##gff-version 3 P55160 UniProtKB Chain 1 1127 . . . ID=PRO_0000216175;Note=Nck-associated protein 1-like P55160 UniProtKB Transmembrane 996 1016 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P55160 UniProtKB Region 638 670 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P55160 UniProtKB Compositional bias 650 670 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P55160 UniProtKB Alternative sequence 1 50 . . . ID=VSP_045191;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P55160 UniProtKB Natural variant 258 258 . . . ID=VAR_084644;Note=In IMD72%3B loss of function%3B decreased protein levels in T-cells%3B T-cells display excessive degranulation and granule release. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32647003;Dbxref=dbSNP:rs1956891911,PMID:32647003 P55160 UniProtKB Natural variant 359 359 . . . ID=VAR_084645;Note=In IMD72%3B loss of function%3B decreased protein levels in T-cells%3B decreased interaction with WASF2 and poor formation of WAVE2 complex%3B T-cells display excessive degranulation and granule release%3B cells exhibit reduced cortical F-actin and aberrant membrane spikes and WAS-mediated puncta%2C defective cell spreading and lamellipodia and reduced migratory velocity%2C as well as abnormal activation%2C blunted proliferation%2C decreased IL2 and TNF production and defective TCR-induced phosphorylation of mTORC2 complex substrate AKT%3B homozygous patient neutrophils migrating in chemokine gradients exhibit reduced velocity and directional persistence%2C unusual elongation and misdirected competing leading edges%3B no effect on interaction with RICTOR. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32647003;Dbxref=dbSNP:rs770633648,PMID:32647003 P55160 UniProtKB Natural variant 371 371 . . . ID=VAR_084646;Note=In IMD72%3B loss of function%3B T-cells display excessive degranulation and granule release%3B no effect on protein levels in T-cells%2C nor on interaction with WASF2%3B when tested in a heterologous system%2C formed WAVE complexes that poorly interact with ARF1 and could not promote F-actin polymerization upon stimulation with an ARF1-RAC1 dimer%3B no effect on interaction with RICTOR. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32647003;Dbxref=dbSNP:rs750982844,PMID:32647003 P55160 UniProtKB Natural variant 391 391 . . . ID=VAR_059316;Note=T->A;Dbxref=dbSNP:rs7311877 P55160 UniProtKB Natural variant 402 402 . . . ID=VAR_049344;Note=S->L;Dbxref=dbSNP:rs2270581 P55160 UniProtKB Natural variant 519 519 . . . ID=VAR_084647;Note=In IMD72%3B loss of function%3B decreased protein levels in T-cells%3B decreased interaction with WASF2 and poor formation of WAVE2 complex. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32647003;Dbxref=dbSNP:rs1956961224,PMID:32647003 P55160 UniProtKB Sequence conflict 496 496 . . . Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P55160 UniProtKB Sequence conflict 768 769 . . . Note=NA->KP;Ontology_term=ECO:0000305;evidence=ECO:0000305 P55160 UniProtKB Sequence conflict 1060 1060 . . . Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305