ABI2
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
BLOC1S6
Gene Ontology Biological Process
- anterograde axon cargo transport [ISS]
- anterograde synaptic vesicle transport [ISS]
- endosome to melanosome transport [IDA]
- melanosome organization [NAS]
- melanosome transport [IDA]
- membrane organization [TAS]
- neuron projection development [ISS]
- positive regulation of pigment cell differentiation [IDA]
- post-Golgi vesicle-mediated transport [TAS]
- synaptic vesicle docking [NAS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
Two-hybrid
Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.
Publication
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
Identifying disease-associated missense mutations remains a challenge, especially in large-scale sequencing studies. Here we establish an experimentally and computationally integrated approach to investigate the functional impact of missense mutations in the context of the human interactome network and test our approach by analyzing ~2,000 de novo missense mutations found in autism subjects and their unaffected siblings. Interaction-disrupting de novo missense ... [more]
Throughput
- High Throughput
Additional Notes
- this interaction found to remain intact in at least one case as part of an assessment of the effect on protein-protein interactions of autism-spectrum disorder mutations in the bait proteins
- this interaction was found to remain intact in the case of at least one bait protein mutation as part of an assessment of the effect on protein-protein interactions of autism-spectrum disorder mutations in the bait proteins
Related interactions
| Interaction | Experimental Evidence Code | Dataset | Throughput | Score | Curated By | Notes |
|---|---|---|---|---|---|---|
| BLOC1S6 ABI2 | Two-hybrid Two-hybrid Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation. | High | - | BioGRID | 2708561 | |
| ABI2 BLOC1S6 | Two-hybrid Two-hybrid Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation. | High | - | BioGRID | - |
Curated By
- BioGRID