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Protein Page:
HPS6 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
HPS6 May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6). 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. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Cellular Component: membrane; early endosome membrane; endoplasmic reticulum
Molecular Function: GTP-dependent protein binding; Rab GTPase binding
Biological Process: organelle organization and biogenesis; melanocyte differentiation; blood coagulation
Reference #:  Q86YV9 (UniProtKB)
Alt. Names/Synonyms: FLJ22501; Hermansky-Pudlak syndrome 6; Hermansky-Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome-6 protein (HPS6); HPS6; MGC20522; RP11-302K17.1; Ru; Ruby-eye protein homolog
Gene Symbols: HPS6
Molecular weight: 82,975 Da
Basal Isoelectric point: 5.92  Predict pI for various phosphorylation states
Select Structure to View Below

HPS6

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


 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

 
0 2 S14 LRLLSDLSAFGGAAR
0 1 G17 LSDLSAFGGAARLRE
0 2 K239-ub RLGLSYSkSLNPGRG
0 1 K346-ub SGQLLERkVLSTDRV
0 3 K469-ub YRGLEQLkAQLVAGD
0 2 K534-ub LQLDGNGkLRSQAPP
0 1 K545-ub QAPPDVWkKVLGGIT
0 1 K646-ub AVGQLVQkEQWDRAL
0 1 K672-ub LLRSEIFkLLLAEFA
0 1 T766-p DILWDPStPPPTPPR
  mouse

 
S14-p LRLLSDLsNFtGAAR
T17-p LSDLsNFtGAARLRE
K239 SLGLSHSKSLNPKQG
K346 SGRLLEKKVLSTDRV
K469 YRSIEQLKAQLVAGD
R534 LQPDRSGRLRSQAPP
K545 QAPPDVWKKVLRAPT
K646 AVRQLIKKEEWERAL
K672 LLRSEIFKLLLAEFA
T765 DILWDPGTPPPTPPR
  rat

 
S14 LRLLSDLSNFTGAAR
T17 LSDLSNFTGAARLRE
K239 SLGLSHSKSLNPKQG
K346 SGRLLERKVLSTDRV
K469 YRSIEQLKAQLVAGD
R534 LQPDRSGRLRSQAPP
K545 QAPPDVWKKVLRAPT
K646 AVRQLIKKEQWERAL
N672 LLRSEIFNLLLAEFA
T769 DILWDSGTPPPTPPR
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