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B2RUP2

- UN13D_MOUSE

UniProt

B2RUP2 - UN13D_MOUSE

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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

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 - 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
Complete GO annotation...

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. endosome Source: UniProtKB-KW
  2. exocytic vesicle Source: Ensembl
  3. lysosome Source: UniProtKB-KW
  4. membrane Source: UniProtKB-KW
Complete GO annotation...

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.
ExpressionAtlasiB2RUP2. baseline and differential.
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.
InParanoidiB2RUP2.
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

        10         20         30         40         50
MATHLSHPQR RPLLRQAIKI RRRRVRDLQD PPPQATQEVQ VQSHHFSPEE
60 70 80 90 100
RDLLYEEALY TVLHRLGQPE PNHVKEASEL LSYLQEAFQV QPEEHQQMLR
110 120 130 140 150
RVRELEKPVF CLKATVKQAK GILGKDVSGF SDPYCLLGIE QKVGVAEGSP
160 170 180 190 200
VSRRRQKAVV KHTIPEEETH RTQVKSQTLN PVWDETFILE FEDIANASFH
210 220 230 240 250
LDMWDLDTVE SVRQKLGELT DLHGLRRIFK EARKDKGQDD FLGNVVLRLQ
260 270 280 290 300
DLRCREDQWF PLEPCTETYP DRGQCHLQFQ FIHKRRATAA SRSQPSYTVH
310 320 330 340 350
FHLLQQLVSH EVTQHQAGST SWDASLSPQA VTILFLHATQ KDLSDFHQSM
360 370 380 390 400
AQWLAYSRLY QSLEFPSSCL LHPITSIEYQ WIQGRLKAEQ REELATSFTS
410 420 430 440 450
LLAYGLSLIR KFRSVFPLSV SDSPSRLQSL LRVLVQMCKM KAFGELCPDS
460 470 480 490 500
APLSQLVSEA LRMGTVEWFH LMQQHHQPMV QGILEAGKAL LNLVQDVMGD
510 520 530 540 550
LYQCRRTWNK IFHNVLKIDL FSMAFLELQW LVAKRVQDHT VAAGNLVSPD
560 570 580 590 600
IGESLFQLYV SLKELCQLGP VPSDSREVLA LDGFHRWFQP AIPSWLQKTY
610 620 630 640 650
SVALERVQRA VQMDTLVPLG ELTKHSTSAV DLSTCFAQIS HTARQLDWPD
660 670 680 690 700
PEEAFMITVK FVEDTCRLAL VYCSLIKARA RELSAVQKDQ SQAADMLCVV
710 720 730 740 750
VNNMEQLRLI IDKLPTQLAW EALEQRVGAV LEEGQLQNTL HAQLQGALAG
760 770 780 790 800
LGHEIRTGVR TLAEQLEVGI ATHIQKLIGV KESVLPEDAI LPLMKFLEVK
810 820 830 840 850
LCYMNTNLVQ ENFSSLLTLL WTHTLTVLVE VASSQRSSSL ASGRLKVALQ
860 870 880 890 900
NLEVCFHAEG CGLPPEALHT DTFQALQNDL ELQAASSREL IQKYFCSRIQ
910 920 930 940 950
QQAETTSERL GAVTVKVSYR ASEQRLRVEL LSASSLLPLD SNGSSDPFVQ
960 970 980 990 1000
LTLEPRHEFP EVAPRETQKH KKELHPLFDE TFEFLVPAEP CQKAWACLLL
1010 1020 1030 1040 1050
TVLDHDRLGA DDLEGEAFLP LCRVPGLTDC AEPGEAPQMR LPLTYPAPNG
1060 1070 1080
DPILRLLESR KGDREAQAFV KLRRQRAKQA SQHAP
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 B2RUP2.
OMAi PYCLLGI.
OrthoDBi EOG7XPZ4S.
PhylomeDBi B2RUP2.
TreeFami TF315526.

Miscellaneous databases

NextBioi 331645.
PROi B2RUP2.
SOURCEi Search...

Gene expression databases

Bgeei B2RUP2.
ExpressionAtlasi B2RUP2. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 56 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