Tbio HPS1 Hermansky-Pudlak syndrome 1 protein

Protein Summary

Description

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Uniprot Accession IDs

• Q92902
• A8MRT2
• O15402
• O15502
• Q5TAA3
• Q8WXE5

Gene Name

• HPS1

Ensembl ID

• ENST00000325103
• ENSP00000326649
• ENSG00000107521
• ENST00000338546
• ENSP00000343638
• ENST00000361490
• ENSP00000355310
• ENST00000613394
• ENSP00000477926

Symbol

• HPS
• HPS
• BLOC3S1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.93
disease perturbation	0.9
virus perturbation	0.76
cellular component	0.69
histone modification site profile	0.68

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2.52   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 111   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2.52   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 111   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0