##gff-version 3
O14678	UniProtKB	Chain	1	606	.	.	.	ID=PRO_0000093312;Note=Lysosomal cobalamin transporter ABCD4	
O14678	UniProtKB	Transmembrane	43	63	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Transmembrane	76	96	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Transmembrane	190	210	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Transmembrane	279	299	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Transmembrane	314	334	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Domain	39	332	.	.	.	Note=ABC transmembrane type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00441	
O14678	UniProtKB	Domain	389	603	.	.	.	Note=ABC transporter;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434	
O14678	UniProtKB	Binding site	421	428	.	.	.	Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00434	
O14678	UniProtKB	Natural variant	141	141	.	.	.	ID=VAR_084972;Note=In MAHCJ%3B does not affect ATPase activity. Loss of cobalamin transport activity. Decreases interaction with LMBD1. Does not affect lysosomal subcellular location. N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23141461,ECO:0000269|PubMed:28572511,ECO:0000269|PubMed:33845046;Dbxref=dbSNP:rs776529140,PMID:23141461,PMID:28572511,PMID:33845046	
O14678	UniProtKB	Natural variant	172	172	.	.	.	ID=VAR_048134;Note=V->I;Dbxref=dbSNP:rs34992370	
O14678	UniProtKB	Natural variant	304	304	.	.	.	ID=VAR_020778;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12111378,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4,ECO:0000269|Ref.8;Dbxref=dbSNP:rs4148077,PMID:12111378,PMID:15489334	
O14678	UniProtKB	Natural variant	319	319	.	.	.	ID=VAR_069097;Note=In MAHCJ%3B strong decrease of ATPase activity. Strong decrease of cobalamin transport activity. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22922874,ECO:0000269|PubMed:31467407,ECO:0000269|PubMed:33845046;Dbxref=dbSNP:rs201777056,PMID:22922874,PMID:31467407,PMID:33845046	
O14678	UniProtKB	Natural variant	350	350	.	.	.	ID=VAR_048135;Note=T->R;Dbxref=dbSNP:rs35073715	
O14678	UniProtKB	Natural variant	368	368	.	.	.	ID=VAR_020222;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12111378,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4,ECO:0000269|Ref.8;Dbxref=dbSNP:rs3742801,PMID:12111378,PMID:15489334	
O14678	UniProtKB	Natural variant	432	432	.	.	.	ID=VAR_084973;Note=In MAHCJ%3B decreases interaction with LMBD1. Does not affect lysosomal subcellular location. Decreases ATPase activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28572511,ECO:0000269|PubMed:31467407;Dbxref=dbSNP:rs745414252,PMID:28572511,PMID:31467407	
O14678	UniProtKB	Mutagenesis	141	141	.	.	.	Note=Does not affect ATPase nor cobalamin transport activities. N->A%2CD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33845046;Dbxref=PMID:33845046	
O14678	UniProtKB	Mutagenesis	319	319	.	.	.	Note=Decreases of ATPase activity. Decreases cobalamin transport activity. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33845046;Dbxref=PMID:33845046	
O14678	UniProtKB	Mutagenesis	319	319	.	.	.	Note=Does not affect ATPase activity. Does not affect cobalamin transport activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33845046;Dbxref=PMID:33845046	
O14678	UniProtKB	Mutagenesis	426	426	.	.	.	Note=Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28572511;Dbxref=PMID:28572511	
O14678	UniProtKB	Mutagenesis	427	427	.	.	.	Note=Loss of ATPase activity. Loss of cobalamin transport activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33845046;Dbxref=PMID:33845046	
O14678	UniProtKB	Mutagenesis	427	427	.	.	.	Note=Decreases interaction with LMBD1. Decreases colocalization with LMBD1. Decreases cobalamin transport activity. Reduces synthesis of adenosylcobalamin and methylcobalamin. K->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22922874,ECO:0000269|PubMed:28572511;Dbxref=PMID:22922874,PMID:28572511	
O14678	UniProtKB	Mutagenesis	548	548	.	.	.	Note=Decreases interaction with LMBD1. Reduces synthesis of adenosylcobalamin and methylcobalamin. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22922874,ECO:0000269|PubMed:28572511;Dbxref=PMID:22922874,PMID:28572511	
O14678	UniProtKB	Mutagenesis	549	549	.	.	.	Note=Decreases ATPase activity. Reduces synthesis of adenosylcobalamin and methylcobalamin. E->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22922874,ECO:0000269|PubMed:31467407;Dbxref=PMID:22922874,PMID:31467407	
O14678	UniProtKB	Sequence conflict	594	594	.	.	.	Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305	
O14678	UniProtKB	Sequence conflict	606	606	.	.	.	Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305