| Gene Information | |
|---|---|
| Gene Name | UMAT |
| Organism | Homo sapiens (Human) |
| Gene Length | 842 |
| Protein Names | ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9NP58 |
| Gene Card | ABCB6 |
| Uniprot ID | Q9NP58 |
| Pfam | PF00664; PF00005; PF16185 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed. High expression is detected in the retinal epithelium (PubMed:10837493, PubMed:22226084). Expressed in mature erythrocytes (PubMed:22655043). {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:22226084, ECO:0000269|PubMed:22655043}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3NH6 (X-ray 2.00A ) 3NH9 (X-ray 2.10A ) 3NHA (X-ray 2.10A ) 3NHB (X-ray 2.15A ) 7D7N (EM 5.20A ) 7D7R (EM 4.00A ) 7DNY (EM 3.40A ) 7DNZ (EM 3.60A ) 7EKL (EM 3.50A ) 7EKM (EM 3.60A ) |
| DBSNP | rs387906911 rs397514757 rs150221689 rs57467915 rs13018440 rs1574815954 rs60322991 rs397514756 rs754667801 rs764893806 rs147445258 rs149363094 rs796065353 rs397514758 rs145526996 rs13402964 rs142421126 rs148211042 rs387906910 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:17661442, ECO:0000269|PubMed:22246506, ECO:0000269|PubMed:22655043, ECO:0000269|PubMed:23180570, ECO:0000269|PubMed:27507172}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion outer membrane {ECO:0000269|PubMed:17006453, ECO:0000269|PubMed:17661442}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:21199866, ECO:0000269|PubMed:22226084}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:21199866, ECO:0000269|PubMed:22226084}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:25627919}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:22655043, ECO:0000269|PubMed:25627919, ECO:0000269|PubMed:29940187, ECO:0000269|PubMed:31053883}. Late endosome membrane {ECO:0000250|UniProtKB:O70595}. Early endosome membrane {ECO:0000250|UniProtKB:O70595}. Secreted, extracellular exosome {ECO:0000269|PubMed:22655043}. Mitochondrion {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:23792964}. Endosome, multivesicular body membrane {ECO:0000269|PubMed:25627919}. Melanosome membrane {ECO:0000269|PubMed:29940187}. Note=Present in the membrane of mature erythrocytes and in exosomes released from reticulocytes during the final steps of erythroid maturation (PubMed:22655043). Traffics from endoplasmic reticulum to Golgi during its glycans's maturation, therefrom is first targeted to the plasma membrane, and is rapidly internalized through endocytosis to be distributed to the limiting membrane of multivesicular bodies and lysosomes (PubMed:25627919, PubMed:21199866, PubMed:18279659). Localized on the limiting membrane of early melanosomes of pigment cells (PubMed:29940187). Targeted to the endolysosomal compartment (By similarity). {ECO:0000250|UniProtKB:O70595, ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:21199866, ECO:0000269|PubMed:22655043, ECO:0000269|PubMed:25627919, ECO:0000269|PubMed:29940187}. |
| Mouse PG classification | NA |
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