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Q86YV9

- HPS6_HUMAN

UniProt

Q86YV9 - HPS6_HUMAN

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Protein

Hermansky-Pudlak syndrome 6 protein

Gene

HPS6

Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

GO - Molecular functioni

  1. GTP-dependent protein binding Source: BHF-UCL
  2. Rab GTPase binding Source: BHF-UCL

GO - Biological processi

  1. blood coagulation Source: Ensembl
  2. melanocyte differentiation Source: Ensembl
  3. organelle organization Source: Ensembl
  4. protein localization to membrane Source: BHF-UCL
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:18817. HPS6.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-2 complex Source: FlyBase
  2. endoplasmic reticulum Source: UniProtKB-KW
  3. endosome Source: UniProtKB-KW
  4. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Hermansky-Pudlak syndrome 6 (HPS6) [MIM:614075]: A 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

MIMi614075. phenotype.
Orphaneti231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKBiPA134989637.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 775775Hermansky-Pudlak syndrome 6 proteinPRO_0000084056Add
BLAST

Proteomic databases

MaxQBiQ86YV9.
PaxDbiQ86YV9.
PRIDEiQ86YV9.

PTM databases

PhosphoSiteiQ86YV9.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ86YV9.
CleanExiHS_HPS6.
GenevestigatoriQ86YV9.

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. Directly interacts with HPS5. Interacts with biogenesis of lysosome-related organelles complex-1 (BLOC1). Interacts with AP-3 complex. Interacts with MNAT1 Probable.3 Publications

Protein-protein interaction databases

BioGridi122900. 7 interactions.
IntActiQ86YV9. 8 interactions.
MINTiMINT-1404759.
STRINGi9606.ENSP00000299238.

Structurei

3D structure databases

ProteinModelPortaliQ86YV9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG43627.
GeneTreeiENSGT00390000001546.
HOGENOMiHOG000237333.
HOVERGENiHBG049024.
InParanoidiQ86YV9.
OMAiFELLCQC.
OrthoDBiEOG7NW68V.
PhylomeDBiQ86YV9.
TreeFamiTF331635.

Family and domain databases

InterProiIPR017218. BLOC-2_complex_Hps6_subunit.
[Graphical view]
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 BAB15378.1 differs from that shown. Reason: Erroneous initiation.

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF536238 mRNA. Translation: AAO25965.1.
AL500527 Genomic DNA. Translation: CAH72214.1.
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.3. human.

Polymorphism databases

DMDMi47115774.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF536238 mRNA. Translation: AAO25965.1 .
AL500527 Genomic DNA. Translation: CAH72214.1 .
CH471066 Genomic DNA. Translation: EAW49726.1 .
BC011594 mRNA. Translation: AAH11594.2 .
BC014993 mRNA. Translation: AAH14993.2 .
AK026154 mRNA. Translation: BAB15378.1 . Different initiation.
CCDSi CCDS7527.1.
RefSeqi NP_079023.2. NM_024747.5.
UniGenei Hs.125133.

3D structure databases

ProteinModelPortali Q86YV9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122900. 7 interactions.
IntActi Q86YV9. 8 interactions.
MINTi MINT-1404759.
STRINGi 9606.ENSP00000299238.

PTM databases

PhosphoSitei Q86YV9.

Polymorphism databases

DMDMi 47115774.

Proteomic databases

MaxQBi Q86YV9.
PaxDbi Q86YV9.
PRIDEi Q86YV9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299238 ; ENSP00000299238 ; ENSG00000166189 .
GeneIDi 79803.
KEGGi hsa:79803.
UCSCi uc001kuj.3. human.

Organism-specific databases

CTDi 79803.
GeneCardsi GC10P103815.
GeneReviewsi HPS6.
HGNCi HGNC:18817. HPS6.
HPAi HPA040687.
MIMi 607522. gene.
614075. phenotype.
neXtProti NX_Q86YV9.
Orphaneti 231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKBi PA134989637.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43627.
GeneTreei ENSGT00390000001546.
HOGENOMi HOG000237333.
HOVERGENi HBG049024.
InParanoidi Q86YV9.
OMAi FELLCQC.
OrthoDBi EOG7NW68V.
PhylomeDBi Q86YV9.
TreeFami TF331635.

Miscellaneous databases

ChiTaRSi HPS6. human.
GeneWikii HPS6.
GenomeRNAii 79803.
NextBioi 69372.
PROi Q86YV9.
SOURCEi Search...

Gene expression databases

Bgeei Q86YV9.
CleanExi HS_HPS6.
Genevestigatori Q86YV9.

Family and domain databases

InterProi IPR017218. BLOC-2_complex_Hps6_subunit.
[Graphical view ]
PIRSFi PIRSF037476. BLOC-2_complex_Hps6. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN HPS6.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 368-775.
    Tissue: Kidney.
  6. "Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6."
    Di Pietro S.M., Falcon-Perez J.M., Dell'Angelica E.C.
    Traffic 5:276-283(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH HPS3 AND HPS5.
  7. Cited for: INTERACTION WITH MNAT1.
  8. "A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics."
    Schreyer-Shafir N., Huizing M., Anikster Y., Nusinker Z., Bejarano-Achache I., Maftzir G., Resnik L., Helip-Wooley A., Westbroek W., Gradstein L., Rosenmann A., Blumenfeld A.
    Hum. Mutat. 27:1158-1158(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN HPS6.
  9. "BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes."
    Di Pietro S.M., Falcon-Perez J.M., Tenza D., Setty S.R., Marks M.S., Raposo G., Dell'Angelica E.C.
    Mol. Biol. Cell 17:4027-4038(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BLOC1 COMPLEX AND AP-3 COMPLEX, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHPS6_HUMAN
AccessioniPrimary (citable) accession number: Q86YV9
Secondary accession number(s): Q5VV69, Q9H685
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 93 of the entry and version 1 of the sequence. [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

External Data

Dasty 3