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Protein

Differentially expressed in FDCP 6

Gene

Def6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling. Required for optimal T-cell effector function, lymphocyte homeostasis and the prevention of systemic autoimmunity (By similarity).By similarity2 Publications

Names & Taxonomyi

Protein namesi
Recommended name:
Differentially expressed in FDCP 6
Short name:
DEF-6
Alternative name(s):
IRF4-binding protein
SWAP-70-like adapter of T-cells
Gene namesi
Name:Def6
Synonyms:Ibp, Slat
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1346328 Def6

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

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in Def6 results in spontaneous development of a lupus-like syndrome in aging female mice. It is characterized by the accumulation of effector/memory T-cells and IgG B-cells, profound hypergammaglobulinemia, autoantibody production, and glomerulonephritis.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002945231 – 630Differentially expressed in FDCP 6Add BLAST630

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei210PhosphotyrosineBy similarity1
Modified residuei225N6-acetyllysineBy similarity1
Modified residuei590PhosphoserineBy similarity1

Post-translational modificationi

Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8C2K1
PaxDbiQ8C2K1
PeptideAtlasiQ8C2K1
PRIDEiQ8C2K1

PTM databases

iPTMnetiQ8C2K1
PhosphoSitePlusiQ8C2K1

Expressioni

Tissue specificityi

Thymus.1 Publication

Inductioni

Up-regulated in differentiating Th2 cells and down-regulated in Th1 cells.1 Publication

Gene expression databases

CleanExiMM_DEF6

Interactioni

Subunit structurei

Interacts with IRF4, activated RAC1 and F-actin. Both the phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) (By similarity). Interacts with ZAP70.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Itga7Q61738-63EBI-2121188,EBI-1786329

Protein-protein interaction databases

IntActiQ8C2K1, 2 interactors
STRINGi10090.ENSMUSP00000002327

Structurei

3D structure databases

ProteinModelPortaliQ8C2K1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini216 – 312PHPROSITE-ProRule annotationAdd BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi57 – 60Poly-Asp4
Compositional biasi331 – 497Glu-richAdd BLAST167

Domaini

The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.

Phylogenomic databases

eggNOGiENOG410IG09 Eukaryota
ENOG410Z316 LUCA
HOVERGENiHBG053201
InParanoidiQ8C2K1
PhylomeDBiQ8C2K1
TreeFamiTF333160

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8C2K1-1) [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
MALRKELLKS IWYAFTALDV EKSGKVSKSQ LKVLSHNLYT VLNIPHDPVA
60 70 80 90 100
LEEHFRDDDD GPVSSQGYMP YLNKYILDKV EEGAFVKEHF DELCWTLTAK
110 120 130 140 150
KNYRADGIGS SPLSNQDAFR LWCLFNFLSE DKYPLIMVPD EVEYLLKKLL
160 170 180 190 200
GSLSLEMGLG ELEELLAQDA QSAQTAVGLS VWQFLELFNS GRCLRGVGRD
210 220 230 240 250
SLSMAIQEVY QELIQDVLKQ GYLWKRGHLR RNWAERWFQL QPSSLCYFGS
260 270 280 290 300
EECKEKRGTI PLDAHCCVEV LPDREGKRCM FCVKTASRTY EMSASDTRQR
310 320 330 340 350
QEWTAAIQTA IRLQAEGKTS LHKDLKQKRR EQREQRERRR AAKEEELLRL
360 370 380 390 400
QQLQEEKERK LQELELLQEA QRQAERLLQE EEERRRSQHK ELQQALEGQL
410 420 430 440 450
REAEQARASM QAEMELKKEE AARQRQRIAE LEEMQERLQE ALQLEVKARR
460 470 480 490 500
DEEAVRLAQT RLLEEEEEKL KQLMHLKEEQ ERYIERAQQE KQELQQEMAL
510 520 530 540 550
QSRSLQHAQQ QLEEVRQNRQ RADEDVEAAQ RKLRQASTNV KHWNVQMNRL
560 570 580 590 600
MHPIEPGDKR PTTSSSFTGF QPPPLARRDS SLKRLTRWGS QGNRTLSVNS
610 620 630
SEQKSLNGGD ETPILALASQ EEKLDPAPGN
Length:630
Mass (Da):73,454
Last modified:March 1, 2003 - v1
Checksum:i309E060522DD91E0
GO
Isoform 2 (identifier: Q8C2K1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     33-405: Missing.

Show »
Length:257
Mass (Da):29,805
Checksum:iD4706836E23E1E9D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0R4IZX1A0A0R4IZX1_MOUSE
Differentially-expressed in FDCP 6
Def6
630Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti48P → T in BAE20528 (PubMed:16141072).Curated1
Sequence conflicti134P → Q in BAE20528 (PubMed:16141072).Curated1
Sequence conflicti161E → K in AAO91768 (PubMed:12651066).Curated1
Sequence conflicti161E → K in BAE20528 (PubMed:16141072).Curated1
Sequence conflicti161E → K in AAI20501 (PubMed:19468303).Curated1
Sequence conflicti161E → K in AAI31954 (PubMed:19468303).Curated1
Sequence conflicti279C → S in AAO91768 (PubMed:12651066).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02667133 – 405Missing in isoform 2. 1 PublicationAdd BLAST373

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY278770 mRNA Translation: AAQ19048.1
AF329497 mRNA Translation: AAO67354.1
AY241695 mRNA Translation: AAO91768.1
AK010356 mRNA Translation: BAB26876.1
AK038050 mRNA Translation: BAE20528.1
AK088460 mRNA Translation: BAC40366.1
CT009658 Genomic DNA No translation available.
BC120500 mRNA Translation: AAI20501.1
BC131953 mRNA Translation: AAI31954.1
CCDSiCCDS28574.1 [Q8C2K1-1]
RefSeqiNP_081461.2, NM_027185.3
UniGeneiMm.204731

Genome annotation databases

GeneIDi23853
KEGGimmu:23853
UCSCiuc008bqi.2 mouse [Q8C2K1-1]
uc012aoe.1 mouse [Q8C2K1-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY278770 mRNA Translation: AAQ19048.1
AF329497 mRNA Translation: AAO67354.1
AY241695 mRNA Translation: AAO91768.1
AK010356 mRNA Translation: BAB26876.1
AK038050 mRNA Translation: BAE20528.1
AK088460 mRNA Translation: BAC40366.1
CT009658 Genomic DNA No translation available.
BC120500 mRNA Translation: AAI20501.1
BC131953 mRNA Translation: AAI31954.1
CCDSiCCDS28574.1 [Q8C2K1-1]
RefSeqiNP_081461.2, NM_027185.3
UniGeneiMm.204731

3D structure databases

ProteinModelPortaliQ8C2K1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8C2K1, 2 interactors
STRINGi10090.ENSMUSP00000002327

PTM databases

iPTMnetiQ8C2K1
PhosphoSitePlusiQ8C2K1

Proteomic databases

EPDiQ8C2K1
PaxDbiQ8C2K1
PeptideAtlasiQ8C2K1
PRIDEiQ8C2K1

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi23853
KEGGimmu:23853
UCSCiuc008bqi.2 mouse [Q8C2K1-1]
uc012aoe.1 mouse [Q8C2K1-2]

Organism-specific databases

CTDi50619
MGIiMGI:1346328 Def6

Phylogenomic databases

eggNOGiENOG410IG09 Eukaryota
ENOG410Z316 LUCA
HOVERGENiHBG053201
InParanoidiQ8C2K1
PhylomeDBiQ8C2K1
TreeFamiTF333160

Miscellaneous databases

PROiPR:Q8C2K1
SOURCEiSearch...

Gene expression databases

CleanExiMM_DEF6

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDEFI6_MOUSE
AccessioniPrimary (citable) accession number: Q8C2K1
Secondary accession number(s): A1KXF9
, B2KF17, Q0VBU6, Q3V3M7, Q80XA9, Q9CRJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 120 of the entry and version 1 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. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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