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Protein

Hermansky-Pudlak syndrome 6 protein

Gene

HPS6

Organism
Homo sapiens (Human)
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 (PubMed:17041891). 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).2 Publications

GO - Molecular functioni

  • GTP-dependent protein binding Source: ParkinsonsUK-UCL
  • Rab GTPase binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • blood coagulation Source: Ensembl
  • lysosome localization Source: UniProtKB
  • melanocyte differentiation Source: Ensembl
  • organelle organization Source: Ensembl
  • protein localization to membrane Source: ParkinsonsUK-UCL

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 6 protein
Alternative name(s):
Ruby-eye protein homolog
Short name:
Ru
Gene namesi
Name:HPS6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000166189.7
HGNCiHGNC:18817 HPS6
MIMi607522 gene
neXtProtiNX_Q86YV9

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

Hermansky-Pudlak syndrome 6 (HPS6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous 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.
See also OMIM:614075

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi79803
GeneReviewsiHPS6
MalaCardsiHPS6
MIMi614075 phenotype
OpenTargetsiENSG00000166189
Orphaneti231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA134989637

Polymorphism and mutation databases

BioMutaiHPS6
DMDMi47115774

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840561 – 775Hermansky-Pudlak syndrome 6 proteinAdd BLAST775

Proteomic databases

EPDiQ86YV9
MaxQBiQ86YV9
PaxDbiQ86YV9
PeptideAtlasiQ86YV9
PRIDEiQ86YV9
ProteomicsDBi70478

PTM databases

iPTMnetiQ86YV9
PhosphoSitePlusiQ86YV9

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000166189
CleanExiHS_HPS6
GenevisibleiQ86YV9 HS

Organism-specific databases

HPAiHPA040687

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 (PubMed:15030569, PubMed:25189619). Interacts with biogenesis of lysosome-related organelles complex-1 (BLOC1). Interacts with AP-3 complex (PubMed:16837549). Interacts with MNAT1 (Probable). Interacts with DCTN1 and dynein intermediate chain (PubMed:25189619).1 Publication3 Publications

GO - Molecular functioni

  • GTP-dependent protein binding Source: ParkinsonsUK-UCL
  • Rab GTPase binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi122900, 9 interactors
CORUMiQ86YV9
IntActiQ86YV9, 11 interactors
MINTiQ86YV9
STRINGi9606.ENSP00000299238

Structurei

3D structure databases

ProteinModelPortaliQ86YV9
SMRiQ86YV9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IKBU Eukaryota
ENOG41102BX LUCA
GeneTreeiENSGT00390000001546
HOGENOMiHOG000237333
HOVERGENiHBG049024
InParanoidiQ86YV9
KOiK20192
OMAiFELLCQC
OrthoDBiEOG091G02CU
PhylomeDBiQ86YV9
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.

Q86YV9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKRSGTLRLL SDLSAFGGAA RLRELVAGDS AVRVRGSPDG RHLLLLRPPG
60 70 80 90 100
AVAPQLLVAS RGPGAELERA WPAGQPSPLD AFFLPWPARP ALVLVWESGL
110 120 130 140 150
AEVWGAGVGP GWRPLQSTEL CPGGGARVVA VAALRGRLVW CEERQARAEG
160 170 180 190 200
PSGSPAAAFS HCVCVRTLEP SGEASTSLGR THVLLHHCPA FGLLASCRQL
210 220 230 240 250
FLVPTATTWP GVAHVLLIWS PGKGKVMVAA PRLGLSYSKS LNPGRGDTWD
260 270 280 290 300
FRTLLRGLPG LLSPREPLAV HTWAPTPQGL LLLDFGGTVS LLQSHGGTRA
310 320 330 340 350
VGTLQEAPVG PWGSAALGTF QGTLACVLGS TLELLDMGSG QLLERKVLST
360 370 380 390 400
DRVHLLEPPA PGMEDEEELE TRGNLRLLSA LGLFCVGWEA PQGVELPSAK
410 420 430 440 450
DLVFEEACGY YQRRSLRGAQ LTPEELRHSS TFRAPQALAS ILQGHLPPSA
460 470 480 490 500
LLTMLRTELR DYRGLEQLKA QLVAGDDEEA GWTELAEQEV ARLLRTELIG
510 520 530 540 550
DQLAQLNTVF QALPTAAWGA TLRALQLQLD GNGKLRSQAP PDVWKKVLGG
560 570 580 590 600
ITAGKEPPNG ILPPFELLCQ CLCQLEPRWL PPFVELAQQQ GGPGWGAGGP
610 620 630 640 650
GLPLYRRALA VLGEEGTRPE ALELELLLSS GRPKAVLQAV GQLVQKEQWD
660 670 680 690 700
RALDAGLALG PSSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPELA
710 720 730 740 750
PAELLLLLRT YLPDEVGPPT PFPEPGAEPP LTVGLLKALL EQTGAQGWLS
760 770
GPVLSPYEDI LWDPSTPPPT PPRDL
Length:775
Mass (Da):82,975
Last modified:June 1, 2003 - v1
Checksum:iB990A23DD0B00A30
GO

Sequence cautioni

The sequence BAB15378 differs from that shown. Reason: Erroneous initiation.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF536238 mRNA Translation: AAO25965.1
AL500527 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49726.1
BC011594 mRNA Translation: AAH11594.2
BC014993 mRNA Translation: AAH14993.2
AK026154 mRNA Translation: BAB15378.1 Different initiation.
CCDSiCCDS7527.1
RefSeqiNP_079023.2, NM_024747.5
UniGeneiHs.125133

Genome annotation databases

EnsembliENST00000299238; ENSP00000299238; ENSG00000166189
GeneIDi79803
KEGGihsa:79803
UCSCiuc001kuj.4 human

Similar proteinsi

Entry informationi

Entry nameiHPS6_HUMAN
AccessioniPrimary (citable) accession number: Q86YV9
Secondary accession number(s): Q5VV69, Q9H685
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: June 1, 2003
Last modified: June 20, 2018
This is version 122 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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