##gff-version 3 Q99732 UniProtKB Chain 1 161 . . . ID=PRO_0000084440;Note=Lipopolysaccharide-induced tumor necrosis factor-alpha factor Q99732 UniProtKB Domain 76 160 . . . Note=LITAF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01181 Q99732 UniProtKB Region 1 22 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99732 UniProtKB Region 111 134 . . . Note=Membrane-binding amphipathic helix;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27927196;Dbxref=PMID:27927196 Q99732 UniProtKB Motif 17 20 . . . Note=PSAP motif%3B important for interaction with TSG101;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16118794,ECO:0000269|PubMed:23166352;Dbxref=PMID:16118794,PMID:23166352 Q99732 UniProtKB Motif 20 23 . . . Note=PPxY motif;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15064722,ECO:0000269|PubMed:23166352,ECO:0000269|PubMed:27927196;Dbxref=PMID:15064722,PMID:23166352,PMID:27927196 Q99732 UniProtKB Compositional bias 7 22 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99732 UniProtKB Binding site 96 96 . . . Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:27582497,ECO:0000305|PubMed:27927196;Dbxref=PMID:27582497,PMID:27927196 Q99732 UniProtKB Binding site 99 99 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27927196;Dbxref=PMID:27927196 Q99732 UniProtKB Binding site 148 148 . . . Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:27582497,ECO:0000305|PubMed:27927196;Dbxref=PMID:27582497,PMID:27927196 Q99732 UniProtKB Binding site 151 151 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:27927196;Dbxref=PMID:27927196 Q99732 UniProtKB Alternative sequence 127 161 . . . ID=VSP_016461;Note=In isoform 2. CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL->VHSGLLLHPLLRGCPAGRGPLLSQLQSSPGHLQAFVGLSQTWREPGAAGSPFHLSSSFTPGGGSALVVSPLQGAHLHVFFWGEYVAKLTNLQTPEIAAWSRA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10200294,ECO:0000303|PubMed:9305847;Dbxref=PMID:10200294,PMID:9305847 Q99732 UniProtKB Alternative sequence 127 161 . . . ID=VSP_045701;Note=In isoform 3. CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL->QECSGTIVALRSFDLLGSCNPPSSAS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q99732 UniProtKB Natural variant 23 23 . . . ID=VAR_024014;Note=In one EMPD primary tumor%3B somatic mutation. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15197774;Dbxref=PMID:15197774 Q99732 UniProtKB Natural variant 49 49 . . . ID=VAR_024015;Note=In CMT1C. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776429;Dbxref=dbSNP:rs141862602,PMID:15776429 Q99732 UniProtKB Natural variant 92 92 . . . ID=VAR_024016;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776429,ECO:0000269|PubMed:15786462;Dbxref=dbSNP:rs4280262,PMID:15776429,PMID:15786462 Q99732 UniProtKB Natural variant 112 112 . . . ID=VAR_024017;Note=In CMT1C%3B does not abolish interaction with NEDD4 and TSG101. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12525712,ECO:0000269|PubMed:15776429,ECO:0000269|PubMed:15786462,ECO:0000269|PubMed:16118794,ECO:0000269|PubMed:24604904;Dbxref=dbSNP:rs104894519,PMID:12525712,PMID:15776429,PMID:15786462,PMID:16118794,PMID:24604904 Q99732 UniProtKB Natural variant 115 115 . . . ID=VAR_024018;Note=In CMT1C%3B does not abolish interaction with NEDD4 and TSG101. T->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12525712,ECO:0000269|PubMed:16118794;Dbxref=dbSNP:rs104894520,PMID:12525712,PMID:16118794 Q99732 UniProtKB Natural variant 116 116 . . . ID=VAR_024019;Note=In CMT1C%3B decreases protein stability and association with early endosome membranes%3B impaired function in targeting endocytosed proteins for lysosomal degradation%3B does not abolish interaction with NEDD4 and TSG101. W->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12525712,ECO:0000269|PubMed:16118794,ECO:0000269|PubMed:21896645,ECO:0000269|PubMed:23166352;Dbxref=dbSNP:rs104894521,PMID:12525712,PMID:16118794,PMID:21896645,PMID:23166352 Q99732 UniProtKB Natural variant 122 122 . . . ID=VAR_024020;Note=In CMT1C. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776429;Dbxref=dbSNP:rs104894522,PMID:15776429 Q99732 UniProtKB Mutagenesis 17 20 . . . Note=Impaired function in targeting endocytosed proteins for lysosomal degradation. PSAP->ASAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23166352;Dbxref=PMID:23166352 Q99732 UniProtKB Mutagenesis 17 19 . . . Note=Abolishes interaction with TSG101. PSA->AGG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16118794;Dbxref=PMID:16118794 Q99732 UniProtKB Mutagenesis 23 23 . . . Note=Abolishes interaction with NEDD4. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16118794;Dbxref=PMID:16118794 Q99732 UniProtKB Mutagenesis 23 23 . . . Note=Abolishes interaction with WWOX. Abolishes interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes%3B when associated with A-61. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15064722,ECO:0000269|PubMed:27927196;Dbxref=PMID:15064722,PMID:27927196 Q99732 UniProtKB Mutagenesis 61 61 . . . Note=No effect on interaction with WWOX. No effect on interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes%3B when associated with A-23. Y->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15064722,ECO:0000269|PubMed:27927196;Dbxref=PMID:15064722,PMID:27927196 Q99732 UniProtKB Mutagenesis 96 96 . . . Note=Abolishes association with cytoplasmic vesicle membranes. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27582497;Dbxref=PMID:27582497 Q99732 UniProtKB Mutagenesis 135 135 . . . Note=Decreases protein stability and association with early endosome membranes. Impaired function in targeting endocytosed proteins for lysosomal degradation. P->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21896645,ECO:0000269|PubMed:23166352;Dbxref=PMID:21896645,PMID:23166352 Q99732 UniProtKB Mutagenesis 144 144 . . . Note=No effect on location at endosomes%2C but impairs protein stability. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27927196;Dbxref=PMID:27927196 Q99732 UniProtKB Mutagenesis 148 148 . . . Note=Abolishes association with cytoplasmic vesicle membranes. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27582497;Dbxref=PMID:27582497 Q99732 UniProtKB Natural variant 174 174 . . . ID=VAR_082859;Note=Found as a somatic mutation in a EMPD primary tumor. A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305