Tbio HPS4 Hermansky-Pudlak syndrome 4 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 component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Uniprot Accession IDs

• Q9NQG7
• B1AHQ4
• Q5H8V6
• Q96LX6
• Q9BY93
• Q9UH37
• Q9UH38

Gene Name

• HPS4

Ensembl ID

• ENST00000336873
• ENSP00000338457
• ENSG00000100099
• ENST00000398145
• ENSP00000381213
• ENST00000402105
• ENSP00000384185

Symbol

• KIAA1667
• LE
• BLOC3S2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.76
histone modification site profile	0.75
transcription factor binding site profile	0.66
cell type or tissue	0.65
tissue	0.63

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: 41.11   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 41   (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: 41.11   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 41   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

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