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Tbio
HPS5
Hermansky-Pudlak syndrome 5 protein

Protein Summary
Description
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000349215
  • ENSP00000265967
  • ENSG00000110756
  • ENST00000396253
  • ENSP00000379552
  • ENST00000438420
  • ENSP00000399590

Symbol
  • AIBP63
  • KIAA1017
  • AIBP63
  • BLOC2S2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.88
transcription factor binding site profile
0.85
tissue sample
0.67
cell line
0.6
transcription factor
0.59


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: 25.44   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 105   (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: 25.44   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 105   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
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