DEF6
entrez
50619
canonical
uniprot
Q9H4E7
canonical
ensembl
ENSG00000023892
resolver
ensp
ENSP00000319831
resolver
enst
ENST00000316637
resolver
genesymbol
DEF6
resolver
genesymbol_syn
IBP
resolver
hgnc
HGNC:2760
resolver
uniprot
Q86VF4
resolver
uniprot_entry
DEFI6_HUMAN
resolver
uniprot_sec
Q86VF4
resolver
amino_acid_sequence
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQLQPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNSNEQQKSLNGGDEAPAPASTPQEDKLDPAPEN
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 87 and autoimmunity (IMD87) [MIM:619573]: An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. {ECO:0000269|PubMed:31308374, ECO:0000269|PubMed:32562707}. Note=The disease is caused by variants affecting the gene represented in this entry.
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:12651066, PubMed:15023524). Can regulate cell morphology in cooperation with activated RAC1 (By similarity). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface (PubMed:31308374). Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity). {ECO:0000250|UniProtKB:Q8C2K1, ECO:0000269|PubMed:12651066, ECO:0000269|PubMed:15023524, ECO:0000269|PubMed:31308374}.
uniprot
proteins
mass_dalton
73910
uniprot
proteins
mutagenesis
MUTAGEN 18; /note="L->N: Abolishes interaction with RAC1."; /evidence="ECO:0000269|PubMed:17121847"; MUTAGEN 31..33; /note="LKV->NKS: Abolishes interaction with RAC1."; /evidence="ECO:0000269|PubMed:17121847"; MUTAGEN 210; /note="Y->F: Loss of phosphorylation by LCK and abolition of PtdInsP3 binding."; /evidence="ECO:0000269|PubMed:12923183"; MUTAGEN 225..226; /note="KR->AA: Abolishes PtdInsP3 binding."; /evidence="ECO:0000269|PubMed:17121847"; MUTAGEN 230..231; /note="RR->AA: Abolishes PtdInsP3 binding."; /evidence="ECO:0000269|PubMed:17121847"; MUTAGEN 236; /note="R->C: Abolishes PtdInsP3 binding."; /evidence="ECO:0000269|PubMed:12923183
uniprot
proteins
post_translational_modification
PTM: Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation. {ECO:0000269|PubMed:12923183}.
uniprot
proteins
pubmed
12651066
uniprot
proteins
pubmed
12923183
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15023524
uniprot
proteins
pubmed
17121847
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31308374
uniprot
proteins
pubmed
31578334
uniprot
proteins
pubmed
32562707
uniprot
proteins
sequence_length
631
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15023524}. Cell membrane {ECO:0000269|PubMed:15023524, ECO:0000305|PubMed:12651066}. Nucleus {ECO:0000269|PubMed:15023524}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15023524}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15023524}. Cell projection, filopodium {ECO:0000269|PubMed:15023524}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate (PubMed:15023524). Binds to actin filaments (PubMed:15023524). {ECO:0000269|PubMed:15023524}.
uniprot
proteins