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Q91VB4

- HPS3_MOUSE

UniProt

Q91VB4 - HPS3_MOUSE

Protein

Hermansky-Pudlak syndrome 3 protein homolog

Gene

Hps3

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    Involved in early stages of melanosome biogenesis and maturation.

    GO - Biological processi

    1. organelle organization Source: MGI
    2. pigmentation Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hermansky-Pudlak syndrome 3 protein homolog
    Alternative name(s):
    Cocoa protein
    Gene namesi
    Name:Hps3
    Synonyms:Coa
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 3

    Organism-specific databases

    MGIiMGI:2153839. Hps3.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-2 complex Source: Ensembl
    2. cytoplasm Source: MGI

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction.

    Keywords - Diseasei

    Albinism

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10021002Hermansky-Pudlak syndrome 3 protein homologPRO_0000084051Add
    BLAST

    Proteomic databases

    PaxDbiQ91VB4.
    PRIDEiQ91VB4.

    PTM databases

    PhosphoSiteiQ91VB4.

    Expressioni

    Tissue specificityi

    Found in heart, brain, spleen, liver, lung, kidney and testis.

    Gene expression databases

    ArrayExpressiQ91VB4.
    BgeeiQ91VB4.
    CleanExiMM_HPS3.
    GenevestigatoriQ91VB4.

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG69808.
    GeneTreeiENSGT00390000015458.
    HOGENOMiHOG000013119.
    HOVERGENiHBG023715.
    InParanoidiQ6GTD8.
    OMAiVCALRIQ.
    OrthoDBiEOG7NKKJF.
    TreeFamiTF324432.

    Family and domain databases

    InterProiIPR017216. HPS3.
    IPR029438. HPS3_C.
    IPR028167. HPS3_central_dom.
    IPR029437. HPS3_N.
    [Graphical view]
    PfamiPF14763. HPS3_C. 1 hit.
    PF14762. HPS3_Mid. 1 hit.
    PF14761. HPS3_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037473. BLOC-2_complex_Hps3. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q91VB4-1 [UniParc]FASTAAdd to Basket

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    MVRLYNLHPF GSQQVVPCQW EPEQVCCGGS DALFVAAGCK VEAFAVQGEE     50
    LCRQRCAFST LGRVLRMAYS EAGDYLVAIE EKNKTIFLRA YVNWRSKRSD 100
    NSRVCIRMVG HNVEASFCES FRDQMSIIEM PMSEAPLCFS CCPVKGDLLV 150
    GCTNKLVLFT LKYDIINEEF SILNFERSLI IHIDNITPVE ISFCVGYVAV 200
    MSDLEVLLLK LESDPIHGES VDHHPQETSN PLKEAEGVSN ETSQLESEDF 250
    VICLKPMELI GEKCEQSGIS VKLESTGLED EKVKYLRVRH LLYRRFAPDI 300
    SSYVLSDNIK LHSLQLLPIH QSGFHPDEND LSPKKEMPNL FCFFSLPHVG 350
    YLYMVVKSVE LMSVYWYPEK SQQAVLTPQF LHVITSQSLQ CFTVRCSAAV 400
    AHEEDLYMDT TLKACPPVSM DVCALRIQLF IGLKAICHFK NHIILLTKAE 450
    PEAIPERRES PKKLISRKDA SVRSGTPHVA EAAWNLYLVN TTAPVQLYKE 500
    MVDYSNSYKT VKTESCLHLL SEAHLLVRAA LMDGSQLEPA EKAELLEAFK 550
    ESCGHLGDCY SRLTTEQSHL ALPYYKMSGL SLAEVLARVD WTEESESQKY 600
    ERGLVFYINH SLYENLDEEL SKELAAKVAQ IFHMAEPKQL PHVLSSPSMK 650
    NIDPLTALHY LRKLDSCGVS PVLVTLTKAA VALKMGDLDM YRNEMKSHSE 700
    MKLVYGFILE PRLLIQQWKG QIVPTELAID LKETQPGLLV ASVLGLQKND 750
    KIGIVETDSF FKVLCGKDED AVPQLLIDFW EAQLVACLPN VVLEELFFKL 800
    ISQYVWRLSE RRCPDTVPLR TAEDLINACS HYGLVNPWVH VLTTSDSLAD 850
    KNYTDDLLKL QSLICSPSLD VASIIPFLEP LSEDTVAGLS THALCHTRLQ 900
    EYEQCIDTLL ERCPEAVIAY ANQELKEDHW ILWWKKLLPE LCQRVKSGGE 950
    RSHLHLSLLK ETLSVIAVGL DLRDFLNVLP EDGAAAFFLP YLLFCSRKKS 1000
    LT 1002
    Length:1,002
    Mass (Da):113,182
    Last modified:July 27, 2011 - v2
    Checksum:i2C3017EC3D2C0EB8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti634 – 6341M → V in AAH20105. (PubMed:15489334)Curated
    Sequence conflicti891 – 8911T → A in AAK84214. (PubMed:11592818)Curated
    Sequence conflicti891 – 8911T → A in AAK84181. (PubMed:11592818)Curated
    Sequence conflicti891 – 8911T → A in AAH20105. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF396703
    , AF396700, AF396701, AF396702 Genomic DNA. Translation: AAK84214.1.
    AF393747 mRNA. Translation: AAK84181.1.
    AF396648
    , AF396632, AF396633, AF396634, AF396635, AF396636, AF396637, AF396638, AF396639, AF396640, AF396641, AF396642, AF396643, AF396644, AF396645, AF396646, AF396647 Genomic DNA. Translation: AAL37710.1.
    AF393780 mRNA. Translation: AAL84109.1.
    CH466530 Genomic DNA. Translation: EDL34889.1.
    BC058235 mRNA. Translation: AAH58235.1.
    BC020105 mRNA. Translation: AAH20105.1.
    CCDSiCCDS17260.1.
    RefSeqiNP_001139795.1. NM_001146323.1.
    NP_542365.3. NM_080634.4.
    UniGeneiMm.291533.

    Genome annotation databases

    EnsembliENSMUST00000012580; ENSMUSP00000012580; ENSMUSG00000027615.
    GeneIDi12807.
    KEGGimmu:12807.
    UCSCiuc008osf.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF396703
    , AF396700 , AF396701 , AF396702 Genomic DNA. Translation: AAK84214.1 .
    AF393747 mRNA. Translation: AAK84181.1 .
    AF396648
    , AF396632 , AF396633 , AF396634 , AF396635 , AF396636 , AF396637 , AF396638 , AF396639 , AF396640 , AF396641 , AF396642 , AF396643 , AF396644 , AF396645 , AF396646 , AF396647 Genomic DNA. Translation: AAL37710.1 .
    AF393780 mRNA. Translation: AAL84109.1 .
    CH466530 Genomic DNA. Translation: EDL34889.1 .
    BC058235 mRNA. Translation: AAH58235.1 .
    BC020105 mRNA. Translation: AAH20105.1 .
    CCDSi CCDS17260.1.
    RefSeqi NP_001139795.1. NM_001146323.1.
    NP_542365.3. NM_080634.4.
    UniGenei Mm.291533.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q91VB4.

    Proteomic databases

    PaxDbi Q91VB4.
    PRIDEi Q91VB4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000012580 ; ENSMUSP00000012580 ; ENSMUSG00000027615 .
    GeneIDi 12807.
    KEGGi mmu:12807.
    UCSCi uc008osf.2. mouse.

    Organism-specific databases

    CTDi 84343.
    MGIi MGI:2153839. Hps3.

    Phylogenomic databases

    eggNOGi NOG69808.
    GeneTreei ENSGT00390000015458.
    HOGENOMi HOG000013119.
    HOVERGENi HBG023715.
    InParanoidi Q6GTD8.
    OMAi VCALRIQ.
    OrthoDBi EOG7NKKJF.
    TreeFami TF324432.

    Miscellaneous databases

    NextBioi 282248.
    PROi Q91VB4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q91VB4.
    Bgeei Q91VB4.
    CleanExi MM_HPS3.
    Genevestigatori Q91VB4.

    Family and domain databases

    InterProi IPR017216. HPS3.
    IPR029438. HPS3_C.
    IPR028167. HPS3_central_dom.
    IPR029437. HPS3_N.
    [Graphical view ]
    Pfami PF14763. HPS3_C. 1 hit.
    PF14762. HPS3_Mid. 1 hit.
    PF14761. HPS3_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037473. BLOC-2_complex_Hps3. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the subtle gray (sut) locus."
      Huizing M., Anikster Y., White J.G., Gahl W.A.
      Mol. Genet. Metab. 74:217-225(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Strain: BALB/c and C3H/HeSNJ.
    2. "The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene."
      Suzuki T., Li W., Zhang Q., Novak E.K., Sviderskaya E.V., Wilson A., Bennett D.C., Roe B.A., Swank R.T., Spritz R.A.
      Genomics 78:30-37(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Strain: 129/SvJ.
    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].

    Entry informationi

    Entry nameiHPS3_MOUSE
    AccessioniPrimary (citable) accession number: Q91VB4
    Secondary accession number(s): Q6GTD8, Q8VDX2, Q8VHT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2002
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 79 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