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P59438

- HPS5_MOUSE

UniProt

P59438 - HPS5_MOUSE

Protein

Hermansky-Pudlak syndrome 5 protein homolog

Gene

Hps5

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (03 Oct 2012)
      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. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

    GO - Molecular functioni

    1. protein binding Source: MGI

    GO - Biological processi

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 5 protein homolog
    Alternative name(s):
    Ruby-eye protein 2
    Short name:
    Ru2
    Gene namesi
    Name:Hps5
    Synonyms:Ru2
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:2180307. Hps5.

    Subcellular locationi

    Cytoplasmcytosol By similarity

    GO - Cellular componenti

    1. BLOC-2 complex Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11261126Hermansky-Pudlak syndrome 5 protein homologPRO_0000084055Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei532 – 5321PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP59438.
    PaxDbiP59438.
    PRIDEiP59438.

    PTM databases

    PhosphoSiteiP59438.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiP59438.
    CleanExiMM_HPS5.
    GenevestigatoriP59438.

    Interactioni

    Subunit structurei

    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.By similarity

    Protein-protein interaction databases

    BioGridi232927. 1 interaction.
    STRINGi10090.ENSMUSP00000103281.

    Structurei

    3D structure databases

    ProteinModelPortaliP59438.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi158 – 1636Poly-Ala

    Sequence similaritiesi

    Belongs to the HPS5 family.Curated

    Phylogenomic databases

    eggNOGiNOG253874.
    GeneTreeiENSGT00530000063527.
    HOGENOMiHOG000112944.
    HOVERGENiHBG039495.
    InParanoidiP59438.
    OMAiEYGACFF.
    OrthoDBiEOG7VHSWN.
    TreeFamiTF323607.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR017217. BLOC-2_complex_Hps5_subunit.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PANTHERiPTHR23287:SF15. PTHR23287:SF15. 1 hit.
    PIRSFiPIRSF037475. BLOC-2_complex_Hps5. 1 hit.
    SUPFAMiSSF50978. SSF50978. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P59438-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MTFVPVIPEA YSHVLAEFES LDPLLTALRL DSSRLRCTSI AVSRKWLALG     50
    STGGGLNLIQ KDGWKQRLFL SHREGAISQI ACCSHDDDYV AVATSQGLVV 100
    VWELNQERRG KPERIHVSSE HKGRKVTALC WDTAVLRVFV GDHVGKVSAI 150
    KLNTLKQAKA AAAFVMFPVQ TVLTVDSCVV QLDYLDGRLL VSSLTRSFLC 200
    DTEREKFWKI GNKERHGEYG ACFFPGRCAG GQQPVIYCAR PGSRMWEVNF 250
    DGEVLSTHQF KKLLSMPPLP VITARSEPQY DHTVGSSQSL AFPKLLHLSE 300
    HCVLTWTEKG IYIFIPQNVQ VLLWSEVKDI QDVAVYKNEL FCLHFNGKIS 350
    HLSLLSVERC VERLLRRGLW DLAARTCCLF QNSIITSRAR KTLTADKLEH 400
    LKSQLDLTAC SELISQLDDL ILRFEPLESA CSSRRSSISS HESFSILDSG 450
    IYRIISSRRG SQSDEDSCSL HSQTFSEDER LKEFASHQEE EQPEQGCGAN 500
    RNEESASHSP VMSEVDKSEA FLPFSIALPF RSPSPLVSLQ AVKDSVSSFV 550
    RKTTEKIGTL HGSPELKEPF ESKDADRAHE EEVSAVTCPL EEDTEEKEIH 600
    QPPKEDRLQE LTAATAEAMT KLLDPLVLFE PKVLRMVLLE WLSQLEKTFA 650
    MKDFPGISNT SSPTVKSNLG AHLLGETEKR VLDEESGEGR RVSLVTEEAG 700
    GQITCDPVSN LSEPSADRFR VCSPYAITNS LQRDLAELTT LCLELNVLTS 750
    AMESVGGHVD RASQQLSPEI LACRFLKKYF FLLDLKRAKE SIKLTYDSPC 800
    VWDTFVEGLK EMARSNPAYT ELEEGDLPTG LQLLDGSVPS DSPLLIAFAT 850
    RLYDRFGESA LRACIKFYPS ISPSDIAQLC RHHPAQFLAY LDSLVKSRPE 900
    DQWPSFLEFL LQPESLRLEW LLLAVSHDAP PSTSTVDDEG HPRPHSHLLS 950
    WGYSQLILLL IKLPADFTTK EKMTDICRSY GFWPGYLTLC LELERRREAF 1000
    TNIVYLNDIS LMEGDNGWIP ETLEEWKLLL HLLQTKSTRP APQESLNGSL 1050
    SDGPAPINVE NVALLLAKAM GPDRAWSLLQ ECGLALELSE KFTRTCDILR 1100
    IAERRQRALI QGMLEKCDRF LWSQQA 1126
    Length:1,126
    Mass (Da):126,337
    Last modified:October 3, 2012 - v2
    Checksum:i31B715FE32DAE699
    GO
    Isoform 2 (identifier: P59438-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-165: Missing.

    Show »
    Length:961
    Mass (Da):108,219
    Checksum:i132E95CF63A31382
    GO
    Isoform 3 (identifier: P59438-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:526
    Mass (Da):59,058
    Checksum:i0067BE54523E6103
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti442 – 4421E → V in AAO25958. (PubMed:12548288)Curated
    Sequence conflicti442 – 4421E → V in AAO25959. (PubMed:12548288)Curated
    Sequence conflicti442 – 4421E → V in AAO25960. (PubMed:12548288)Curated
    Sequence conflicti442 – 4421E → V in AAO25961. (PubMed:12548288)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 165165Missing in isoform 2. 1 PublicationVSP_007036Add
    BLAST
    Alternative sequencei504 – 52623ESASH…LPFSI → GMKDGSRFGSHCLPFSMLQH SCD in isoform 3. 1 PublicationVSP_007037Add
    BLAST
    Alternative sequencei527 – 1126600Missing in isoform 3. 1 PublicationVSP_007038Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS21286.1. [P59438-1]
    RefSeqiNP_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]
    UniGeneiMm.379442.

    Genome annotation databases

    EnsembliENSMUST00000014562; ENSMUSP00000014562; ENSMUSG00000014418. [P59438-1]
    ENSMUST00000107654; ENSMUSP00000103281; ENSMUSG00000014418. [P59438-1]
    ENSMUST00000142663; ENSMUSP00000122887; ENSMUSG00000014418. [P59438-3]
    GeneIDi246694.
    KEGGimmu:246694.
    UCSCiuc009gzh.2. mouse.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS21286.1. [P59438-1 ]
    RefSeqi NP_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 ]
    UniGenei Mm.379442.

    3D structure databases

    ProteinModelPortali P59438.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 232927. 1 interaction.
    STRINGi 10090.ENSMUSP00000103281.

    PTM databases

    PhosphoSitei P59438.

    Proteomic databases

    MaxQBi P59438.
    PaxDbi P59438.
    PRIDEi P59438.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000014562 ; ENSMUSP00000014562 ; ENSMUSG00000014418 . [P59438-1 ]
    ENSMUST00000107654 ; ENSMUSP00000103281 ; ENSMUSG00000014418 . [P59438-1 ]
    ENSMUST00000142663 ; ENSMUSP00000122887 ; ENSMUSG00000014418 . [P59438-3 ]
    GeneIDi 246694.
    KEGGi mmu:246694.
    UCSCi uc009gzh.2. mouse.

    Organism-specific databases

    CTDi 11234.
    MGIi MGI:2180307. Hps5.

    Phylogenomic databases

    eggNOGi NOG253874.
    GeneTreei ENSGT00530000063527.
    HOGENOMi HOG000112944.
    HOVERGENi HBG039495.
    InParanoidi P59438.
    OMAi EYGACFF.
    OrthoDBi EOG7VHSWN.
    TreeFami TF323607.

    Miscellaneous databases

    ChiTaRSi HPS5. mouse.
    NextBioi 387233.
    PROi P59438.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P59438.
    CleanExi MM_HPS5.
    Genevestigatori P59438.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR017217. BLOC-2_complex_Hps5_subunit.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PANTHERi PTHR23287:SF15. PTHR23287:SF15. 1 hit.
    PIRSFi PIRSF037475. BLOC-2_complex_Hps5. 1 hit.
    SUPFAMi SSF50978. SSF50978. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
      Strain: C57BL/6J.
      Tissue: Kidney.
    2. 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].

    Entry informationi

    Entry nameiHPS5_MOUSE
    AccessioniPrimary (citable) accession number: P59438
    Secondary accession number(s): G3X8S7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 28, 2003
    Last sequence update: October 3, 2012
    Last modified: October 1, 2014
    This is version 89 of the entry and version 2 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
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3