Q86YV9 (HPS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hermansky-Pudlak syndrome 6 protein

Alternative name(s):
Ruby-eye protein homolog
Short name=Ru

Gene names

Name:

HPS6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	775 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytosol. 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.

Ontologies

Keywords
Cellular component	Cytoplasm Endoplasmic reticulum Endosome Membrane Microsome
Disease	Albinism Hermansky-Pudlak syndrome
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Inferred from electronic annotation. Source: Compara melanocyte differentiation Inferred from electronic annotation. Source: Compara organelle organization Inferred from electronic annotation. Source: Compara
Cellular_component	cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell early endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 775	775	Hermansky-Pudlak syndrome 6 protein		PRO_0000084056

Sequences

	Sequence		Length	Mass (Da)
	Q86YV9 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: B990A23DD0B00A30	FASTA	775	82,975
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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

GeneReviews

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.
IPI	IPI00015505.
RefSeq	NP_079023.2. NM_024747.5.
UniGene	Hs.125133.
3D structure databases
ProteinModelPortal	Q86YV9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86YV9. 5 interactions.
MINT	MINT-1404759.
STRING	9606.ENSP00000299238.
PTM databases
PhosphoSite	Q86YV9.
Polymorphism databases
DMDM	47115774.
Proteomic databases
PaxDb	Q86YV9.
PRIDE	Q86YV9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299238; ENSP00000299238; ENSG00000166189.
GeneID	79803.
KEGG	hsa:79803.
UCSC	uc001kuj.3. human.
Organism-specific databases
CTD	79803.
GeneCards	GC10P103815.
HGNC	HGNC:18817. HPS6.
HPA	HPA040687.
MIM	607522. gene. 614075. phenotype.
neXtProt	NX_Q86YV9.
Orphanet	231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKB	PA134989637.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG43627.
HOGENOM	HOG000237333.
HOVERGEN	HBG049024.
InParanoid	Q86YV9.
OMA	FELLCQC.
OrthoDB	EOG43JC46.
PhylomeDB	Q86YV9.
Gene expression databases
Bgee	Q86YV9.
CleanEx	HS_HPS6.
Genevestigator	Q86YV9.
GermOnline	ENSG00000166189. Homo sapiens.
Family and domain databases
InterPro	IPR017218. BLOC-2_complex_Hps6_subunit. [Graphical view]
PIRSF	PIRSF037476. BLOC-2_complex_Hps6. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	HPS6. human.
GenomeRNAi	79803.
NextBio	69372.
SOURCE	Search...

Entry information

Entry name

HPS6_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.