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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
Gene Name
Ensembl ID
  • ENST00000336873
  • ENSP00000338457
  • ENSG00000100099
  • ENST00000398145
  • ENSP00000381213
  • ENST00000402105
  • ENSP00000384185

Symbol
  • KIAA1667
  • LE
  • BLOC3S2
Illumination Graph
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: 33.32   (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: 33.32   (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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (36)
HPS1
Tbio
Novelty:  0.44609665
Score:  0.986
Data Source:  Reactome,STRINGDB
HPS3
Tbio
Novelty:  0.03561482
Score:  0.975
Data Source:  STRINGDB
RAB38
Tbio
Family:  Enzyme
Novelty:  0.02651645
Score:  0.969
Data Source:  Reactome,STRINGDB
RAB32
Tbio
Family:  Enzyme
Novelty:  0.02514559
Score:  0.967
Data Source:  Reactome,STRINGDB
HPS5
Tbio
Novelty:  0.05155851
Score:  0.959
Data Source:  STRINGDB
BLOC1S3
Tbio
Novelty:  0.08465735
Score:  0.958
Data Source:  STRINGDB
HPS6
Tbio
Novelty:  0.04680462
Score:  0.949
Data Source:  STRINGDB
DTNBP1
Tbio
Novelty:  0.00341619
Score:  0.93
Data Source:  STRINGDB
BLOC1S6
Tbio
Novelty:  0.01845286
Score:  0.912
Data Source:  STRINGDB
CHML
Tbio
Family:  Enzyme
Novelty:  0.00509709
Score:  0.9
Data Source:  Reactome,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (4)
Membrane Trafficking (R-HSA-199991)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Membrane Trafficking
Reactome
RAB GEFs exchange GTP for GDP on RABs
Reactome
Rab regulation of trafficking
Reactome
Vesicle-mediated transport
Name
Explore in Pharos
Explore in Source
Membrane Trafficking
RAB GEFs exchange GTP for GDP on RABs
Rab regulation of trafficking
Vesicle-mediated transport
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (0)
No GWAS traits found
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
VGNC:8860
458723
Macaque
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
712549
Mouse
MGI:2177742
192232
Dog
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
VGNC:41776
486330
Horse
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
VGNC:18862
100059474
Species
Name
OMA
EggNOG
Inparanoid
Chimp
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Macaque
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Mouse
Dog
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Horse
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Publication Statistics
PubMed Score 33.32
PubMed score by year
PubTator Score 18.36
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title