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Protein

Hermansky-Pudlak syndrome 6 protein homolog

Gene

Hps6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:2181763 Hps6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication

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 Expressed in 128 organ(s), highest expression level in primary oocyte
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
CORUMiQ8BLY7
IntActiQ8BLY7, 1 interactor
MINTiQ8BLY7
STRINGi10090.ENSMUSP00000096991

Structurei

3D structure databases

SMRiQ8BLY7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR017218 BLOC-2_complex_Hps6_subunit
PANTHERiPTHR14696 PTHR14696, 1 hit
PfamiView protein in Pfam
PF15702 HPS6, 1 hit
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

Similar proteinsi

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

SMRiQ8BLY7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203035, 1 interactor
CORUMiQ8BLY7
IntActiQ8BLY7, 1 interactor
MINTiQ8BLY7
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

PROiPR:Q8BLY7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000074811 Expressed in 128 organ(s), highest expression level in primary oocyte
CleanExiMM_HPS6
GenevisibleiQ8BLY7 MM

Family and domain databases

InterProiView protein in InterPro
IPR017218 BLOC-2_complex_Hps6_subunit
PANTHERiPTHR14696 PTHR14696, 1 hit
PfamiView protein in Pfam
PF15702 HPS6, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: July 27, 2011
Last modified: September 12, 2018
This is version 104 of the entry and version 3 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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