSA-190681 | KEEP AS NON CORE | Summary: Connexin-32 occupies the ER membrane during connexon biogenesis. Reason: Reactome R-HSA-190681 explicitly uses human P08034 residues 1–283 in the ER membrane and represents six subunits forming a connexon there. This is a supported biosynthetic location, distinct from the plasma-membrane junction where mature channels communicate between cells. Retain it without treating the pathway annotation as direct evidence of intercellular channel conduction inside the ER. Supporting Evidence: Reactome:R-HSA-190681 |
| GO:0005789 endoplasmic reticulum membrane | TAS Reactome:R-HSA-190693 | KEEP AS NON CORE | Summary: Newly synthesized connexin-32 is inserted into the ER membrane. Reason: Reactome R-HSA-190693 represents GJB1 synthesis and membrane insertion, with the human protein as the ER-membrane output. This supports the transient biosynthetic location. It does not assign translation catalysis to connexin-32 or imply that the ER is its principal mature site of intercellular channel function. Supporting Evidence: Reactome:R-HSA-190693 |
| GO:0005886 plasma membrane | IEA GO_REF:0000120 | ACCEPT | Summary: The plasma membrane is the principal site of connexin-32 channel function. Reason: The combined location inference agrees with the membrane-spanning connexin architecture and human cell-surface junction formation and electrical-coupling experiments. Mouse orthology and the UniProt cell-membrane term are consistent supporting inputs; this is not a default localization assigned solely from a generic sequence feature. |
| GO:0005921 gap junction | IEA GO_REF:0000120 | ACCEPT | Summary: Connexin-32 is a component of gap junctions. Reason: Human connexin-32 supports junctional channel formation and coupling, while the original cloning study establishes the human protein identity through cDNA translation and antibody recognition. Its purified junction material was rat, so it is not treated as a purified-human channel assay. The independent human functional evidence and conserved structural role support the gap-junction location. |
| GO:0005922 connexin complex | IBA GO_REF:0000033 | ACCEPT | Summary: Connexin-32 is a structural subunit of the connexin complex. Reason: The connexin-complex IBD at AN0/PTN008334405 is inherited by the verified human GJB1 leaf. Connexin-32 supplies a membrane-spanning subunit of the hemichannel that joins another hemichannel to create a gap-junction channel. Human channel-formation experiments are consistent with this conserved assembly role (PMID:10234007). The historical human cDNA study supports junction-protein identity but is not itself a measurement of human complex stoichiometry (PMID:2875078). |
| GO:0005922 connexin complex | IEA GO_REF:0000002 | ACCEPT | Summary: Connexin-32 contributes the channel subunits of a connexin complex. Reason: The connexin-family assignment is supported by the actual GJB1 sequence and human intercellular channel formation. Reactome independently represents a human GJB1 hexamer. The term identifies the connexon complex, consistent with the channel-forming role; it does not assign every possible heteromeric partner or establish an exclusive subunit composition in all tissues. |
| GO:0005922 connexin complex | TAS PMID:2875078 Cloning and characterization of human and rat liver cDNAs co... | ACCEPT | Summary: The cloned human connexin-32 protein is a connexin-complex subunit. Reason: PMID:2875078 directly identifies human connexin-32 through liver cDNA, cell-free translation and human-homogenate antibody recognition, with purified rat gap-junction protein used for comparison. It does not independently measure human complex stoichiometry or conductance. Human channel-formation studies and the curated GJB1 hexamer provide the additional grounding for accepting complex membership. |
| GO:0007154 cell communication | IEA GO_REF:0000002 | TOO GENERAL | Summary: Cell communication is correct but broader than the established cell-cell signaling role. Reason: Connexin-32 directly connects adjacent cells through gap-junction channels. The current ontology places cell-cell signaling beneath cell communication and explicitly includes gap-junction signaling in its definition. The existing cell-cell signaling annotations capture this role more precisely; the family-based parent assertion adds no distinct biological coverage. |
| GO:0007267 cell-cell signaling | IBA GO_REF:0000033 | ACCEPT | Summary: Gap-junction channels directly mediate cell-cell signaling. Reason: The actual cell-cell signaling IBD lies at AN0/PTN008334405 on the human GJB1 ancestral path. Connexin-32 contributes the intercellular channel through which coupled cells exchange current and small molecules, rather than merely responding to a downstream signaling phenotype. Human channel experiments support this mechanism (PMID:14627639), and the current GO definition explicitly includes gap-junction communication. No loss of the inherited role is identified in the inspected target evidence. |
| GO:0007267 cell-cell signaling | TAS PMID:8266101 Connexin mutations in X-linked Charcot-Marie-Tooth disease. | ACCEPT | Summary: Connexin-32 directly mediates communication between neighboring cells. Reason: The accessible PMID:8266101 abstract establishes human GJB1 mutations and peripheral-nerve expression, while its original full text remains unavailable. Acceptance rests on independent human connexin-32 intercellular channel experiments, not an inferred channel assay in that abstract. Direct passage of electrical signals and small solutes through gap junctions fits the current cell-cell signaling definition. |
| GO:0007399 nervous system development | TAS PMID:8266101 Connexin mutations in X-linked Charcot-Marie-Tooth disease. | UNDECIDED | Summary: The specific nervous-system development assertion remains unresolved. Reason: The accessible PMID:8266101 abstract establishes human GJB1 mutations and peripheral-nerve expression; its full developmental evidence remains inaccessible. V181A delayed myelination onset in patient-nerve xenografts (PMID:14627639), but that regeneration phenotype does not alone resolve normal developmental participation. Retain uncertainty without claiming that the cited paper omitted supporting evidence or that connexin-32 has no developmental role. |
| GO:0016264 gap junction assembly | TAS Reactome:R-HSA-190861 | ACCEPT | Summary: Connexin-32 contributes structural subunits to gap-junction assembly. Reason: Reactome represents GJB1-containing connexon formation and the subsequent assembly of intercellular junctions. Connexin-32 performs part of this process as a channel subunit that oligomerizes and docks, rather than merely being required indirectly. Human channel-formation experiments provide independent functional grounding. The broader pathway discussion of Cx43-specific microtubule interactions is not transferred to GJB1. |
| GO:0042802 identical protein binding | IEA GO_REF:0000107 | ACCEPT | Summary: Connexin-32 self-association contributes to connexon assembly. Reason: The mouse donor is experimentally grounded: PMID:20578039 reports anti-Cx32 monomer and dimer bands in embryo/brain lysates. That electrophoretic observation has identification limits and is not a Cx32 co-immunoprecipitation experiment; the separate immunoprecipitation section concerns Cx47. Human connexin-32 channel formation and the curated homohexameric connexon provide independent support for a functionally relevant self-association. Retain this structural binding function without implying an isoform-exclusive interaction. |
| GO:0055085 transmembrane transport | IEA GO_REF:0000108 | ACCEPT | Summary: Gap-junction channels provide a transmembrane route for intercellular solute and electrical transfer. Reason: The inference from gap-junction channel activity is biologically coherent: connexin-32 channels span the membranes of adjacent cells and conduct between their cytoplasms. Human expression experiments measure junctional currents and support this transport role. This does not imply an ATP-driven pump, transport of every substrate, or a constitutively open unapposed hemichannel. |
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Download this section (compressed HTML)Q: Which original experiment supports nervous system development in PMID:8266101, separately from human mutation association and peripheral-nerve expression?
Suggested experts: GO annotation curators, Peripheral nerve biologists
Q: Which complete experimental clones underlie the three HuRI interactions whose incoming and source partner suffixes differ (P15692-12 versus -9, Q9BXN2-6 versus -7, Q9Y666-2 versus -1)?
Suggested experts: Interaction database curators, HuRI resource authors
Q: How do physiological voltage, pH and membrane composition regulate wild-type Cx32 hemichannels compared with disease variants, and when does altered gating contribute independently of reduced junctional coupling?
Suggested experts: Connexin channel electrophysiologists
Experiment: Compare sequence-verified wild-type human Cx32 and selected disease variants at matched surface abundance, measuring paired-cell junctional conductance and unpaired-cell hemichannel currents under controlled voltage, pH and calcium conditions.
Hypothesis: Some variants change gating independently of abundance or trafficking, allowing junctional loss of function to be separated from hemichannel leakage.
Experiment: In a human myelinating Schwann-cell system, combine acute endogenous GJB1 perturbation and sequence-verified rescue with spatially resolved dye transfer and electrical coupling, while measuring cell differentiation and viability separately.
Hypothesis: Direct communication defects can be distinguished from secondary changes in myelination or cell state.
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