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Q86YV9 (HPS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 6 protein
Alternative name(s):
Ruby-eye protein homolog
Short name=Ru
Gene names
Name:HPS6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length775 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Ref.8

Subunit structure

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. Ref.6 Ref.7 Ref.9

Subcellular location

Microsome membrane. Cytoplasmcytosol. Early endosome membrane Ref.6 Ref.9.

Tissue specificity

Ubiquitous.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8

Sequence caution

The sequence BAB15378.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 775775Hermansky-Pudlak syndrome 6 protein
PRO_0000084056

Sequences

Sequence LengthMass (Da)Tools
Q86YV9 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: B990A23DD0B00A30

FASTA77582,975
        10         20         30         40         50         60 
MKRSGTLRLL SDLSAFGGAA RLRELVAGDS AVRVRGSPDG RHLLLLRPPG AVAPQLLVAS 

        70         80         90        100        110        120 
RGPGAELERA WPAGQPSPLD AFFLPWPARP ALVLVWESGL AEVWGAGVGP GWRPLQSTEL 

       130        140        150        160        170        180 
CPGGGARVVA VAALRGRLVW CEERQARAEG PSGSPAAAFS HCVCVRTLEP SGEASTSLGR 

       190        200        210        220        230        240 
THVLLHHCPA FGLLASCRQL FLVPTATTWP GVAHVLLIWS PGKGKVMVAA PRLGLSYSKS 

       250        260        270        280        290        300 
LNPGRGDTWD FRTLLRGLPG LLSPREPLAV HTWAPTPQGL LLLDFGGTVS LLQSHGGTRA 

       310        320        330        340        350        360 
VGTLQEAPVG PWGSAALGTF QGTLACVLGS TLELLDMGSG QLLERKVLST DRVHLLEPPA 

       370        380        390        400        410        420 
PGMEDEEELE TRGNLRLLSA LGLFCVGWEA PQGVELPSAK DLVFEEACGY YQRRSLRGAQ 

       430        440        450        460        470        480 
LTPEELRHSS TFRAPQALAS ILQGHLPPSA LLTMLRTELR DYRGLEQLKA QLVAGDDEEA 

       490        500        510        520        530        540 
GWTELAEQEV ARLLRTELIG DQLAQLNTVF QALPTAAWGA TLRALQLQLD GNGKLRSQAP 

       550        560        570        580        590        600 
PDVWKKVLGG ITAGKEPPNG ILPPFELLCQ CLCQLEPRWL PPFVELAQQQ GGPGWGAGGP 

       610        620        630        640        650        660 
GLPLYRRALA VLGEEGTRPE ALELELLLSS GRPKAVLQAV GQLVQKEQWD RALDAGLALG 

       670        680        690        700        710        720 
PSSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPELA PAELLLLLRT YLPDEVGPPT 

       730        740        750        760        770 
PFPEPGAEPP LTVGLLKALL EQTGAQGWLS GPVLSPYEDI LWDPSTPPPT PPRDL 

« Hide

References

« Hide 'large scale' references
[1]"Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6."
Zhang Q., Zhao B., Li W., Oiso N., Novak E.K., Rusiniak M.E., Gautam R., Chintala S., O'Brien E.P., Zhang Y., Roe B.A., Elliott R.W., Eicher E.M., Liang P., Kratz C., Legius E., Spritz R.A., O'Sullivan T.N. expand/collapse author list , Copeland N.G., Jenkins N.A., Swank R.T.
Nat. Genet. 33:145-153(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]"A human protein-protein interaction network: a resource for annotating the proteome."
Stelzl U., Worm U., Lalowski M., Haenig C., Brembeck F.H., Goehler H., Stroedicke M., Zenkner M., Schoenherr A., Koeppen S., Timm J., Mintzlaff S., Abraham C., Bock N., Kietzmann S., Goedde A., Toksoez E., Droege A. expand/collapse author list , Krobitsch S., Korn B., Birchmeier W., Lehrach H., Wanker E.E.
Cell 122:957-968(2005) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_079023.2. NM_024747.5.
UniGeneHs.125133.

3D structure databases

ProteinModelPortalQ86YV9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122900. 6 interactions.
IntActQ86YV9. 8 interactions.
MINTMINT-1404759.
STRING9606.ENSP00000299238.

PTM databases

PhosphoSiteQ86YV9.

Polymorphism databases

DMDM47115774.

Proteomic databases

PaxDbQ86YV9.
PRIDEQ86YV9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299238; ENSP00000299238; ENSG00000166189.
GeneID79803.
KEGGhsa:79803.
UCSCuc001kuj.3. human.

Organism-specific databases

CTD79803.
GeneCardsGC10P103815.
HGNCHGNC:18817. HPS6.
HPAHPA040687.
MIM607522. gene.
614075. phenotype.
neXtProtNX_Q86YV9.
Orphanet231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKBPA134989637.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43627.
HOGENOMHOG000237333.
HOVERGENHBG049024.
InParanoidQ86YV9.
OMAFELLCQC.
OrthoDBEOG7NW68V.
PhylomeDBQ86YV9.
TreeFamTF331635.

Gene expression databases

BgeeQ86YV9.
CleanExHS_HPS6.
GenevestigatorQ86YV9.

Family and domain databases

InterProIPR017218. BLOC-2_complex_Hps6_subunit.
[Graphical view]
PIRSFPIRSF037476. BLOC-2_complex_Hps6. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHPS6. human.
GeneWikiHPS6.
GenomeRNAi79803.
NextBio69372.
PROQ86YV9.
SOURCESearch...

Entry information

Entry nameHPS6_HUMAN
AccessionPrimary (citable) accession number: Q86YV9
Secondary accession number(s): Q5VV69, Q9H685
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: June 1, 2003
Last modified: March 19, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM