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Details on Person UniProt:Q9Y6R1 SLC4A4

Class:Id	ReferenceGeneProduct:247288
_chainChangeLog	chain:1-1079 added on Fri February 6 2015
_displayName	UniProt:Q9Y6R1 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
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
(isoformParent)	[ReferenceIsoform:247289] UniProt:Q9Y6R1-2 SLC4A4 [Homo sapiens] [ReferenceIsoform:247290] UniProt:Q9Y6R1-3 SLC4A4 [Homo sapiens] [ReferenceIsoform:247291] UniProt:Q9Y6R1-4 SLC4A4 [Homo sapiens] [ReferenceIsoform:416137] UniProt:Q9Y6R1-1 SLC4A4 [Homo sapiens] [ReferenceIsoform:8975753] UniProt:Q9Y6R1-5 SLC4A4 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:425545] SLC4A4 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656206] SLC4A4 A799V [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656208] SLC4A4 R298S [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656210] SLC4A4 R510H [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656211] SLC4A4 L522P [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656220] SLC4A4 T485S [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656234] SLC4A4 W516* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656235] SLC4A4 S427L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656238] SLC4A4 S982Nfs4 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656274] SLC4A4 Q29 [plasma membrane] [Homo sapiens]
(referenceSequence)	[ReplacedResidue:5656203] L-alanine 799 replaced with L-valine [ReplacedResidue:5656224] L-alanine 510 replaced with L-histidine [ReplacedResidue:5656229] L-serine 427 replaced with L-leucine [ReplacedResidue:5656241] L-leucine 522 replaced with L-proline [ReplacedResidue:5656243] L-threonine 485 replaced with L-serine [NonsenseMutation:5656247] Nonsense mutation at L-glutamine 29 [ReplacedResidue:5656249] L-arginine 298 replaced with L-serine [NonsenseMutation:5656254] Nonsense mutation at L-tryptophan 516 [FragmentReplacedModification:5656259] Replacement of residues 982 to 984
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No pathways have been reviewed or authored by UniProt:Q9Y6R1 SLC4A4 (247288)