Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
A proteome-scale map of the human interactome network.
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.
Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release.
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Human DISP1 directly binds SHH and supports SCUBE-dependent release of the lipid-modified ligand from human cells.
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Proteolytic processing improves SHH binding and release; structural analysis resolves protein recognition while leaving the lipid termini and precise SCUBE handoff unresolved.
Dispatched uses Na(+) flux to power release of lipid-modified Hedgehog.
Dispatched and scube mediate the efficient secretion of the cholesterol-modified hedgehog ligand.
Evidence for a role of vertebrate Disp1 in long-range Shh signaling.
Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched.
Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling.
Zebrafish con/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development.
CHE-14, a protein with a sterol-sensing domain, is required for apical sorting in C. elegans ectodermal epithelial cells.
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
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Two human families carried truncating DISP1 variants associated with craniofacial microforms of holoprosencephaly; both affected daughters inherited the variant from a clinically unaffected mother.
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The corresponding truncations impaired SHH export when modeled in murine Disp1 in Drosophila S2R+ cells; wild-type human DISP1 was not functional in that assay system.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
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The cohort reports 23 DISP1 variants in 25 individuals with midline craniofacial defects, predominantly holoprosencephaly microforms, including monoallelic loss-of-function and biallelic missense variants.
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In severe holoprosencephaly cases, DISP1 variants were commonly accompanied by a variant in another holoprosencephaly-associated gene.