Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:12191018

Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.

Human pallidin associates with a heterooligomer containing Muted; muted mouse fibroblasts have reduced pallidin.

PMID:15102850

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Endogenous protein studies and an interaction network establish the eight-subunit BLOC-1 assembly.

PMID:17182842

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

Human MuHA rescues BLOC-1 stability, pigment and Tyrp1 cargo sorting in muted mouse melanocytes.

PMID:22203680

Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Reconstituted human BLOC-1 contains Muted in the octamer; selected full-text Results demonstrate whole-complex AP-3 pull-down, without resolving a MUTED-specific binding interface.

PMID:25416956

A proteome-scale map of the human interactome network.

A systematic human binary interactome provides the curated TSNAX interaction.

PMID:32296183

A reference map of the human binary protein interactome.

HuRI provides human binary interaction evidence for the source-listed partners.

PMID:33961781

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

BioPlex affinity-purification maps support complex-associated interactions in human cell lines.

PMID:40205054

Multimodal cell maps as a foundation for structural and functional genomics.

A multimodal human cell map provides the curated BLOC-1 partner associations.

PMID:21998198

The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse.

Muted-containing complexes and muted-null mouse phenotypes support neuronal cargo sorting.

PMID:19546860

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.

BLOC-1 deficiency affects neurite extension in primary mouse hippocampal neurons.

UniProt:Q8TDH9

UniProtKB Q8TDH9 (BL1S5_HUMAN): BLOC1S5

Reviewed human MUTED entry records BLOC-1 membership, three alternative products, and HPS11 association.

"Component of the BLOC-1 complex"

PMID:32565547

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Patient 1 platelets show loss or reduction of other BLOC-1 subunits, supporting assembly destabilization associated with the BLOC1S5 deletion.

"levels of both Pallidin and Dysbindin are reduced or absent"
HA-tagged full-length human BLOC1S5 restores BLOC-1 stability, pigmentation and TYRP1 delivery in muted mouse melanocytes, whereas patient-derived truncated constructs fail to rescue.

PMID:15109702

Gravity receptor function in mice with graded otoconial deficiencies.

The study compares vestibular responses, otoconial deficits and swimming behavior in mouse strains including muted; behavior can adapt despite profound sensory loss.

PMID:5367369

Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV.

The selected publisher first-page text reports variable otolith loss in muted mice with a normal bony labyrinth; the canonical cache provides citation metadata only.