ID  Q9H4E7;
PN  Differentially expressed in FDCP 6 homolog;
GN  DEF6;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: 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}.
DR  UNIPROT: Q9H4E7;
DR  UNIPROT: Q86VF4;
DR  Pfam: PF00169;
DR  PROSITE: PS50003;
DR  OMIM: 610094;
DR  OMIM: 619573;
DR  DisGeNET: 50619;
DE  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}.
DE  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.
DE  Reference Proteome: Yes;
DE  Interaction: O15162; IntAct: EBI-10306705; Score: 0.56
DE  Interaction: Q9H0H0; IntAct: EBI-24620161; Score: 0.56
DE  Interaction: Q9BUH8; IntAct: EBI-754471; Score: 0.37
DE  Interaction: Q61738; IntAct: EBI-1786346; Score: 0.37
DE  Interaction: Q8ZAR2; IntAct: EBI-2871608; Score: 0.00
DE  Interaction: Q8D0E1; IntAct: EBI-2871601; Score: 0.00
DE  Interaction: I6L996; IntAct: EBI-10306695; Score: 0.72
DE  Interaction: Q8IX15; IntAct: EBI-10306735; Score: 0.56
DE  Interaction: P15884; IntAct: EBI-10306715; Score: 0.67
DE  Interaction: Q00587; IntAct: EBI-10306725; Score: 0.56
DE  Interaction: Q96AQ6; IntAct: EBI-10306747; Score: 0.56
DE  Interaction: Q9NRA8; IntAct: EBI-10306757; Score: 0.56
DE  Interaction: A6NEM1; IntAct: EBI-24304101; Score: 0.56
DE  Interaction: Q96JM7; IntAct: EBI-24305175; Score: 0.56
DE  Interaction: Q86T90; IntAct: EBI-24326579; Score: 0.56
DE  Interaction: A6NC98; IntAct: EBI-24344394; Score: 0.56
DE  Interaction: P25786; IntAct: EBI-24699153; Score: 0.56
DE  Interaction: Q96N21; IntAct: EBI-24729596; Score: 0.56
DE  Interaction: O95391; IntAct: EBI-24748905; Score: 0.56
DE  Interaction: O00422; IntAct: EBI-24753175; Score: 0.56
DE  Interaction: Q8WZA2; IntAct: EBI-23888902; Score: 0.56
DE  Interaction: Q86YV0; IntAct: EBI-24370130; Score: 0.56
DE  Interaction: Q9NYA3; IntAct: EBI-24382536; Score: 0.56
DE  Interaction: Q04864; IntAct: EBI-24401680; Score: 0.56
DE  Interaction: Q15323; IntAct: EBI-24408384; Score: 0.56
DE  Interaction: Q7Z5H3; IntAct: EBI-25263076; Score: 0.56
DE  Interaction: Q0VD86; IntAct: EBI-24580521; Score: 0.56
DE  Interaction: P0C7X2; IntAct: EBI-24745278; Score: 0.56
DE  Interaction: Q9ULK0; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q9P258; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q9NXR7; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q9NXF7; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q9NWV8; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q9HCJ0; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q96JM3; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q92625; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q8N6N3; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q8IUH3; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q7Z4W1; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q15018; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q04759; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: Q00653; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: P46736; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: P35612; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: P28370; IntAct: EBI-21558763; Score: 0.35
DE  Interaction: A6NI28; IntAct: EBI-21558763; Score: 0.35
GO  GO:0005737;
GO  GO:0005856;
GO  GO:0005829;
GO  GO:0030175;
GO  GO:0016020;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0005886;
GO  GO:0005085;
GO  GO:0051056;
GO  GO:0098876;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDDGPVSSQGYMPYLNKYILDKV
SQ  EEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFRLWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLG
SQ  ELEELLAQEAQVAQTTGGLSVWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQL
SQ  QPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQRQEWTAAIQMAIRLQAEGKTS
SQ  LHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERKLQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQL
SQ  REAEQARASMQAEMELKEEEAARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQ
SQ  ERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNVKHWNVQMNRLMHPIEPGDKR
SQ  PVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNSNEQQKSLNGGDEAPAPASTPQEDKLDPAPEN
//