##gff-version 3 P78381 UniProtKB Chain 1 396 . . . ID=PRO_0000213353;Note=UDP-galactose translocator P78381 UniProtKB Transmembrane 3 23 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 37 57 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 65 85 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 97 117 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 140 160 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 169 189 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 200 220 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 238 258 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 269 289 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Transmembrane 315 335 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P78381 UniProtKB Region 358 379 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P78381 UniProtKB Motif 392 396 . . . Note=ER retention motif;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15932921;Dbxref=PMID:15932921 P78381 UniProtKB Alternative sequence 30 30 . . . ID=VSP_054335;Note=In isoform 4. A->AELLLTWEEAEARGQGLPQPLPDTSVRIP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P78381 UniProtKB Alternative sequence 31 91 . . . ID=VSP_055197;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P78381 UniProtKB Alternative sequence 143 396 . . . ID=VSP_042029;Note=In isoform 3. VTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS->PSPRCSQSHSLCLCLRLRALRSPAASRAATTTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 P78381 UniProtKB Alternative sequence 389 396 . . . ID=VSP_003728;Note=In isoform 2%2C isoform 4 and isoform 5. LLTKVKGS->SVLVK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9010752;Dbxref=PMID:14702039,PMID:9010752 P78381 UniProtKB Natural variant 55 55 . . . ID=VAR_086839;Note=Found in a patient with infantile spasms and cortical abnormalities%3B uncertain significance%3B somatic mutation%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. R->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:29679388,ECO:0000269|PubMed:30834435;Dbxref=PMID:29679388,PMID:30834435 P78381 UniProtKB Natural variant 55 55 . . . ID=VAR_087467;Note=In CDG2M. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 56 396 . . . ID=VAR_087468;Note=In CDG2M. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 65 68 . . . ID=VAR_087469;Note=In CDG2M. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 71 71 . . . ID=VAR_087470;Note=In CDG2M%3B reduced UDP-galactose transport in patient fibroblasts%3B no effect on localization to Golgi apparatus. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 82 82 . . . ID=VAR_087471;Note=In CDG2M%3B reduced UDP-galactose transport in patient fibroblasts%3B no effect on localization to Golgi apparatus. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=dbSNP:rs1557043622,PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 101 101 . . . ID=VAR_087472;Note=In CDG2M. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 116 116 . . . ID=VAR_087473;Note=In CDG2M. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=dbSNP:rs1557043133,PMID:30817854 P78381 UniProtKB Natural variant 118 118 . . . ID=VAR_087474;Note=In CDG2M. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 130 130 . . . ID=VAR_087475;Note=In CDG2M%3B loss of UDP-galactose transport in patient fibroblasts%3B no effect on localization to Golgi apparatus. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 168 396 . . . ID=VAR_087476;Note=In CDG2M%3B reduced UDP-galactose transport in patient fibroblasts. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 175 175 . . . ID=VAR_087477;Note=In CDG2M%3B no effect on localization to Golgi apparatus. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=dbSNP:rs1283637638,PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 175 175 . . . ID=VAR_087478;Note=In CDG2M. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=dbSNP:rs1602338996,PMID:30817854 P78381 UniProtKB Natural variant 183 396 . . . ID=VAR_087479;Note=In CDG2M. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 188 188 . . . ID=VAR_087480;Note=In CDG2M%3B uncertain significance. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=dbSNP:rs1023107993,PMID:30817854 P78381 UniProtKB Natural variant 213 213 . . . ID=VAR_071699;Note=In CDG2M%3B has no effect on localization to Golgi%3B partially rescues defective Gb3Cer expression in SLC35A2-deficient cells. S->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24115232,ECO:0000269|PubMed:30834435;Dbxref=dbSNP:rs587777436,PMID:24115232,PMID:30834435 P78381 UniProtKB Natural variant 233 233 . . . ID=VAR_087481;Note=In CDG2M%3B reduced UDP-galactose transport in patient fibroblasts%3B no effect on localization to Golgi apparatus. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 252 252 . . . ID=VAR_036579;Note=In a breast cancer sample%3B somatic mutation. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 P78381 UniProtKB Natural variant 258 258 . . . ID=VAR_079035;Note=Found in a patient with Rett syndrome-like phenotype%3B uncertain significance%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26740508,ECO:0000269|PubMed:30834435;Dbxref=dbSNP:rs1557042828,PMID:26740508,PMID:30834435 P78381 UniProtKB Natural variant 266 266 . . . ID=VAR_086840;Note=In CDG2M%3B fails to rescue defective galactosylation in SLC35A2-deficient cells%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25778940,ECO:0000269|PubMed:30834435;Dbxref=PMID:25778940,PMID:30834435 P78381 UniProtKB Natural variant 267 267 . . . ID=VAR_086841;Note=Found in a patient with cerebral visual impairment%3B uncertain significance%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26350515,ECO:0000269|PubMed:30834435;Dbxref=dbSNP:rs869312860,PMID:26350515,PMID:30834435 P78381 UniProtKB Natural variant 272 396 . . . ID=VAR_087482;Note=In CDG2M. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 273 273 . . . ID=VAR_087483;Note=In CDG2M%3B no effect on localization to Golgi apparatus. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=dbSNP:rs1557042798,PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 282 282 . . . ID=VAR_086842;Note=Found in a patient with West syndrome%3B uncertain significance%3B does not rescue defective Gb3Cer expression in SLC35A2-deficient cells. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25877686,ECO:0000269|PubMed:30834435;Dbxref=dbSNP:rs2063478987,PMID:25877686,PMID:30834435 P78381 UniProtKB Natural variant 303 303 . . . ID=VAR_087484;Note=In CDG2M. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 304 304 . . . ID=VAR_086843;Note=Found in a patient with non-lesional focal epilepsy%3B uncertain significance%3B somatic mutation%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:29679388,ECO:0000269|PubMed:30834435;Dbxref=PMID:29679388,PMID:30834435 P78381 UniProtKB Natural variant 312 312 . . . ID=VAR_087485;Note=In CDG2M. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30817854;Dbxref=PMID:30817854 P78381 UniProtKB Natural variant 315 315 . . . ID=VAR_087486;Note=In CDG2M%3B reduced UDP-galactose transport in patient fibroblasts%3B no effect on localization to Golgi apparatus. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:34384782;Dbxref=dbSNP:rs1131691973,PMID:30817854,PMID:34384782 P78381 UniProtKB Natural variant 331 331 . . . ID=VAR_069773;Note=In CDG2M%3B in patient fibroblasts%2C results in reduced UDP-galactose transport into the Golgi%3B able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23561849,ECO:0000269|PubMed:30817854,ECO:0000269|PubMed:30834435;Dbxref=dbSNP:rs587776961,PMID:23561849,PMID:30817854,PMID:30834435 P78381 UniProtKB Mutagenesis 65 65 . . . Note=No effect on localization to Golgi apparatus. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 75 75 . . . Note=Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 78 78 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30834435;Dbxref=PMID:30834435 P78381 UniProtKB Mutagenesis 125 125 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport%3B when associated with A-126%2C A-129 and A-278. No effect on localization to Golgi apparatus. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 126 126 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport%3B when associated with A-125%2C A-129 and A-278. No effect on localization to Golgi apparatus. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 129 129 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport%3B when associated with A-125%2C A-126 and A-278. No effect on localization to Golgi apparatus. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 141 141 . . . Note=No effect on localization to Golgi apparatus. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 142 142 . . . Note=No effect on localization to Golgi apparatus. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 145 145 . . . Note=No effect on localization to Golgi apparatus. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 146 146 . . . Note=No effect on localization to Golgi apparatus. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 148 148 . . . Note=Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 152 152 . . . Note=No effect on localization to Golgi apparatus. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 152 152 . . . Note=Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus. T->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 202 202 . . . Note=Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. G->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30834435;Dbxref=PMID:30834435 P78381 UniProtKB Mutagenesis 213 213 . . . Note=No effect on localization to Golgi apparatus. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 214 214 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. G->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30834435;Dbxref=PMID:30834435 P78381 UniProtKB Mutagenesis 235 235 . . . Note=No effect on localization to Golgi apparatus. N->A%2CQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 239 239 . . . Note=No effect on localization to Golgi apparatus. G->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 277 277 . . . Note=No effect on localization to Golgi apparatus. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 278 278 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport%3B when associated with A-125%2C A-126 and A-129. No effect on localization to Golgi apparatus. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 285 285 . . . Note=No effect on localization to Golgi apparatus. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 294 294 . . . Note=No effect on localization to Golgi apparatus. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 297 297 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30834435;Dbxref=PMID:30834435 P78381 UniProtKB Mutagenesis 297 297 . . . Note=Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. No effect on localization to Golgi apparatus. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 301 301 . . . Note=No effect on localization to Golgi apparatus. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Mutagenesis 308 308 . . . Note=No effect on localization to Golgi apparatus. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34384782;Dbxref=PMID:34384782 P78381 UniProtKB Sequence conflict 85 85 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P78381 UniProtKB Sequence conflict 110 110 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305