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B2RUP2

- UN13D_MOUSE

UniProt

B2RUP2 - UN13D_MOUSE

Protein

Protein unc-13 homolog D

Gene

Unc13d

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 55 (01 Oct 2014)
      Sequence version 2 (01 Sep 2009)
      Previous versions | rss
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    Functioni

    Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis By similarity. Regulates Ca2+-dependent secretory lysosome exocytosis in mast cells.By similarity1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. defense response to virus Source: MGI
    2. germinal center formation Source: MGI
    3. granuloma formation Source: MGI
    4. natural killer cell degranulation Source: MGI
    5. phagocytosis Source: MGI
    6. positive regulation of exocytosis Source: Ensembl
    7. regulation of mast cell degranulation Source: Ensembl

    Keywords - Biological processi

    Exocytosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein unc-13 homolog D
    Alternative name(s):
    Munc13-4
    Gene namesi
    Name:Unc13d
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:1917700. Unc13d.

    Subcellular locationi

    Cytoplasm By similarity. Membrane By similarity; Peripheral membrane protein By similarity. Late endosome By similarity. Recycling endosome By similarity. Lysosome 1 Publication
    Note: Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.By similarity

    GO - Cellular componenti

    1. exocytic vesicle Source: Ensembl
    2. late endosome Source: UniProtKB-SubCell
    3. lysosome Source: UniProtKB-SubCell
    4. membrane Source: UniProtKB-SubCell
    5. recycling endosome Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    A truncating mutation is the cause of the jinxed phenotype (jinx), a chemically-induced mutation that make mice susceptible to murine cytomegalovirus (MCMV). It is a mouse model of human type 3 familial hemophagocytic lymphohistiocytosis. Affected mice produce a truncated protein that lack the second of the C2 domains and part of the second MHD domain. In jinx homozygotes, activated NK cells and cytotoxic T-lymphocytes (CTLs) fail to degranulate, although they retain the ability to produce cytokines. Mice do not spontaneously develop clinical features of hemophagocytic lymphohistiocytosis (HLH), but do so when infected with lymphocytic choriomeningitis virus (LCMV), exhibiting hyperactivation of CTLs and antigen-presenting cells, and inadequate restriction of viral proliferation. In contrast, neither Listeria monocytogenes nor MCMV induce the syndrome.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10851085Protein unc-13 homolog DPRO_0000382950Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei149 – 1491Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiB2RUP2.
    PaxDbiB2RUP2.
    PRIDEiB2RUP2.

    Expressioni

    Tissue specificityi

    Mast cells.1 Publication

    Gene expression databases

    BgeeiB2RUP2.
    GenevestigatoriB2RUP2.

    Interactioni

    Subunit structurei

    Interacts with RAB27A and DOC2A. Both RAB27A and DOC2A can simultaneously bind UNC13D.1 Publication

    Structurei

    3D structure databases

    ProteinModelPortaliB2RUP2.
    SMRiB2RUP2. Positions 587-882, 911-1019.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini97 – 220124C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini554 – 674121MHD1PROSITE-ProRule annotationAdd
    BLAST
    Domaini785 – 892108MHD2PROSITE-ProRule annotationAdd
    BLAST
    Domaini909 – 1016108C2 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni239 – 542304Interaction with RAB27ABy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi21 – 266Poly-Arg

    Domaini

    The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.By similarity

    Sequence similaritiesi

    Belongs to the unc-13 family.Curated
    Contains 2 C2 domains.PROSITE-ProRule annotation
    Contains 1 MHD1 (MUNC13 homology domain 1) domain.PROSITE-ProRule annotation
    Contains 1 MHD2 (MUNC13 homology domain 2) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG290002.
    GeneTreeiENSGT00730000110939.
    HOGENOMiHOG000060231.
    InParanoidiA3R4M5.
    OMAiPYCLLGI.
    OrthoDBiEOG7XPZ4S.
    PhylomeDBiB2RUP2.
    TreeFamiTF315526.

    Family and domain databases

    Gene3Di2.60.40.150. 2 hits.
    InterProiIPR000008. C2_dom.
    IPR014770. Munc13_1.
    IPR014772. Munc13_dom-2.
    IPR019558. Munc13_subgr_dom-2.
    [Graphical view]
    PfamiPF00168. C2. 2 hits.
    PF10540. Membr_traf_MHD. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 2 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 4 hits.
    PROSITEiPS50004. C2. 2 hits.
    PS51258. MHD1. 1 hit.
    PS51259. MHD2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: B2RUP2-1) [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

    MATHLSHPQR RPLLRQAIKI RRRRVRDLQD PPPQATQEVQ VQSHHFSPEE     50
    RDLLYEEALY TVLHRLGQPE PNHVKEASEL LSYLQEAFQV QPEEHQQMLR 100
    RVRELEKPVF CLKATVKQAK GILGKDVSGF SDPYCLLGIE QKVGVAEGSP 150
    VSRRRQKAVV KHTIPEEETH RTQVKSQTLN PVWDETFILE FEDIANASFH 200
    LDMWDLDTVE SVRQKLGELT DLHGLRRIFK EARKDKGQDD FLGNVVLRLQ 250
    DLRCREDQWF PLEPCTETYP DRGQCHLQFQ FIHKRRATAA SRSQPSYTVH 300
    FHLLQQLVSH EVTQHQAGST SWDASLSPQA VTILFLHATQ KDLSDFHQSM 350
    AQWLAYSRLY QSLEFPSSCL LHPITSIEYQ WIQGRLKAEQ REELATSFTS 400
    LLAYGLSLIR KFRSVFPLSV SDSPSRLQSL LRVLVQMCKM KAFGELCPDS 450
    APLSQLVSEA LRMGTVEWFH LMQQHHQPMV QGILEAGKAL LNLVQDVMGD 500
    LYQCRRTWNK IFHNVLKIDL FSMAFLELQW LVAKRVQDHT VAAGNLVSPD 550
    IGESLFQLYV SLKELCQLGP VPSDSREVLA LDGFHRWFQP AIPSWLQKTY 600
    SVALERVQRA VQMDTLVPLG ELTKHSTSAV DLSTCFAQIS HTARQLDWPD 650
    PEEAFMITVK FVEDTCRLAL VYCSLIKARA RELSAVQKDQ SQAADMLCVV 700
    VNNMEQLRLI IDKLPTQLAW EALEQRVGAV LEEGQLQNTL HAQLQGALAG 750
    LGHEIRTGVR TLAEQLEVGI ATHIQKLIGV KESVLPEDAI LPLMKFLEVK 800
    LCYMNTNLVQ ENFSSLLTLL WTHTLTVLVE VASSQRSSSL ASGRLKVALQ 850
    NLEVCFHAEG CGLPPEALHT DTFQALQNDL ELQAASSREL IQKYFCSRIQ 900
    QQAETTSERL GAVTVKVSYR ASEQRLRVEL LSASSLLPLD SNGSSDPFVQ 950
    LTLEPRHEFP EVAPRETQKH KKELHPLFDE TFEFLVPAEP CQKAWACLLL 1000
    TVLDHDRLGA DDLEGEAFLP LCRVPGLTDC AEPGEAPQMR LPLTYPAPNG 1050
    DPILRLLESR KGDREAQAFV KLRRQRAKQA SQHAP 1085
    Length:1,085
    Mass (Da):123,119
    Last modified:September 1, 2009 - v2
    Checksum:iBA46A15BBF62B8B7
    GO
    Isoform 2 (identifier: B2RUP2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         480-481: Missing.

    Show »
    Length:1,083
    Mass (Da):122,892
    Checksum:iC0AF2730D27FA497
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti792 – 7921P → F in ABO15440. (PubMed:17420270)Curated
    Sequence conflicti796 – 7961F → N in ABO15440. (PubMed:17420270)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei480 – 4812Missing in isoform 2. 2 PublicationsVSP_037950

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF127645 mRNA. Translation: ABO15439.1.
    EF127646 Genomic DNA. Translation: ABO15440.1.
    AL607108 Genomic DNA. Translation: CAM24043.1.
    BC141289 mRNA. Translation: AAI41290.1.
    AK220199 mRNA. Translation: BAD90124.1.
    CCDSiCCDS25656.1. [B2RUP2-2]
    RefSeqiNP_001009573.2. NM_001009573.2. [B2RUP2-2]
    XP_006534251.1. XM_006534188.1. [B2RUP2-1]
    XP_006534252.1. XM_006534189.1. [B2RUP2-1]
    XP_006534253.1. XM_006534190.1. [B2RUP2-1]
    XP_006534254.1. XM_006534191.1. [B2RUP2-1]
    UniGeneiMm.259460.

    Genome annotation databases

    EnsembliENSMUST00000075036; ENSMUSP00000074549; ENSMUSG00000057948. [B2RUP2-2]
    ENSMUST00000106450; ENSMUSP00000102058; ENSMUSG00000057948. [B2RUP2-1]
    ENSMUST00000106451; ENSMUSP00000102059; ENSMUSG00000057948. [B2RUP2-1]
    ENSMUST00000173345; ENSMUSP00000133679; ENSMUSG00000057948.
    ENSMUST00000174822; ENSMUSP00000134260; ENSMUSG00000057948. [B2RUP2-2]
    GeneIDi70450.
    KEGGimmu:70450.
    UCSCiuc007mjt.1. mouse. [B2RUP2-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF127645 mRNA. Translation: ABO15439.1 .
    EF127646 Genomic DNA. Translation: ABO15440.1 .
    AL607108 Genomic DNA. Translation: CAM24043.1 .
    BC141289 mRNA. Translation: AAI41290.1 .
    AK220199 mRNA. Translation: BAD90124.1 .
    CCDSi CCDS25656.1. [B2RUP2-2 ]
    RefSeqi NP_001009573.2. NM_001009573.2. [B2RUP2-2 ]
    XP_006534251.1. XM_006534188.1. [B2RUP2-1 ]
    XP_006534252.1. XM_006534189.1. [B2RUP2-1 ]
    XP_006534253.1. XM_006534190.1. [B2RUP2-1 ]
    XP_006534254.1. XM_006534191.1. [B2RUP2-1 ]
    UniGenei Mm.259460.

    3D structure databases

    ProteinModelPortali B2RUP2.
    SMRi B2RUP2. Positions 587-882, 911-1019.
    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    MaxQBi B2RUP2.
    PaxDbi B2RUP2.
    PRIDEi B2RUP2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000075036 ; ENSMUSP00000074549 ; ENSMUSG00000057948 . [B2RUP2-2 ]
    ENSMUST00000106450 ; ENSMUSP00000102058 ; ENSMUSG00000057948 . [B2RUP2-1 ]
    ENSMUST00000106451 ; ENSMUSP00000102059 ; ENSMUSG00000057948 . [B2RUP2-1 ]
    ENSMUST00000173345 ; ENSMUSP00000133679 ; ENSMUSG00000057948 .
    ENSMUST00000174822 ; ENSMUSP00000134260 ; ENSMUSG00000057948 . [B2RUP2-2 ]
    GeneIDi 70450.
    KEGGi mmu:70450.
    UCSCi uc007mjt.1. mouse. [B2RUP2-2 ]

    Organism-specific databases

    CTDi 201294.
    MGIi MGI:1917700. Unc13d.

    Phylogenomic databases

    eggNOGi NOG290002.
    GeneTreei ENSGT00730000110939.
    HOGENOMi HOG000060231.
    InParanoidi A3R4M5.
    OMAi PYCLLGI.
    OrthoDBi EOG7XPZ4S.
    PhylomeDBi B2RUP2.
    TreeFami TF315526.

    Miscellaneous databases

    NextBioi 331645.
    PROi B2RUP2.
    SOURCEi Search...

    Gene expression databases

    Bgeei B2RUP2.
    Genevestigatori B2RUP2.

    Family and domain databases

    Gene3Di 2.60.40.150. 2 hits.
    InterProi IPR000008. C2_dom.
    IPR014770. Munc13_1.
    IPR014772. Munc13_dom-2.
    IPR019558. Munc13_subgr_dom-2.
    [Graphical view ]
    Pfami PF00168. C2. 2 hits.
    PF10540. Membr_traf_MHD. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 4 hits.
    PROSITEi PS50004. C2. 2 hits.
    PS51258. MHD1. 1 hit.
    PS51259. MHD2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis."
      Crozat K., Hoebe K., Ugolini S., Hong N.A., Janssen E., Rutschmann S., Mudd S., Sovath S., Vivier E., Beutler B.
      J. Exp. Med. 204:853-863(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 792-814, DISRUPTION PHENOTYPE.
      Strain: C57BL/6.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    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] (ISOFORM 2).
      Tissue: Brain.
    4. "Prediction of the coding sequences of mouse homologues of KIAA gene. The complete nucleotide sequences of mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R.F., Ohara R., Inamoto S., Nagase T., Ohara O., Koga H.
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 193-1085 (ISOFORM 2).
      Tissue: Spleen.
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-149, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    6. "Doc2 alpha and Munc13-4 regulate Ca(2+) -dependent secretory lysosome exocytosis in mast cells."
      Higashio H., Nishimura N., Ishizaki H., Miyoshi J., Orita S., Sakane A., Sasaki T.
      J. Immunol. 180:4774-4784(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH RAB27A AND DOC2A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiUN13D_MOUSE
    AccessioniPrimary (citable) accession number: B2RUP2
    Secondary accession number(s): A2A856
    , A3R4M4, A3R4M5, Q571J0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 1, 2009
    Last sequence update: September 1, 2009
    Last modified: October 1, 2014
    This is version 55 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