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P59438 (HPS5_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 5 protein homolog
Alternative name(s):
Ruby-eye protein 2
Short name=Ru2
Gene names
Name:Hps5
Synonyms:Ru2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1126 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. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

Subunit structure

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Directly interacts with HPS6. May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6 By similarity.

Subcellular location

Cytoplasmcytosol By similarity.

Tissue specificity

Widely expressed, with lowest expression in skeletal muscle and spleen.

Involvement in disease

Defects in Hps5 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 similarities

Belongs to the HPS5 family.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood coagulation

Inferred from mutant phenotype PubMed 6696991. Source: MGI

organelle organization

Inferred from mutant phenotype Ref.1. Source: MGI

pigmentation

Inferred from mutant phenotype PubMed 2379821. Source: MGI

   Cellular_componentBLOC-2 complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein binding

Inferred from physical interaction Ref.1. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P59438-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P59438-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-165: Missing.
Isoform 3 (identifier: P59438-3)

The sequence of this isoform differs from the canonical sequence as follows:
     504-526: ESASHSPVMSEVDKSEAFLPFSI → GMKDGSRFGSHCLPFSMLQHSCD
     527-1126: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11261126Hermansky-Pudlak syndrome 5 protein homolog
PRO_0000084055

Regions

Compositional bias158 – 1636Poly-Ala

Amino acid modifications

Modified residue5321Phosphoserine By similarity

Natural variations

Alternative sequence1 – 165165Missing in isoform 2.
VSP_007036
Alternative sequence504 – 52623ESASH…LPFSI → GMKDGSRFGSHCLPFSMLQH SCD in isoform 3.
VSP_007037
Alternative sequence527 – 1126600Missing in isoform 3.
VSP_007038

Experimental info

Sequence conflict4421E → V in AAO25958. Ref.1
Sequence conflict4421E → V in AAO25959. Ref.1
Sequence conflict4421E → V in AAO25960. Ref.1
Sequence conflict4421E → V in AAO25961. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2012. Version 2.
Checksum: 31B715FE32DAE699

FASTA1,126126,337
        10         20         30         40         50         60 
MTFVPVIPEA YSHVLAEFES LDPLLTALRL DSSRLRCTSI AVSRKWLALG STGGGLNLIQ 

        70         80         90        100        110        120 
KDGWKQRLFL SHREGAISQI ACCSHDDDYV AVATSQGLVV VWELNQERRG KPERIHVSSE 

       130        140        150        160        170        180 
HKGRKVTALC WDTAVLRVFV GDHVGKVSAI KLNTLKQAKA AAAFVMFPVQ TVLTVDSCVV 

       190        200        210        220        230        240 
QLDYLDGRLL VSSLTRSFLC DTEREKFWKI GNKERHGEYG ACFFPGRCAG GQQPVIYCAR 

       250        260        270        280        290        300 
PGSRMWEVNF DGEVLSTHQF KKLLSMPPLP VITARSEPQY DHTVGSSQSL AFPKLLHLSE 

       310        320        330        340        350        360 
HCVLTWTEKG IYIFIPQNVQ VLLWSEVKDI QDVAVYKNEL FCLHFNGKIS HLSLLSVERC 

       370        380        390        400        410        420 
VERLLRRGLW DLAARTCCLF QNSIITSRAR KTLTADKLEH LKSQLDLTAC SELISQLDDL 

       430        440        450        460        470        480 
ILRFEPLESA CSSRRSSISS HESFSILDSG IYRIISSRRG SQSDEDSCSL HSQTFSEDER 

       490        500        510        520        530        540 
LKEFASHQEE EQPEQGCGAN RNEESASHSP VMSEVDKSEA FLPFSIALPF RSPSPLVSLQ 

       550        560        570        580        590        600 
AVKDSVSSFV RKTTEKIGTL HGSPELKEPF ESKDADRAHE EEVSAVTCPL EEDTEEKEIH 

       610        620        630        640        650        660 
QPPKEDRLQE LTAATAEAMT KLLDPLVLFE PKVLRMVLLE WLSQLEKTFA MKDFPGISNT 

       670        680        690        700        710        720 
SSPTVKSNLG AHLLGETEKR VLDEESGEGR RVSLVTEEAG GQITCDPVSN LSEPSADRFR 

       730        740        750        760        770        780 
VCSPYAITNS LQRDLAELTT LCLELNVLTS AMESVGGHVD RASQQLSPEI LACRFLKKYF 

       790        800        810        820        830        840 
FLLDLKRAKE SIKLTYDSPC VWDTFVEGLK EMARSNPAYT ELEEGDLPTG LQLLDGSVPS 

       850        860        870        880        890        900 
DSPLLIAFAT RLYDRFGESA LRACIKFYPS ISPSDIAQLC RHHPAQFLAY LDSLVKSRPE 

       910        920        930        940        950        960 
DQWPSFLEFL LQPESLRLEW LLLAVSHDAP PSTSTVDDEG HPRPHSHLLS WGYSQLILLL 

       970        980        990       1000       1010       1020 
IKLPADFTTK EKMTDICRSY GFWPGYLTLC LELERRREAF TNIVYLNDIS LMEGDNGWIP 

      1030       1040       1050       1060       1070       1080 
ETLEEWKLLL HLLQTKSTRP APQESLNGSL SDGPAPINVE NVALLLAKAM GPDRAWSLLQ 

      1090       1100       1110       1120 
ECGLALELSE KFTRTCDILR IAERRQRALI QGMLEKCDRF LWSQQA 

« Hide

Isoform 2 [UniParc].

Checksum: 132E95CF63A31382
Show »

FASTA961108,219
Isoform 3 [UniParc].

Checksum: 0067BE54523E6103
Show »

FASTA52659,058

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] (ISOFORMS 1; 2 AND 3).
Strain: C57BL/6J.
Tissue: Kidney.
[2]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[3]Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
Submitted (JUL-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] OF 174-1126.
Strain: FVB/N.
Tissue: Mammary gland.
[5]"The phagosomal proteome in interferon-gamma-activated macrophages."
Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF534396 mRNA. Translation: AAO25958.1.
AF534397 mRNA. Translation: AAO25959.1.
AF534398 mRNA. Translation: AAO25960.1.
AF534399 mRNA. Translation: AAO25961.1.
AC090122 Genomic DNA. No translation available.
CH466603 Genomic DNA. Translation: EDL22941.1.
CH466603 Genomic DNA. Translation: EDL22942.1.
CH466603 Genomic DNA. Translation: EDL22943.1.
BC046405 mRNA. Translation: AAH46405.1.
CCDSCCDS21286.1. [P59438-1]
RefSeqNP_001005247.2. NM_001005247.2. [P59438-1]
NP_001005248.2. NM_001005248.2. [P59438-1]
NP_001161336.1. NM_001167864.1.
XP_006540967.1. XM_006540904.1. [P59438-1]
XP_006540968.1. XM_006540905.1. [P59438-1]
UniGeneMm.379442.

3D structure databases

ProteinModelPortalP59438.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid232927. 1 interaction.
STRING10090.ENSMUSP00000103281.

PTM databases

PhosphoSiteP59438.

Proteomic databases

MaxQBP59438.
PaxDbP59438.
PRIDEP59438.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000014562; ENSMUSP00000014562; ENSMUSG00000014418. [P59438-1]
ENSMUST00000107654; ENSMUSP00000103281; ENSMUSG00000014418. [P59438-1]
ENSMUST00000142663; ENSMUSP00000122887; ENSMUSG00000014418. [P59438-3]
GeneID246694.
KEGGmmu:246694.
UCSCuc009gzh.2. mouse.

Organism-specific databases

CTD11234.
MGIMGI:2180307. Hps5.

Phylogenomic databases

eggNOGNOG253874.
GeneTreeENSGT00530000063527.
HOGENOMHOG000112944.
HOVERGENHBG039495.
InParanoidP59438.
OMAEYGACFF.
OrthoDBEOG7VHSWN.
TreeFamTF323607.

Gene expression databases

ArrayExpressP59438.
CleanExMM_HPS5.
GenevestigatorP59438.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR017217. BLOC-2_complex_Hps5_subunit.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFPIRSF037475. BLOC-2_complex_Hps5. 1 hit.
SUPFAMSSF50978. SSF50978. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHPS5. mouse.
NextBio387233.
PROP59438.
SOURCESearch...

Entry information

Entry nameHPS5_MOUSE
AccessionPrimary (citable) accession number: P59438
Secondary accession number(s): G3X8S7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: October 3, 2012
Last modified: July 9, 2014
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

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