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Q8BLY7 (HPS6_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (1) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 6 protein homolog
Alternative name(s):
Ruby-eye protein
Short name=Ru
Gene names
Name:Hps6
Synonyms:Ru
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length805 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.

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) By similarity. Interacts with AP-3 complex. Ref.4

Subcellular location

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

Tissue specificity

Widely expressed, with lowest expression in skeletal muscle.

Involvement in disease

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 805805Hermansky-Pudlak syndrome 6 protein homolog
PRO_0000084057

Natural variations

Natural variant187 – 1893Missing in allele ru; HPS-like mutant.

Experimental info

Sequence conflict1371R → S in BAC27030. Ref.2
Sequence conflict3841F → L in AAH34055. Ref.3
Sequence conflict6671R → G in BAC27030. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8BLY7 [UniParc].

Last modified July 27, 2011. Version 3.
Checksum: 503BCD0B3760D95A

FASTA80587,341
        10         20         30         40         50         60 
MKRAGTLRLL SDLSNFTGAA RLRELLAGDP AVLVRCSPDG RHLLLLRPPG SPAPQLLVAV 

        70         80         90        100        110        120 
RGPGLPLERA WPEGDPSPLD VFFVPWLARP ALILVWESGL AEVWGVGMEP GWKLLQSTEL 

       130        140        150        160        170        180 
CPDGGARVMA VAATRGRLVW CEERQPGVKD QPEQLSTAFS HRVCFKTLET SGEAGTKLGC 

       190        200        210        220        230        240 
THILLHHCPL FGLIASRKDL FLVPTTNTWS GVAHLLLIWS PSKGKVIVAA PSLGLSHSKS 

       250        260        270        280        290        300 
LNPKQGDTWD FRTLLRGLPG FLSPREPLAV HTWAPSSQGL LLLDLKGKVS LVQCHGGTRT 

       310        320        330        340        350        360 
VGILQEAPVS LKGSAALGTF HGTLACVLGS TLELLDMSSG RLLEKKVLST DRVHLLEPPA 

       370        380        390        400        410        420 
PGMKNEEELE TRGALRLLSA LGLFCVCWET PQGLELPSDK DLVFEEACGY YQRRSLRGTQ 

       430        440        450        460        470        480 
LTPEELRHNS MFRAPQALAS ILQGHLPPST LLTTLRAELR DYRSIEQLKA QLVAGDDEEA 

       490        500        510        520        530        540 
GWTELAEHEV ARLLRTQLTG DQLAQFNTIF QALPTAAWGA TLQALQLQPD RSGRLRSQAP 

       550        560        570        580        590        600 
PDVWKKVLRA PTAGKEHPNG ILPPFELLCQ CLGQLEPQWL PPFVKLAQQQ GGPGWGAEGP 

       610        620        630        640        650        660 
SLPLYRRALA VLGEEGKRPE ALELELLLGS GRPKAVLQAV RQLIKKEEWE RALEAGLALD 

       670        680        690        700        710        720 
ASSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPEVA PHELLLLLRT HLPDDEGTTP 

       730        740        750        760        770        780 
FPEPGAEPPL TVGLVRALLE QTGAQGRPSG PVQSTYEDIL WDPGTPPPTP PRGPTASLPA 

       790        800 
SDHPGQEAWV PPGQGLGAAD VGVHL 

« 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], 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_789742.2. NM_176785.3.
UniGeneMm.101110.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid203035. 1 interaction.
IntActQ8BLY7. 1 interaction.
MINTMINT-4097952.

PTM databases

PhosphoSiteQ8BLY7.

Proteomic databases

PaxDbQ8BLY7.
PRIDEQ8BLY7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000099393; ENSMUSP00000096991; ENSMUSG00000074811.
GeneID20170.
KEGGmmu:20170.
UCSCuc008hrx.2. mouse.

Organism-specific databases

CTD79803.
MGIMGI:2181763. Hps6.

Phylogenomic databases

eggNOGNOG43627.
GeneTreeENSGT00390000001546.
HOGENOMHOG000237333.
HOVERGENHBG049024.
InParanoidQ3TWQ8.
OMAFELLCQC.
OrthoDBEOG7NW68V.
TreeFamTF331635.

Gene expression databases

BgeeQ8BLY7.
CleanExMM_HPS6.
GenevestigatorQ8BLY7.

Family and domain databases

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

Other

NextBio297695.
PROQ8BLY7.
SOURCESearch...

Entry information

Entry nameHPS6_MOUSE
AccessionPrimary (citable) accession number: Q8BLY7
Secondary accession number(s): Q3TWQ8, Q8BML5, Q8CIA3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: July 27, 2011
Last modified: April 16, 2014
This is version 75 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

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