##gff-version 3 P09848 UniProtKB Signal peptide 1 19 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Propeptide 20 868 . . . ID=PRO_0000011767;Note=XBetaGly;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09849 P09848 UniProtKB Chain 869 1927 . . . ID=PRO_0000011768;Note=Lactase/phlorizin hydrolase;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P09849 P09848 UniProtKB Topological domain 20 1882 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Transmembrane 1883 1901 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Topological domain 1902 1927 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Region 44 286 . . . Note=Glycosyl hydrolase-1 1%3B Region I;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Region 362 855 . . . Note=Glycosyl hydrolase-1 2%3B Region II;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Region 902 1366 . . . Note=Glycosyl hydrolase-1 3%3B Region III. Phlorizin hydrolase/glycosylceramidase activity;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255,ECO:0000269|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Region 1220 1244 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P09848 UniProtKB Region 1373 1846 . . . Note=Glycosyl hydrolase-1 4%3B Region IV. Lactase activity;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255,ECO:0000269|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Region 1647 1927 . . . Note=Required for homodimerization and transport to the plasma membrane;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9593732;Dbxref=PMID:9593732 P09848 UniProtKB Active site 1065 1065 . . . Note=Proton donor%3B for phlorizin hydrolase/Glycosylceramidase activity;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Active site 1273 1273 . . . Note=Nucleophile%3B for phlorizin hydrolase/Glycosylceramidase activity;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU10055,ECO:0000305|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Active site 1538 1538 . . . Note=Proton donor%3B for lactase activity;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Active site 1749 1749 . . . Note=Nucleophile%3B for lactase activity;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU10055,ECO:0000305|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Glycosylation 42 42 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 368 368 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 418 418 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 512 512 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 821 821 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 934 934 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 946 946 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 989 989 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1174 1174 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1340 1340 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1508 1508 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1656 1656 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1672 1672 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1761 1761 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Glycosylation 1814 1814 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P09848 UniProtKB Natural variant 190 190 . . . ID=VAR_055882;Note=S->L;Dbxref=dbSNP:rs35156533 P09848 UniProtKB Natural variant 219 219 . . . ID=VAR_026705;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1902057;Dbxref=dbSNP:rs3754689,PMID:1902057 P09848 UniProtKB Natural variant 268 268 . . . ID=VAR_026706;Note=In COLACD. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16400612;Dbxref=dbSNP:rs121908937,PMID:16400612 P09848 UniProtKB Natural variant 362 362 . . . ID=VAR_026707;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1902057,ECO:0000269|PubMed:2460343;Dbxref=dbSNP:rs4954449,PMID:1902057,PMID:2460343 P09848 UniProtKB Natural variant 1363 1363 . . . ID=VAR_026708;Note=In COLACD. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16400612;Dbxref=dbSNP:rs386833833,PMID:16400612 P09848 UniProtKB Natural variant 1593 1593 . . . ID=VAR_055883;Note=V->M;Dbxref=dbSNP:rs35891837 P09848 UniProtKB Natural variant 1639 1639 . . . ID=VAR_026709;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1902057;Dbxref=dbSNP:rs2322659,PMID:1902057 P09848 UniProtKB Mutagenesis 1273 1273 . . . Note=No effect on lactase activity. Decreased phlorizin hydrolase activity. No effect on localization to the plasma membrane. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Mutagenesis 1749 1749 . . . Note=Loss of lactase activity. No effect on phlorizin hydrolase activity. No effect on localization to the plasma membrane. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9762914;Dbxref=PMID:9762914 P09848 UniProtKB Sequence conflict 1096 1096 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305