| Gene Information | |
|---|---|
| Gene Name | EPB3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 911 |
| Protein Names | Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P02730 |
| Gene Card | SLC4A1 |
| Uniprot ID | P02730 |
| Pfam | PF07565; PF00955 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in erythrocytes (at protein level). {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:2204832, ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:26542571, ECO:0000269|PubMed:7506871}.; [Isoform 2]: Expressed in kidney (at protein level). {ECO:0000269|PubMed:7506871}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1BH7 (NMR - ) 1BNX (NMR - ) 1BTQ (NMR - ) 1BTR (NMR - ) 1BTS (NMR - ) 1BTT (NMR - ) 1BZK (NMR - ) 1HYN (X-ray 2.60A ) 2BTA (NMR - ) 2BTB (NMR - ) 3BTB (NMR - ) 4KY9 (X-ray 2.23A ) 4YZF (X-ray 3.50A ) 7TVZ (EM 3.60A ) 7TW0 (EM 4.60A ) 7TW1 (EM 4.60A ) 7TW2 (EM 4.80A ) 7TW3 (EM 4.40A ) 7TW5 (EM 5.70A ) 7TW6 (EM 5.60A ) 7UZ3 (EM 2.35A ) 7UZU (EM 2.30A ) 7UZV (EM 2.50A ) 7V07 (EM 2.80A ) 7V0K (EM 2.40A ) 7V0M (EM 2.70A ) 7V0T (EM 2.70A ) 7V0U (EM 3.00A ) 7V0Y (EM 3.00A ) 7V19 (EM 3.30A ) 8CRQ (EM 3.20A ) 8CRR (EM 3.00A ) 8CRT (EM 3.00A ) 8CS9 (EM 2.74A ) 8CSL (EM 25.00A ) 8CSV (EM 2.70A ) 8CSY (EM 2.70A ) 8CT3 (EM 3.30A ) 8CTE (EM 2.90A ) |
| DBSNP | rs5035 rs45562031 rs34700496 rs5036 rs13306787 rs13306788 rs781490287 rs28929480 rs5037 rs121912749 rs28931583 rs1048804130 rs373768879 rs5018 rs121912756 rs28931584 rs1398477044 rs1598299485 rs45568837 rs868742796 rs879202054 rs121912743 rs551784583 rs1393742050 rs5019 rs121912745 rs121912744 rs121912745 rs121912754 rs878853002 rs121912746 rs121912757 rs121912758 rs372514760 rs758868427 rs75731670 rs863225463 rs5022 rs5023 rs121912748 rs863225461 rs863225462 rs121912755 rs373916826 rs121912741 rs121912753 rs1167814744 rs866727908 rs5025 rs121912750 rs121912752 rs2285644 rs121912751 rs5026 rs121912759 rs28931585 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:24121512, ECO:0000269|PubMed:26542571, ECO:0000269|PubMed:7506871}; Multi-pass membrane protein {ECO:0000269|PubMed:26542571}. Basolateral cell membrane {ECO:0000269|PubMed:7506871}; Multi-pass membrane protein {ECO:0000269|PubMed:7506871}. Note=Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha-intercalated cells in the collecting duct in the kidney. {ECO:0000269|PubMed:7506871}. |
| Mouse PG classification | NA |
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