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Protein

Hermansky-Pudlak syndrome 6 protein homolog

Gene

Hps6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (By similarity). Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • blood coagulation Source: MGI
  • lysosome localization Source: UniProtKB
  • melanocyte differentiation Source: MGI
  • organelle organization Source: MGI
  • pigmentation Source: MGI
  • protein localization to membrane Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 6 protein homolog
Alternative name(s):
Ruby-eye protein
Short name:
Ru
Gene namesi
Name:Hps6
Synonyms:Ru
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:2181763. Hps6.

Subcellular locationi

  • Microsome membrane By similarity
  • Cytoplasmcytosol By similarity
  • Early endosome membrane By similarity
  • Lysosome membrane By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome, Lysosome, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Defects in Hps6 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated "kiss-and-run" fusion at the plasma membrane.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840571 – 805Hermansky-Pudlak syndrome 6 protein homologAdd BLAST805

Proteomic databases

EPDiQ8BLY7.
MaxQBiQ8BLY7.
PaxDbiQ8BLY7.
PeptideAtlasiQ8BLY7.
PRIDEiQ8BLY7.

PTM databases

iPTMnetiQ8BLY7.
PhosphoSitePlusiQ8BLY7.

Expressioni

Tissue specificityi

Widely expressed, with lowest expression in skeletal muscle.

Gene expression databases

BgeeiENSMUSG00000074811.
CleanExiMM_HPS6.
GenevisibleiQ8BLY7. MM.

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 and HPS3. Interacts with biogenesis of lysosome-related organelles complex-1 (BLOC1). Interacts with dynein intermediate chain (By similarity). Interacts with AP-3 complex (PubMed:19010779). Interacts with DCTN1 (PubMed:25189619).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi203035. 1 interactor.
IntActiQ8BLY7. 1 interactor.
MINTiMINT-4097952.
STRINGi10090.ENSMUSP00000096991.

Structurei

3D structure databases

ProteinModelPortaliQ8BLY7.
SMRiQ8BLY7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IKBU. Eukaryota.
ENOG41102BX. LUCA.
GeneTreeiENSGT00390000001546.
HOGENOMiHOG000237333.
HOVERGENiHBG049024.
InParanoidiQ8BLY7.
KOiK20192.
OMAiFELLCQC.
OrthoDBiEOG091G02CU.
TreeFamiTF331635.

Family and domain databases

InterProiIPR017218. BLOC-2_complex_Hps6_subunit.
[Graphical view]
PfamiPF15702. HPS6. 1 hit.
[Graphical view]
PIRSFiPIRSF037476. BLOC-2_complex_Hps6. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8BLY7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKRAGTLRLL SDLSNFTGAA RLRELLAGDP AVLVRCSPDG RHLLLLRPPG
60 70 80 90 100
SPAPQLLVAV RGPGLPLERA WPEGDPSPLD VFFVPWLARP ALILVWESGL
110 120 130 140 150
AEVWGVGMEP GWKLLQSTEL CPDGGARVMA VAATRGRLVW CEERQPGVKD
160 170 180 190 200
QPEQLSTAFS HRVCFKTLET SGEAGTKLGC THILLHHCPL FGLIASRKDL
210 220 230 240 250
FLVPTTNTWS GVAHLLLIWS PSKGKVIVAA PSLGLSHSKS LNPKQGDTWD
260 270 280 290 300
FRTLLRGLPG FLSPREPLAV HTWAPSSQGL LLLDLKGKVS LVQCHGGTRT
310 320 330 340 350
VGILQEAPVS LKGSAALGTF HGTLACVLGS TLELLDMSSG RLLEKKVLST
360 370 380 390 400
DRVHLLEPPA PGMKNEEELE TRGALRLLSA LGLFCVCWET PQGLELPSDK
410 420 430 440 450
DLVFEEACGY YQRRSLRGTQ LTPEELRHNS MFRAPQALAS ILQGHLPPST
460 470 480 490 500
LLTTLRAELR DYRSIEQLKA QLVAGDDEEA GWTELAEHEV ARLLRTQLTG
510 520 530 540 550
DQLAQFNTIF QALPTAAWGA TLQALQLQPD RSGRLRSQAP PDVWKKVLRA
560 570 580 590 600
PTAGKEHPNG ILPPFELLCQ CLGQLEPQWL PPFVKLAQQQ GGPGWGAEGP
610 620 630 640 650
SLPLYRRALA VLGEEGKRPE ALELELLLGS GRPKAVLQAV RQLIKKEEWE
660 670 680 690 700
RALEAGLALD ASSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPEVA
710 720 730 740 750
PHELLLLLRT HLPDDEGTTP FPEPGAEPPL TVGLVRALLE QTGAQGRPSG
760 770 780 790 800
PVQSTYEDIL WDPGTPPPTP PRGPTASLPA SDHPGQEAWV PPGQGLGAAD

VGVHL
Length:805
Mass (Da):87,341
Last modified:July 27, 2011 - v3
Checksum:i503BCD0B3760D95A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti137R → S in BAC27030 (PubMed:16141072).Curated1
Sequence conflicti384F → L in AAH34055 (PubMed:15489334).Curated1
Sequence conflicti667R → G in BAC27030 (PubMed:16141072).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti187 – 189Missing in allele ru; HPS-like mutant. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF536239 mRNA. Translation: AAO25966.1.
AK030582 mRNA. Translation: BAC27030.1.
AK040849 mRNA. Translation: BAC30719.1.
AK159588 mRNA. Translation: BAE35208.1.
BC034055 mRNA. Translation: AAH34055.1.
CCDSiCCDS29869.1.
RefSeqiNP_789742.2. NM_176785.3.
UniGeneiMm.101110.

Genome annotation databases

EnsembliENSMUST00000099393; ENSMUSP00000096991; ENSMUSG00000074811.
GeneIDi20170.
KEGGimmu:20170.
UCSCiuc008hrx.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF536239 mRNA. Translation: AAO25966.1.
AK030582 mRNA. Translation: BAC27030.1.
AK040849 mRNA. Translation: BAC30719.1.
AK159588 mRNA. Translation: BAE35208.1.
BC034055 mRNA. Translation: AAH34055.1.
CCDSiCCDS29869.1.
RefSeqiNP_789742.2. NM_176785.3.
UniGeneiMm.101110.

3D structure databases

ProteinModelPortaliQ8BLY7.
SMRiQ8BLY7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203035. 1 interactor.
IntActiQ8BLY7. 1 interactor.
MINTiMINT-4097952.
STRINGi10090.ENSMUSP00000096991.

PTM databases

iPTMnetiQ8BLY7.
PhosphoSitePlusiQ8BLY7.

Proteomic databases

EPDiQ8BLY7.
MaxQBiQ8BLY7.
PaxDbiQ8BLY7.
PeptideAtlasiQ8BLY7.
PRIDEiQ8BLY7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000099393; ENSMUSP00000096991; ENSMUSG00000074811.
GeneIDi20170.
KEGGimmu:20170.
UCSCiuc008hrx.2. mouse.

Organism-specific databases

CTDi79803.
MGIiMGI:2181763. Hps6.

Phylogenomic databases

eggNOGiENOG410IKBU. Eukaryota.
ENOG41102BX. LUCA.
GeneTreeiENSGT00390000001546.
HOGENOMiHOG000237333.
HOVERGENiHBG049024.
InParanoidiQ8BLY7.
KOiK20192.
OMAiFELLCQC.
OrthoDBiEOG091G02CU.
TreeFamiTF331635.

Miscellaneous databases

PROiQ8BLY7.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000074811.
CleanExiMM_HPS6.
GenevisibleiQ8BLY7. MM.

Family and domain databases

InterProiIPR017218. BLOC-2_complex_Hps6_subunit.
[Graphical view]
PfamiPF15702. HPS6. 1 hit.
[Graphical view]
PIRSFiPIRSF037476. BLOC-2_complex_Hps6. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHPS6_MOUSE
AccessioniPrimary (citable) accession number: Q8BLY7
Secondary accession number(s): Q3TWQ8, Q8BML5, Q8CIA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: July 27, 2011
Last modified: November 30, 2016
This is version 94 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.