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Protein

Protein unc-13 homolog D

Gene

Unc13d

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

Keywordsi

Biological processExocytosis

Enzyme and pathway databases

ReactomeiR-MMU-6798695 Neutrophil degranulation

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:1917700 Unc13d

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
ChainiPRO_00003829501 – 1085Protein unc-13 homolog DAdd BLAST1085

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei149PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiB2RUP2
PaxDbiB2RUP2
PRIDEiB2RUP2

PTM databases

iPTMnetiB2RUP2
PhosphoSitePlusiB2RUP2

Expressioni

Tissue specificityi

Mast cells.1 Publication

Gene expression databases

BgeeiENSMUSG00000057948 Expressed in 66 organ(s), highest expression level in bone marrow
ExpressionAtlasiB2RUP2 baseline and differential
GenevisibleiB2RUP2 MM

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

CORUMiB2RUP2
STRINGi10090.ENSMUSP00000074549

Structurei

3D structure databases

ProteinModelPortaliB2RUP2
SMRiB2RUP2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini97 – 220C2 1PROSITE-ProRule annotationAdd BLAST124
Domaini554 – 674MHD1PROSITE-ProRule annotationAdd BLAST121
Domaini785 – 892MHD2PROSITE-ProRule annotationAdd BLAST108
Domaini909 – 1016C2 2PROSITE-ProRule annotationAdd BLAST108

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni239 – 542Interaction with RAB27ABy similarityAdd BLAST304

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi21 – 26Poly-Arg6

Domaini

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

Sequence similaritiesi

Belongs to the unc-13 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1328 Eukaryota
ENOG410Z3Q9 LUCA
GeneTreeiENSGT00730000110939
HOGENOMiHOG000060231
InParanoidiB2RUP2
KOiK19728
OMAiHQCQRTW
OrthoDBiEOG091G024N
PhylomeDBiB2RUP2
TreeFamiTF315526

Family and domain databases

Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR014770 Munc13_1
IPR014772 Munc13_dom-2
IPR019558 Munc13_subgr_dom-2
PfamiView protein in Pfam
PF00168 C2, 2 hits
PF10540 Membr_traf_MHD, 2 hits
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits
PS51258 MHD1, 1 hit
PS51259 MHD2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0R4J257A0A0R4J257_MOUSE
Protein unc-13 homolog D
Unc13d
834Annotation score:
A2A858A2A858_MOUSE
Protein unc-13 homolog D
Unc13d
76Annotation score:
A2A855A2A855_MOUSE
Protein unc-13 homolog D
Unc13d
117Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti792P → F in ABO15440 (PubMed:17420270).Curated1
Sequence conflicti796F → N in ABO15440 (PubMed:17420270).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037950480 – 481Missing in isoform 2. 2 Publications2

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_006534188.2 [B2RUP2-1]
XP_006534252.1, XM_006534189.2 [B2RUP2-1]
XP_006534253.1, XM_006534190.2 [B2RUP2-1]
XP_011247556.1, XM_011249254.2 [B2RUP2-2]
UniGeneiMm.259460

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
CCDSiCCDS25656.1 [B2RUP2-2]
RefSeqiNP_001009573.2, NM_001009573.2 [B2RUP2-2]
XP_006534251.1, XM_006534188.2 [B2RUP2-1]
XP_006534252.1, XM_006534189.2 [B2RUP2-1]
XP_006534253.1, XM_006534190.2 [B2RUP2-1]
XP_011247556.1, XM_011249254.2 [B2RUP2-2]
UniGeneiMm.259460

3D structure databases

ProteinModelPortaliB2RUP2
SMRiB2RUP2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

CORUMiB2RUP2
STRINGi10090.ENSMUSP00000074549

PTM databases

iPTMnetiB2RUP2
PhosphoSitePlusiB2RUP2

Proteomic databases

MaxQBiB2RUP2
PaxDbiB2RUP2
PRIDEiB2RUP2

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi201294
MGIiMGI:1917700 Unc13d

Phylogenomic databases

eggNOGiKOG1328 Eukaryota
ENOG410Z3Q9 LUCA
GeneTreeiENSGT00730000110939
HOGENOMiHOG000060231
InParanoidiB2RUP2
KOiK19728
OMAiHQCQRTW
OrthoDBiEOG091G024N
PhylomeDBiB2RUP2
TreeFamiTF315526

Enzyme and pathway databases

ReactomeiR-MMU-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiUnc13d mouse
PROiPR:B2RUP2
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000057948 Expressed in 66 organ(s), highest expression level in bone marrow
ExpressionAtlasiB2RUP2 baseline and differential
GenevisibleiB2RUP2 MM

Family and domain databases

Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR014770 Munc13_1
IPR014772 Munc13_dom-2
IPR019558 Munc13_subgr_dom-2
PfamiView protein in Pfam
PF00168 C2, 2 hits
PF10540 Membr_traf_MHD, 2 hits
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits
PS51258 MHD1, 1 hit
PS51259 MHD2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUN13D_MOUSE
AccessioniPrimary (citable) accession number: B2RUP2
Secondary accession number(s): A2A856
, A3R4M4, A3R4M5, Q571J0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 1, 2009
Last sequence update: September 1, 2009
Last modified: November 7, 2018
This is version 83 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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