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)

Q99KG7

- HPS4_MOUSE

UniProt

Q99KG7 - HPS4_MOUSE

Protein

Hermansky-Pudlak syndrome 4 protein homolog

Gene

Hps4

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 85 (01 Oct 2014)
      Sequence version 2 (06 Jun 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    May function in the pathway of organelle biogenesis. May function with HPS1.

    GO - Molecular functioni

    1. protein dimerization activity Source: UniProtKB
    2. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. blood coagulation Source: MGI
    2. lysosome organization Source: UniProtKB
    3. melanocyte differentiation Source: MGI
    4. organelle organization Source: MGI
    5. protein stabilization Source: UniProtKB
    6. protein targeting Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 4 protein homolog
    Alternative name(s):
    Light-ear protein
    Short name:
    Le protein
    Gene namesi
    Name:Hps4
    Synonyms:Le
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 5

    Organism-specific databases

    MGIiMGI:2177742. Hps4.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-3 complex Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. cytoplasmic membrane-bounded vesicle Source: MGI
    4. lysosome Source: UniProtKB
    5. melanosome Source: UniProtKB
    6. membrane Source: UniProtKB
    7. platelet dense granule Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Hps4 are the cause of the light ear (le) mutant which exhibits hypopigmentation associated with defects of multiple cytoplasmic organelles, including melanosomes, lysosomes, and granular elements of platelets.

    Keywords - Diseasei

    Albinism, Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 671671Hermansky-Pudlak syndrome 4 protein homologPRO_0000084053Add
    BLAST

    Proteomic databases

    PaxDbiQ99KG7.
    PRIDEiQ99KG7.

    PTM databases

    PhosphoSiteiQ99KG7.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, brain, liver and testis. Expressed at lower level in skeletal muscle.

    Gene expression databases

    BgeeiQ99KG7.
    CleanExiMM_HPS4.
    GenevestigatoriQ99KG7.

    Interactioni

    Protein-protein interaction databases

    BioGridi228683. 1 interaction.
    MINTiMINT-4997961.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99KG7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG85637.
    GeneTreeiENSGT00390000007349.
    HOGENOMiHOG000272622.
    HOVERGENiHBG031612.
    InParanoidiQ99KG7.
    OMAiAVYACCN.
    OrthoDBiEOG7XWPQZ.
    PhylomeDBiQ99KG7.
    TreeFamiTF332819.

    Family and domain databases

    InterProiIPR026091. HPS4.
    [Graphical view]
    PANTHERiPTHR14407. PTHR14407. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q99KG7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MATTTPPETK SAAWWNYFFL YDGSKVKGEG DPTRAGICYF YPPQTLLDQQ    50
    ELLCGQLAGV VRCLWDLSGT PPMLIRMRNL KFAIRADGDY LWALGCGVEI 100
    SDASCRQFLD QLIGFFHFYM GPVSLAYKSH PQEELSLQWD TSITQVLRST 150
    SESHRIFNAL WNLDRTKVEP LLLLKAALIL QTCQRSPHVL AGCILYKGLI 200
    VNSQLLPSLT AKVLLHQTVP ADQRLPGAGA APQETGAALP PDVQITSVFL 250
    SEEEVASLHE FPVEHETRLQ GSSVQYPPWD QSSPTQAEDA WASAAIPEPT 300
    PHDGACPSGS GADERLPRLE QECAGPTGLC TTACGQGSGL SSRLQKELCL 350
    SREELDSSEM HVSEAQEAFP PLPALGDLET LHSSHSAPTL PEDTAICSCL 400
    HPCPLERLPE SGRLGQLADL PLTNGQTQVP GTDPLPSSMP VALPPQHPVG 450
    VEPSVEPYGN GAQESHSALP RSSRSPDSPG PSPSADRTGF KPSPSGRHAG 500
    LVPMNLYTHS VNGLVLSLLA EETLLSDTAA IEEVYHSSLA SLNGLEVHLK 550
    ETLPRDEASL TSSTYNFLHY DRIQSVLSAN LPLVTAPQDR RFLQAVNLMH 600
    SDFALLPMLY EMTIRNASTA VYACSSPAQE TYFQQLAPTA RSSGFPNPQD 650
    CAFSLAGKAK QKLLKHGVNL L 671
    Length:671
    Mass (Da):72,662
    Last modified:June 6, 2002 - v2
    Checksum:i3167737195F7F3BD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti287 – 2904AEDA → PRVR(PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 671621Missing in Le.
    Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY043414
    , AY043402, AY043403, AY043404, AY043405, AY043406, AY043407, AY043408, AY043409, AY043410, AY043411, AY043412, AY043413 Genomic DNA. Translation: AAK95331.1.
    AY043415 mRNA. Translation: AAK95332.1.
    BC004668 mRNA. Translation: AAH04668.1.
    CCDSiCCDS19540.1.
    RefSeqiNP_619587.3. NM_138646.3.
    XP_006534893.1. XM_006534830.1.
    XP_006534894.1. XM_006534831.1.
    XP_006534895.1. XM_006534832.1.
    UniGeneiMm.238043.

    Genome annotation databases

    EnsembliENSMUST00000035279; ENSMUSP00000047920; ENSMUSG00000042328.
    ENSMUST00000112359; ENSMUSP00000107978; ENSMUSG00000042328.
    GeneIDi192232.
    KEGGimmu:192232.
    UCSCiuc008ytd.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY043414
    , AY043402 , AY043403 , AY043404 , AY043405 , AY043406 , AY043407 , AY043408 , AY043409 , AY043410 , AY043411 , AY043412 , AY043413 Genomic DNA. Translation: AAK95331.1 .
    AY043415 mRNA. Translation: AAK95332.1 .
    BC004668 mRNA. Translation: AAH04668.1 .
    CCDSi CCDS19540.1.
    RefSeqi NP_619587.3. NM_138646.3.
    XP_006534893.1. XM_006534830.1.
    XP_006534894.1. XM_006534831.1.
    XP_006534895.1. XM_006534832.1.
    UniGenei Mm.238043.

    3D structure databases

    ProteinModelPortali Q99KG7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 228683. 1 interaction.
    MINTi MINT-4997961.

    PTM databases

    PhosphoSitei Q99KG7.

    Proteomic databases

    PaxDbi Q99KG7.
    PRIDEi Q99KG7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000035279 ; ENSMUSP00000047920 ; ENSMUSG00000042328 .
    ENSMUST00000112359 ; ENSMUSP00000107978 ; ENSMUSG00000042328 .
    GeneIDi 192232.
    KEGGi mmu:192232.
    UCSCi uc008ytd.2. mouse.

    Organism-specific databases

    CTDi 89781.
    MGIi MGI:2177742. Hps4.

    Phylogenomic databases

    eggNOGi NOG85637.
    GeneTreei ENSGT00390000007349.
    HOGENOMi HOG000272622.
    HOVERGENi HBG031612.
    InParanoidi Q99KG7.
    OMAi AVYACCN.
    OrthoDBi EOG7XWPQZ.
    PhylomeDBi Q99KG7.
    TreeFami TF332819.

    Miscellaneous databases

    NextBioi 371274.
    PROi Q99KG7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99KG7.
    CleanExi MM_HPS4.
    Genevestigatori Q99KG7.

    Family and domain databases

    InterProi IPR026091. HPS4.
    [Graphical view ]
    PANTHERi PTHR14407. PTHR14407. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene."
      Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K., Fong C.-T., Castellan C., Miterski B., Swank R.T., Spritz R.A.
      Nat. Genet. 30:321-324(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LE.
      Strain: 129/SvJ.
    2. "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 287-671.
      Tissue: Mammary gland.

    Entry informationi

    Entry nameiHPS4_MOUSE
    AccessioniPrimary (citable) accession number: Q99KG7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 6, 2002
    Last sequence update: June 6, 2002
    Last modified: October 1, 2014
    This is version 85 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

    External Data

    Dasty 3