HPS6 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of HPS6 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of HPS6 at tissue level.

III. Associated gene sets

GO_0046907Biological processintracellular transport
GO_0007596Biological processblood coagulation
GO_0006996Biological processorganelle organization
GO_0060155Biological processplatelet dense granule organization
GO_0032418Biological processlysosome localization
GO_0055088Biological processlipid homeostasis
GO_0006629Biological processlipid metabolic process
GO_0072657Biological processprotein localization to membrane
GO_1903232Biological processmelanosome assembly
GO_0009306Biological processprotein secretion
GO_0031084Cellular componentBLOC-2 complex
GO_0016020Cellular componentmembrane
GO_0005769Cellular componentearly endosome
GO_0031901Cellular componentearly endosome membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0005829Cellular componentcytosol
GO_0005765Cellular componentlysosomal membrane
GO_0030742Molecular functionGTP-dependent protein binding
GO_0031267Molecular functionsmall GTPase binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameHPS6
Protein nameBLOC-2 complex member HPS6 (Hermansky-Pudlak syndrome 6 protein) (Ruby-eye protein homolog) (Ru)
Synonyms
DescriptionFUNCTION: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules . Acts as a cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning . .

AccessionsENST00000299238.7
Q86YV9