Gene table of BLOC1S3 : biogenesis of lysosomal organelles complex 1 subunit 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with BLOC1S3OMIM linkNumber of associated genesgenes
PS203300HERMANSKY-PUDLAK SYNDROMEOMIM link to OMIM 9BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4

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Annotation of the gene BLOC1S3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
trans-Golgi Network Vesicle BuddingR-HSA-1999926.85
Golgi Associated Vesicle BiogenesisR-HSA-4327227.23
Clathrin derived vesicle buddingR-HSA-4218376.85
Vesicle-mediated transportR-HSA-56536564.33
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
protein transporter activityGO:00085655.17
substrate-specific transporter activityGO:00228922.72
macromolecule transmembrane transporter activityGO:00228846.65
transporter activityGO:00052152.57
protein transmembrane transporter activityGO:00083206.79
transmembrane transporter activityGO:00228572.82
bindingGO:00054880.18
protein bindingGO:00055150.46