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Details on Person UniProt:Q9Y6R1-3 SLC4A4
| Class:Id | ReferenceIsoform:247290 |
|---|---|
| _chainChangeLog | chain:1-1079 added on Fri February 6 2015 |
| _displayName | UniProt:Q9Y6R1-3 SLC4A4 |
| _timestamp | 2026-02-20 21:53:46 |
| chain | chain:1-1079 |
| checksum | 14B981A94DD64293 |
| comment | FUNCTION Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.CATALYTIC ACTIVITY 2 hydrogencarbonate(out) + Na(+)(out) = 2 hydrogencarbonate(in) + Na(+)(in)CATALYTIC ACTIVITY 3 hydrogencarbonate(out) + Na(+)(out) = 3 hydrogencarbonate(in) + Na(+)(in)CATALYTIC ACTIVITY 2 hydrogencarbonate(out) + Na(+)(out) = 2 hydrogencarbonate(in) + Na(+)(in)CATALYTIC ACTIVITY 3 hydrogencarbonate(out) + Na(+)(out) = 3 hydrogencarbonate(in) + Na(+)(in)SUBUNIT Homodimer (PubMed:29500354). Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter activity (PubMed:12411514, PubMed:14567693, PubMed:15218065, PubMed:15563508). Isoform 1 but not isoform 2 interacts with AHCYL1 (via PEST domain when phosphorylated); the interaction increases SLC4A4 isoform 1 activity (PubMed:16769890). Interacts with AHCYL2 (By similarity).SUBCELLULAR LOCATION Expressed in the corneal endothelium cells (at protein level). Expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal cord.TISSUE SPECIFICITY Specifically expressed in kidney at the level of proximal tubules.PTM Phosphorylation of Ser-1026 by PKA increases the binding of CA2 and changes the Na(+):HCO3(-) stoichiometry of the transporter from 3:1 to 2:1 (PubMed:11744745, PubMed:12411514, PubMed:12730338). Phosphorylated in presence of STK39 and dephosphorylated in presence of PP1 phosphatase; phosphorylation seems to inhibit SLC4A4 activity (By similarity).PTM N-glycosylated. May not be necessary for the transporter basic functions.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).SIMILARITY Belongs to the anion exchanger (TC 2.A.31) family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Electrogenic sodium bicarbonate cotransporter 1 shortName: Sodium bicarbonate cotransporter alternativeName: Na(+)/HCO3(-) cotransporter alternativeName: Solute carrier family 4 member 4 alternativeName: kNBC1 |
| geneName | SLC4A4 NBC NBC1 NBCE1 |
| identifier | Q9Y6R1 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell membrane Disease variant Glycoprotein Ion transport Membrane Phosphoprotein Proteomics identification Reference proteome Retinitis pigmentosa Sodium Sodium transport Symport Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | SLC4A4 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8996249] ENSEMBL:ENSG00000080493 SLC4A4 [Homo sapiens] |
| secondaryIdentifier | S4A4_HUMAN C4B714 O15153 Q8NEJ2 Q9H262 Q9NRZ1 Q9UIC0 Q9UIC1 Q9UP50 |
| sequenceLength | 1079 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q9Y6R1-3 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9Y6R1-3 SLC4A4 (247290)
