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Q86YV9

- HPS6_HUMAN

UniProt

Q86YV9 - HPS6_HUMAN

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
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    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

    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. early endosome membrane Source: UniProtKB-SubCell
    3. endoplasmic reticulum Source: UniProtKB-KW
    4. membrane Source: UniProtKB

    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. 6 interactions.
    IntActiQ86YV9. 8 interactions.
    MINTiMINT-1404759.
    STRINGi9606.ENSP00000299238.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86YV9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG43627.
    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

    MKRSGTLRLL SDLSAFGGAA RLRELVAGDS AVRVRGSPDG RHLLLLRPPG    50
    AVAPQLLVAS RGPGAELERA WPAGQPSPLD AFFLPWPARP ALVLVWESGL 100
    AEVWGAGVGP GWRPLQSTEL CPGGGARVVA VAALRGRLVW CEERQARAEG 150
    PSGSPAAAFS HCVCVRTLEP SGEASTSLGR THVLLHHCPA FGLLASCRQL 200
    FLVPTATTWP GVAHVLLIWS PGKGKVMVAA PRLGLSYSKS LNPGRGDTWD 250
    FRTLLRGLPG LLSPREPLAV HTWAPTPQGL LLLDFGGTVS LLQSHGGTRA 300
    VGTLQEAPVG PWGSAALGTF QGTLACVLGS TLELLDMGSG QLLERKVLST 350
    DRVHLLEPPA PGMEDEEELE TRGNLRLLSA LGLFCVGWEA PQGVELPSAK 400
    DLVFEEACGY YQRRSLRGAQ LTPEELRHSS TFRAPQALAS ILQGHLPPSA 450
    LLTMLRTELR DYRGLEQLKA QLVAGDDEEA GWTELAEQEV ARLLRTELIG 500
    DQLAQLNTVF QALPTAAWGA TLRALQLQLD GNGKLRSQAP PDVWKKVLGG 550
    ITAGKEPPNG ILPPFELLCQ CLCQLEPRWL PPFVELAQQQ GGPGWGAGGP 600
    GLPLYRRALA VLGEEGTRPE ALELELLLSS GRPKAVLQAV GQLVQKEQWD 650
    RALDAGLALG PSSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPELA 700
    PAELLLLLRT YLPDEVGPPT PFPEPGAEPP LTVGLLKALL EQTGAQGWLS 750
    GPVLSPYEDI LWDPSTPPPT PPRDL 775
    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. 6 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.
    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

    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 1, 2014
    This is version 92 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