Gene table of AP3B1 : adaptor related protein complex 3 beta 1 subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with AP3B1OMIM linkNumber of associated genesgenes
PS203300HERMANSKY-PUDLAK SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 9BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4

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Annotation of the gene AP3B1

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
KEGG pathwayKEGG IDKEGG IC
Lysosomehsa041425.78
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
GTP-dependent protein bindingGO:00307426.91
enzyme bindingGO:00198992.27
protein phosphatase bindingGO:00199034.93
phosphatase bindingGO:00199024.63
bindingGO:00054880.18
protein bindingGO:00055150.46