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Protein Page:
HPS4 (human)

Overview
HPS4 May function in the pathway of organelle biogenesis. Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Cellular Component: membrane; platelet dense granule; lysosome; cytoplasm; melanosome
Molecular Function: protein dimerization activity; protein binding; protein homodimerization activity
Biological Process: protein stabilization; positive regulation of eye pigmentation; lysosome organization and biogenesis; hemostasis; melanocyte differentiation; blood coagulation; protein targeting
Reference #:  Q9NQG7 (UniProtKB)
Alt. Names/Synonyms: bK1048E9.4; bK1048E9.5; Hermansky-Pudlak syndrome 4; Hermansky-Pudlak syndrome 4 protein; HPS4; KIAA1667; LE; Light-ear protein homolog
Gene Symbols: HPS4
Molecular weight: 76,919 Da
Basal Isoelectric point: 5.26  Predict pI for various phosphorylation states
Select Structure to View Below

HPS4

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 2 - gap
0 1 S272-p QMTRSLAsPAGLQDG
0 4 S355-p EVLGLSSsLGKELVF
0 4 C515 CSSGSANCQGAGPSA
0 1 - under review  
  HPS4 iso3  
S6-p __MAPLCsLARWNYF
S267 QMTRSLASPAGLQDG
S350 EVLGLSSSLGKELVF
C510 CSSGSANCQGAGPSA
- under review  
  mouse

 
- gap
- under review  
R343 QGSGLSSRLQKELCL
S478-p RSSRSPDsPGPsPSA
S482-p SPDsPGPsPSADRTG
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