Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8BLY7

- HPS6_MOUSE

UniProt

Q8BLY7 - HPS6_MOUSE

Protein

Hermansky-Pudlak syndrome 6 protein homolog

Gene

Hps6

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 3 (27 Jul 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: MGI

    GO - Biological processi

    1. blood coagulation Source: MGI
    2. melanocyte differentiation Source: MGI
    3. organelle organization Source: MGI
    4. pigmentation Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 6 protein homolog
    Alternative name(s):
    Ruby-eye protein
    Short name:
    Ru
    Gene namesi
    Name:Hps6
    Synonyms:Ru
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 19

    Organism-specific databases

    MGIiMGI:2181763. Hps6.

    Subcellular locationi

    Microsome membrane By similarity. Cytoplasmcytosol By similarity. Early endosome membrane By similarity

    GO - Cellular componenti

    1. BLOC-2 complex Source: Ensembl
    2. early endosome membrane Source: UniProtKB-SubCell
    3. endoplasmic reticulum Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Endosome, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Hps6 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated "kiss-and-run" fusion at the plasma membrane.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 805805Hermansky-Pudlak syndrome 6 protein homologPRO_0000084057Add
    BLAST

    Proteomic databases

    PaxDbiQ8BLY7.
    PRIDEiQ8BLY7.

    PTM databases

    PhosphoSiteiQ8BLY7.

    Expressioni

    Tissue specificityi

    Widely expressed, with lowest expression in skeletal muscle.

    Gene expression databases

    BgeeiQ8BLY7.
    CleanExiMM_HPS6.
    GenevestigatoriQ8BLY7.

    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) By similarity. Interacts with AP-3 complex.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi203035. 1 interaction.
    IntActiQ8BLY7. 1 interaction.
    MINTiMINT-4097952.

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG43627.
    GeneTreeiENSGT00390000001546.
    HOGENOMiHOG000237333.
    HOVERGENiHBG049024.
    InParanoidiQ3TWQ8.
    OMAiFELLCQC.
    OrthoDBiEOG7NW68V.
    TreeFamiTF331635.

    Family and domain databases

    InterProiIPR017218. BLOC-2_complex_Hps6_subunit.
    [Graphical view]
    PIRSFiPIRSF037476. BLOC-2_complex_Hps6. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q8BLY7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKRAGTLRLL SDLSNFTGAA RLRELLAGDP AVLVRCSPDG RHLLLLRPPG    50
    SPAPQLLVAV RGPGLPLERA WPEGDPSPLD VFFVPWLARP ALILVWESGL 100
    AEVWGVGMEP GWKLLQSTEL CPDGGARVMA VAATRGRLVW CEERQPGVKD 150
    QPEQLSTAFS HRVCFKTLET SGEAGTKLGC THILLHHCPL FGLIASRKDL 200
    FLVPTTNTWS GVAHLLLIWS PSKGKVIVAA PSLGLSHSKS LNPKQGDTWD 250
    FRTLLRGLPG FLSPREPLAV HTWAPSSQGL LLLDLKGKVS LVQCHGGTRT 300
    VGILQEAPVS LKGSAALGTF HGTLACVLGS TLELLDMSSG RLLEKKVLST 350
    DRVHLLEPPA PGMKNEEELE TRGALRLLSA LGLFCVCWET PQGLELPSDK 400
    DLVFEEACGY YQRRSLRGTQ LTPEELRHNS MFRAPQALAS ILQGHLPPST 450
    LLTTLRAELR DYRSIEQLKA QLVAGDDEEA GWTELAEHEV ARLLRTQLTG 500
    DQLAQFNTIF QALPTAAWGA TLQALQLQPD RSGRLRSQAP PDVWKKVLRA 550
    PTAGKEHPNG ILPPFELLCQ CLGQLEPQWL PPFVKLAQQQ GGPGWGAEGP 600
    SLPLYRRALA VLGEEGKRPE ALELELLLGS GRPKAVLQAV RQLIKKEEWE 650
    RALEAGLALD ASSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPEVA 700
    PHELLLLLRT HLPDDEGTTP FPEPGAEPPL TVGLVRALLE QTGAQGRPSG 750
    PVQSTYEDIL WDPGTPPPTP PRGPTASLPA SDHPGQEAWV PPGQGLGAAD 800
    VGVHL 805
    Length:805
    Mass (Da):87,341
    Last modified:July 27, 2011 - v3
    Checksum:i503BCD0B3760D95A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti137 – 1371R → S in BAC27030. (PubMed:16141072)Curated
    Sequence conflicti384 – 3841F → L in AAH34055. (PubMed:15489334)Curated
    Sequence conflicti667 – 6671R → G in BAC27030. (PubMed:16141072)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti187 – 1893Missing in allele ru; HPS-like mutant. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF536239 mRNA. Translation: AAO25966.1.
    AK030582 mRNA. Translation: BAC27030.1.
    AK040849 mRNA. Translation: BAC30719.1.
    AK159588 mRNA. Translation: BAE35208.1.
    BC034055 mRNA. Translation: AAH34055.1.
    CCDSiCCDS29869.1.
    RefSeqiNP_789742.2. NM_176785.3.
    UniGeneiMm.101110.

    Genome annotation databases

    EnsembliENSMUST00000099393; ENSMUSP00000096991; ENSMUSG00000074811.
    GeneIDi20170.
    KEGGimmu:20170.
    UCSCiuc008hrx.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF536239 mRNA. Translation: AAO25966.1 .
    AK030582 mRNA. Translation: BAC27030.1 .
    AK040849 mRNA. Translation: BAC30719.1 .
    AK159588 mRNA. Translation: BAE35208.1 .
    BC034055 mRNA. Translation: AAH34055.1 .
    CCDSi CCDS29869.1.
    RefSeqi NP_789742.2. NM_176785.3.
    UniGenei Mm.101110.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 203035. 1 interaction.
    IntActi Q8BLY7. 1 interaction.
    MINTi MINT-4097952.

    PTM databases

    PhosphoSitei Q8BLY7.

    Proteomic databases

    PaxDbi Q8BLY7.
    PRIDEi Q8BLY7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000099393 ; ENSMUSP00000096991 ; ENSMUSG00000074811 .
    GeneIDi 20170.
    KEGGi mmu:20170.
    UCSCi uc008hrx.2. mouse.

    Organism-specific databases

    CTDi 79803.
    MGIi MGI:2181763. Hps6.

    Phylogenomic databases

    eggNOGi NOG43627.
    GeneTreei ENSGT00390000001546.
    HOGENOMi HOG000237333.
    HOVERGENi HBG049024.
    InParanoidi Q3TWQ8.
    OMAi FELLCQC.
    OrthoDBi EOG7NW68V.
    TreeFami TF331635.

    Miscellaneous databases

    NextBioi 297695.
    PROi Q8BLY7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8BLY7.
    CleanExi MM_HPS6.
    Genevestigatori Q8BLY7.

    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], VARIANT RU 187-HIS--PRO-189 DEL.
      Strain: C57BL/6J.
      Tissue: Kidney.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Aorta, Pituitary and Vein.
    3. "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].
      Strain: FVB/N.
    4. "Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells."
      Salazar G., Zlatic S., Craige B., Peden A.A., Pohl J., Faundez V.
      J. Biol. Chem. 284:1790-1802(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH AP-3 COMPLEX.

    Entry informationi

    Entry nameiHPS6_MOUSE
    AccessioniPrimary (citable) accession number: Q8BLY7
    Secondary accession number(s): Q3TWQ8, Q8BML5, Q8CIA3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2004
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 79 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3