Def6
entrez
23853
canonical
uniprot
Q8C2K1
canonical
ensembl
ENSMUSG00000002257
resolver
ensp
ENSMUSP00000002327
resolver
enst
ENSMUST00000002327
resolver
genesymbol
Def6
resolver
genesymbol_syn
Ibp
resolver
genesymbol_syn
Slat
resolver
uniprot
A0A0R4IZX1
resolver
uniprot
A1KXF9
resolver
uniprot
B2KF17
resolver
uniprot
Q0VBU6
resolver
uniprot
Q3V3M7
resolver
uniprot
Q80XA9
resolver
uniprot
Q9CRJ2
resolver
uniprot_entry
A0A0R4IZX1_MOUSE
resolver
uniprot_entry
DEFI6_MOUSE
resolver
uniprot_sec
A1KXF9
resolver
uniprot_sec
B2KF17
resolver
uniprot_sec
Q0VBU6
resolver
uniprot_sec
Q3V3M7
resolver
uniprot_sec
Q80XA9
resolver
uniprot_sec
Q9CRJ2
resolver
amino_acid_sequence
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLNIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADGIGSSPLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKLLGSLSLEMGLGELEELLAQDAQSAQTAVGLSVWQFLELFNSGRCLRGVGRDSLSMAIQEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQLQPSSLCYFGSEECKEKRGTIPLDAHCCVEVLPDREGKRCMFCVKTASRTYEMSASDTRQRQEWTAAIQTAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHKELQQALEGQLREAEQARASMQAEMELKKEEAARQRQRIAELEEMQERLQEALQLEVKARRDEEAVRLAQTRLLEEEEEKLKQLMHLKEEQERYIERAQQEKQELQQEMALQSRSLQHAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPTTSSSFTGFQPPPLARRDSSLKRLTRWGSQGNRTLSVNSSEQKSLNGGDETPILALASQEEKLDPAPGN
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:12923183}.
uniprot
proteins
function
FUNCTION: 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 (PubMed:12648457, PubMed:12923183). Can regulate cell morphology in cooperation with activated RAC1 (PubMed:12648457, PubMed:12923183). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface (By similarity). 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). {ECO:0000250|UniProtKB:Q9H4E7, ECO:0000269|PubMed:12648457, ECO:0000269|PubMed:12923183}.
uniprot
proteins
mass_dalton
73454
uniprot
proteins
post_translational_modification
PTM: Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation. {ECO:0000250}.
uniprot
proteins
pubmed
12648457
uniprot
proteins
pubmed
12651066
uniprot
proteins
pubmed
12923183
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
630
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12648457}. Cell membrane {ECO:0000269|PubMed:12648457}. Nucleus {ECO:0000250|UniProtKB:Q9H4E7}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9H4E7}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9H4E7}. Cell projection, filopodium {ECO:0000250|UniProtKB:Q9H4E7}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate. Binds to actin filaments. {ECO:0000250|UniProtKB:Q9H4E7}.
uniprot
proteins