##gff-version 3 Q6P1J9 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Q6P1J9 UniProtKB Chain 2 531 . . . ID=PRO_0000191803;Note=Parafibromin Q6P1J9 UniProtKB Region 200 531 . . . Note=Interaction with POLR2A and PAF1 Q6P1J9 UniProtKB Region 200 250 . . . Note=Interaction with CTNNB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16630820;Dbxref=PMID:16630820 Q6P1J9 UniProtKB Region 260 292 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q6P1J9 UniProtKB Region 325 358 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q6P1J9 UniProtKB Motif 125 139 . . . Note=Nuclear localization signal Q6P1J9 UniProtKB Compositional bias 325 340 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q6P1J9 UniProtKB Modified residue 2 2 . . . Note=N-acetylalanine;Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|Ref.6,ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Q6P1J9 UniProtKB Modified residue 212 212 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Q6P1J9 UniProtKB Cross-link 198 198 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Q6P1J9 UniProtKB Cross-link 301 301 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:25218447,ECO:0007744|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Q6P1J9 UniProtKB Cross-link 308 308 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Q6P1J9 UniProtKB Cross-link 321 321 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Q6P1J9 UniProtKB Natural variant 2 2 . . . ID=VAR_064927;Note=Found in parathyroid adenoma samples%3B somatic mutation%3B parathyroid adenoma samples are from a patient with isolated hyperparathyroidism who also carries germline mutation P-91. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17639062;Dbxref=PMID:17639062 Q6P1J9 UniProtKB Natural variant 5 10 . . . ID=VAR_064928;Note=In HRPT2%3B uncertain significance%3B found as somatic mutation in a parathyroid carcinoma sample from a patient who also carries a germline mutation causing a splicing defect. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15613436;Dbxref=PMID:15613436 Q6P1J9 UniProtKB Natural variant 34 34 . . . ID=VAR_064929;Note=Found in a clear cell renal carcinoma sample%3B somatic mutation%3B unlike wild-type protein the mutant is defective in suppressing CCND1 expression in vivo. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17130827;Dbxref=PMID:17130827 Q6P1J9 UniProtKB Natural variant 59 59 . . . ID=VAR_064930;Note=Found in a parathyroid carcinoma sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17555500;Dbxref=PMID:17555500 Q6P1J9 UniProtKB Natural variant 63 63 . . . ID=VAR_064931;Note=In HRPT1%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18755853;Dbxref=dbSNP:rs1060500015,PMID:18755853 Q6P1J9 UniProtKB Natural variant 64 64 . . . ID=VAR_024082;Note=In HRPT1%3B does not affect interaction with the Pfa1 complex. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12434154,ECO:0000269|PubMed:12960210,ECO:0000269|PubMed:15632063;Dbxref=dbSNP:rs121434264,PMID:12434154,PMID:12960210,PMID:15632063 Q6P1J9 UniProtKB Natural variant 91 91 . . . ID=VAR_064932;Note=Found in a patient with isolated hyperparathyroidism and parathyroid adenomas. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17639062;Dbxref=PMID:17639062 Q6P1J9 UniProtKB Natural variant 95 95 . . . ID=VAR_064933;Note=In HRPT1%3B uncertain significance%3B found as somatic mutation in a parathyroid adenoma sample from a patient who also carries a germline frameshift mutation. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16487440;Dbxref=PMID:16487440 Q6P1J9 UniProtKB Natural variant 272 272 . . . ID=VAR_064934;Note=Found in a parathyroid adenoma sample. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16728578;Dbxref=dbSNP:rs752383339,PMID:16728578 Q6P1J9 UniProtKB Natural variant 292 292 . . . ID=VAR_064935;Note=Found in a Wilms tumor sample%3B somatic mutation. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17130827;Dbxref=PMID:17130827 Q6P1J9 UniProtKB Natural variant 379 379 . . . ID=VAR_064936;Note=In HRPT2. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16487440;Dbxref=dbSNP:rs971586985,PMID:16487440 Q6P1J9 UniProtKB Natural variant 384 384 . . . ID=VAR_031825;Note=L->P;Dbxref=dbSNP:rs35590728 Q6P1J9 UniProtKB Sequence conflict 123 123 . . . Note=Q->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q6P1J9 UniProtKB Sequence conflict 184 187 . . . Note=AIKA->CNQT;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q6P1J9 UniProtKB Sequence conflict 372 372 . . . Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q6P1J9 UniProtKB Helix 4 14 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Beta strand 19 21 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Beta strand 24 27 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Beta strand 30 33 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Beta strand 37 41 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Beta strand 54 56 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Helix 57 65 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Turn 66 68 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Helix 71 81 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Helix 88 98 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5YDE Q6P1J9 UniProtKB Helix 219 227 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7OOP Q6P1J9 UniProtKB Helix 235 238 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7OOP Q6P1J9 UniProtKB Helix 247 259 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7OOP