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Protein Page:
HPS4 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitylation
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

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.
Chromosomal Location of Human Ortholog: 22cen-q12.3
Cellular Component: cytoplasm; lysosome; melanosome; membrane; platelet dense granule
Molecular Function: protein binding; protein dimerization activity; protein homodimerization activity
Biological Process: hemostasis; lysosome organization and biogenesis; positive regulation of eye pigmentation; protein stabilization; protein targeting
Disease: Hermansky-pudlak Syndrome 4
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 Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment



 LTP 

LTP: 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.


 HTP 

HTP: 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 T166 SLWNLDQTkVEPLLL
0 1 K167‑ub LWNLDQTkVEPLLLL
0 1 S257‑p VTKEEAIsLHEFPVE
0 5 S272‑p QMTRSLAsPAGLQDG
0 9 S355‑p EVLGLSSsLGKELVF
0 8 C515 CSSGSANCQGAGPSA
0 2 G519 SANCQGAGPSADGIS
0 2 T530‑p DGISSRLtPAEsCMG
0 1 S534‑p SRLtPAEsCMGLVRM
0 1 Y544‑p GLVRMNLytHCVKGL
0 1 T545‑p LVRMNLytHCVKGLV
0 1 A596 TLPRDEAASTSSTYN
  HPS4 iso3  
S6‑p __MAPLCsLARWNYF
T161 SLWNLDQTKVEPLLL
K162 LWNLDQTKVEPLLLL
S252 VTKEEAISLHEFPVE
S267 QMTRSLASPAGLQDG
S350 EVLGLSSSLGKELVF
C510 CSSGSANCQGAGPSA
G514 SANCQGAGPSADGIS
T525 DGISSRLTPAESCMG
S529 SRLTPAESCMGLVRM
Y539 GLVRMNLYTHCVKGL
T540 LVRMNLYTHCVKGLV
A591 TLPRDEAASTSSTYN
  mouse

 
- gap
T166‑p ALWNLDRtKVEPLLL
K167 LWNLDRtKVEPLLLL
S257 LSEEEVASLHEFPVE
S272 HETRLQGSSVQYPPW
R343 QGSGLSSRLQKELCL
S478‑p RSSRSPDsPGPsPSA
S482‑p SPDsPGPsPSADRTG
S493 DRTGFKPSPSGRHAG
R497 FKPSPSGRHAGLVPM
Y507 GLVPMNLYTHSVNGL
T508 LVPMNLYTHSVNGLV
S559 TLPRDEASLTSSTYN
  rat

 
- gap
- gap
- gap
- gap
- gap
- gap
S119 RSSHSADSQGPSPSA
S123 SADSQGPSPSADRTG
S134 DRTGFNPSPSGPHAG
P138 FNPSPSGPHAGLMPM
Y148 GLMPMNLYTHSVNGL
T149 LMPMNLYTHSVNGLV
S200‑p TLPRDETsPTGSTYN
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