##gff-version 3 Q9H902 UniProtKB Chain 1 201 . . . ID=PRO_0000101821;Note=Receptor expression-enhancing protein 1 Q9H902 UniProtKB Transmembrane 1 21 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9H902 UniProtKB Transmembrane 35 55 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9H902 UniProtKB Region 158 201 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9H902 UniProtKB Compositional bias 185 201 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9H902 UniProtKB Modified residue 152 152 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 Q9H902 UniProtKB Alternative sequence 1 35 . . . ID=VSP_042573;Note=In isoform 2. MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEY->MDHLQAGG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9H902 UniProtKB Alternative sequence 1 11 . . . ID=VSP_043251;Note=In isoform 3. MVSWIISRLVV->MQKVLSNGQTEEVRSGSR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9H902 UniProtKB Alternative sequence 62 201 . . . ID=VSP_043252;Note=In isoform 4. FPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA->DRVPYRRDCGASACRTSPPSGETAPLLPRAPHHRGLGGPAANTASLRCPGVLLRALAAQAPPRILRSRFRKKSTSSSATETT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9H902 UniProtKB Natural variant 19 19 . . . ID=VAR_067265;Note=In SPG31%3B impairs normal ER-targeting. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21618648,ECO:0000269|PubMed:24478229;Dbxref=PMID:21618648,PMID:24478229 Q9H902 UniProtKB Natural variant 19 19 . . . ID=VAR_072609;Note=In SPG31%3B impairs normal ER-targeting. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24478229;Dbxref=dbSNP:rs1060503496,PMID:24478229 Q9H902 UniProtKB Natural variant 20 20 . . . ID=VAR_027351;Note=In SPG31%3B loss of function mutation%3B shows severely altered localization to numerous punctate small structures throughout the cytoplasm%3B does not localize to the endoplasmic reticulum%3B impairs normal ER targeting. A->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16826527,ECO:0000269|PubMed:20718791,ECO:0000269|PubMed:22703882,ECO:0000269|PubMed:24478229;Dbxref=dbSNP:rs121918262,PMID:16826527,PMID:20718791,PMID:22703882,PMID:24478229 Q9H902 UniProtKB Natural variant 23 23 . . . ID=VAR_067266;Note=In SPG31%3B impairs normal ER-targeting. S->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21618648,ECO:0000269|PubMed:24478229;Dbxref=PMID:21618648,PMID:24478229 Q9H902 UniProtKB Natural variant 42 42 . . . ID=VAR_067267;Note=In SPG31 and HMNR6%3B impairs normal ER-targeting. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21618648,ECO:0000269|PubMed:24478229,ECO:0000269|PubMed:31872057;Dbxref=PMID:21618648,PMID:24478229,PMID:31872057 Q9H902 UniProtKB Natural variant 55 55 . . . ID=VAR_072610;Note=In SPG31%3B uncertain significance%3B does not impair normal ER-targeting. T->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18644145,ECO:0000269|PubMed:24478229;Dbxref=dbSNP:rs1677004351,PMID:18644145,PMID:24478229 Q9H902 UniProtKB Natural variant 56 56 . . . ID=VAR_067268;Note=In SPG31%3B uncertain significance%3B does not impair normal ER-targeting. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21618648,ECO:0000269|PubMed:24478229;Dbxref=dbSNP:rs1060503493,PMID:21618648,PMID:24478229 Q9H902 UniProtKB Natural variant 107 107 . . . ID=VAR_072611;Note=In SPG31. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18644145;Dbxref=PMID:18644145