##gff-version 3 O60880 UniProtKB Chain 1 128 . . . ID=PRO_0000097722;Note=SH2 domain-containing protein 1A O60880 UniProtKB Domain 6 104 . . . Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 O60880 UniProtKB Region 67 92 . . . Note=Interaction with FYN SH3 domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88890 O60880 UniProtKB Region 106 128 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O60880 UniProtKB Modified residue 89 89 . . . Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 O60880 UniProtKB Alternative sequence 40 128 . . . ID=VSP_004388;Note=In isoform E. VYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP->ITVTFIHTECPRQKQVLGVLSISEARSRHCNTSAVSS;Ontology_term=ECO:0000305;evidence=ECO:0000305 O60880 UniProtKB Alternative sequence 47 128 . . . ID=VSP_004387;Note=In isoform C. YHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP->QHLGYIKDISGK;Ontology_term=ECO:0000305;evidence=ECO:0000305 O60880 UniProtKB Alternative sequence 47 128 . . . ID=VSP_004389;Note=In isoform F. YHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP->ISEARSRHCNTSAVSS;Ontology_term=ECO:0000305;evidence=ECO:0000305 O60880 UniProtKB Alternative sequence 68 128 . . . ID=VSP_004386;Note=In isoform B. TAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP->HFRSQIKA;Ontology_term=ECO:0000305;evidence=ECO:0000305 O60880 UniProtKB Alternative sequence 114 116 . . . ID=VSP_004390;Note=In isoform D. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O60880 UniProtKB Natural variant 7 7 . . . ID=VAR_048005;Note=In XLP1%3B reduced protein stability and reduced affinity for SLAMF1%2C decreases interaction with FYN. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424,ECO:0000269|PubMed:12458214;Dbxref=dbSNP:rs1569527111,PMID:11049992,PMID:11477068,PMID:11823424,PMID:12458214 O60880 UniProtKB Natural variant 8 8 . . . ID=VAR_048006;Note=In XLP1. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11493483;Dbxref=PMID:11493483 O60880 UniProtKB Natural variant 16 16 . . . ID=VAR_048007;Note=In XLP1%3B abolishes interaction with SLAMF1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15841490;Dbxref=PMID:15841490 O60880 UniProtKB Natural variant 22 22 . . . ID=VAR_088139;Note=In XLP1%3B uncertain significance. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 27 27 . . . ID=VAR_048008;Note=In XLP1. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11493483;Dbxref=PMID:11493483 O60880 UniProtKB Natural variant 28 28 . . . ID=VAR_048009;Note=In XLP1%3B reduced protein stability. S->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424;Dbxref=PMID:11049992,PMID:11477068,PMID:11823424 O60880 UniProtKB Natural variant 31 31 . . . ID=VAR_048010;Note=In XLP1%3B reduced protein stability and reduced affinity for SLAMF1 and FYN. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:14674764;Dbxref=PMID:11049992,PMID:14674764 O60880 UniProtKB Natural variant 32 32 . . . ID=VAR_005612;Note=In XLP1. R->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10598819,ECO:0000269|PubMed:9771704;Dbxref=dbSNP:rs111033624,PMID:10598819,PMID:9771704 O60880 UniProtKB Natural variant 33 33 . . . ID=VAR_048011;Note=In XLP1. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11493483;Dbxref=PMID:11493483 O60880 UniProtKB Natural variant 42 42 . . . ID=VAR_048012;Note=In XLP1%3B loss of interaction with CD84 and reduced affinity for SLAMF1. C->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068;Dbxref=PMID:11049992,PMID:11477068 O60880 UniProtKB Natural variant 42 42 . . . ID=VAR_088140;Note=In XLP1%3B uncertain significance. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 49 49 . . . ID=VAR_048013;Note=In XLP1. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11493483;Dbxref=PMID:11493483 O60880 UniProtKB Natural variant 53 53 . . . ID=VAR_048014;Note=In XLP1%3B loss of interaction with CD84%3B loss of interaction with non-phosphorylated SLAMF1. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424;Dbxref=PMID:11049992,PMID:11477068,PMID:11823424 O60880 UniProtKB Natural variant 54 54 . . . ID=VAR_048015;Note=In XLP1%3B reduced protein stability and reduced affinity for SLAMF1 and FYN. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:14674764,ECO:0000269|PubMed:16720617;Dbxref=PMID:11049992,PMID:14674764,PMID:16720617 O60880 UniProtKB Natural variant 55 128 . . . ID=VAR_088141;Note=In XLP1%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 55 55 . . . ID=VAR_018307;Note=In XLP1%3B reduced affinity for SLAMF1 and FYN. R->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11034354,ECO:0000269|PubMed:14674764;Dbxref=dbSNP:rs111033630,PMID:11034354,PMID:14674764 O60880 UniProtKB Natural variant 55 55 . . . ID=VAR_088142;Note=In XLP1%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 57 57 . . . ID=VAR_048016;Note=In one XLP1 patient%3B uncertain significance. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14583885;Dbxref=PMID:14583885 O60880 UniProtKB Natural variant 67 67 . . . ID=VAR_088143;Note=In XLP1%3B uncertain significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 68 68 . . . ID=VAR_005613;Note=In XLP1%3B loss of interaction with CD84%3B strongly reduced affinity for SLAMF1. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424,ECO:0000269|PubMed:9771704;Dbxref=dbSNP:rs111033627,PMID:11477068,PMID:11823424,PMID:9771704 O60880 UniProtKB Natural variant 84 84 . . . ID=VAR_048017;Note=In XLP1%3B reduced protein stability. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16720617;Dbxref=PMID:16720617 O60880 UniProtKB Natural variant 87 87 . . . ID=VAR_048018;Note=In XLP1%3B reduced protein stability and reduced affinity for SLAMF1 and FYN. F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:14674764,ECO:0000269|PubMed:16720617;Dbxref=PMID:11049992,PMID:14674764,PMID:16720617 O60880 UniProtKB Natural variant 96 128 . . . ID=VAR_088144;Note=In XLP1%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21119115;Dbxref=PMID:21119115 O60880 UniProtKB Natural variant 99 99 . . . ID=VAR_048019;Note=In XLP1%3B reduced protein stability and strongly reduced affinity for SLAMF1%2C disrupts interaction with FYN. Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424,ECO:0000269|PubMed:12458214;Dbxref=PMID:11049992,PMID:11477068,PMID:11823424,PMID:12458214 O60880 UniProtKB Natural variant 101 101 . . . ID=VAR_005614;Note=In XLP1%3B reduced protein stability and reduced affinity for SLAMF1%2C decreases interaction with FYN. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11282995,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424,ECO:0000269|PubMed:9771704;Dbxref=dbSNP:rs111033626,PMID:11282995,PMID:11477068,PMID:11823424,PMID:9771704 O60880 UniProtKB Natural variant 102 102 . . . ID=VAR_048020;Note=In XLP1%3B reduced protein stability and strongly reduced affinity for SLAMF1%2C decreases interaction with FYN. V->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11049992,ECO:0000269|PubMed:11477068,ECO:0000269|PubMed:11823424,ECO:0000269|PubMed:12458214;Dbxref=PMID:11049992,PMID:11477068,PMID:11823424,PMID:12458214 O60880 UniProtKB Mutagenesis 32 32 . . . Note=Strongly reduced affinity for SLAMF1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11823424;Dbxref=PMID:11823424 O60880 UniProtKB Mutagenesis 78 78 . . . Note=Disrupts interaction with FYN. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12545174;Dbxref=PMID:12545174 O60880 UniProtKB Beta strand 5 7 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1KA6 O60880 UniProtKB Helix 13 23 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 28 33 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 35 37 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 41 47 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 50 58 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 64 66 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 77 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Helix 80 87 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T O60880 UniProtKB Beta strand 89 96 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1D4T