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Q8BLY7

- HPS6_MOUSE

UniProt

Q8BLY7 - HPS6_MOUSE

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Protein

Hermansky-Pudlak syndrome 6 protein homolog

Gene
Hps6, Ru
Organism
Mus musculus (Mouse)
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.

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
Complete GO annotation...

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
Complete GO annotation...

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.1 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

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti137 – 1371R → S in BAC27030. 1 Publication
Sequence conflicti384 – 3841F → L in AAH34055. 1 Publication
Sequence conflicti667 – 6671R → G in BAC27030. 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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 78 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

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