Details for: SLC4A4

Gene ID: 8671

Symbol: SLC4A4

Ensembl ID: ENSG00000080493

Description: solute carrier family 4 member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 203.5421
    Cell Significance Index: -31.6600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 125.4517
    Cell Significance Index: -31.8200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 70.6080
    Cell Significance Index: -28.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 51.7586
    Cell Significance Index: 7523.7200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 30.1966
    Cell Significance Index: -28.8300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.7106
    Cell Significance Index: -31.7000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.3663
    Cell Significance Index: -33.1300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 11.1243
    Cell Significance Index: 237.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.0511
    Cell Significance Index: -31.7700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 7.7009
    Cell Significance Index: 107.6900
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 5.5108
    Cell Significance Index: 34.0000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 5.2170
    Cell Significance Index: 230.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.8987
    Cell Significance Index: 185.5000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.3601
    Cell Significance Index: 49.6000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.9112
    Cell Significance Index: 63.0700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.7364
    Cell Significance Index: 124.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.1427
    Cell Significance Index: 164.4300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.8287
    Cell Significance Index: 122.9700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6092
    Cell Significance Index: 175.0300
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.4404
    Cell Significance Index: 5.4300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.3962
    Cell Significance Index: 21.0400
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.3327
    Cell Significance Index: 20.2800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.2561
    Cell Significance Index: 31.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.1700
    Cell Significance Index: 33.7100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.0871
    Cell Significance Index: 9.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0068
    Cell Significance Index: 201.9700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0032
    Cell Significance Index: 163.1700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9760
    Cell Significance Index: 881.2800
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.9449
    Cell Significance Index: 10.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9438
    Cell Significance Index: 338.5200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.9396
    Cell Significance Index: 15.8300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.9295
    Cell Significance Index: 11.5900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9198
    Cell Significance Index: 63.6100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8256
    Cell Significance Index: 571.0300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.8068
    Cell Significance Index: 19.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8050
    Cell Significance Index: 49.4800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.7721
    Cell Significance Index: 13.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6744
    Cell Significance Index: 66.7100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.5736
    Cell Significance Index: 9.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5055
    Cell Significance Index: 64.8000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4872
    Cell Significance Index: 917.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4803
    Cell Significance Index: 86.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3814
    Cell Significance Index: 72.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3798
    Cell Significance Index: 21.3100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2834
    Cell Significance Index: 34.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2484
    Cell Significance Index: 49.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2481
    Cell Significance Index: 157.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1880
    Cell Significance Index: 3.9000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1861
    Cell Significance Index: 6.5400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.1612
    Cell Significance Index: 2.0400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.1561
    Cell Significance Index: 1.6200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1172
    Cell Significance Index: 1.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1127
    Cell Significance Index: 2.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1030
    Cell Significance Index: 17.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0990
    Cell Significance Index: 44.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0594
    Cell Significance Index: 1.2700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0485
    Cell Significance Index: 0.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0451
    Cell Significance Index: 2.7100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0240
    Cell Significance Index: 36.9300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0096
    Cell Significance Index: 13.0500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0028
    Cell Significance Index: 0.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0049
    Cell Significance Index: -8.9800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0071
    Cell Significance Index: -4.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0082
    Cell Significance Index: -6.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0107
    Cell Significance Index: -7.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0151
    Cell Significance Index: -11.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0324
    Cell Significance Index: -18.2500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0403
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0433
    Cell Significance Index: -9.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0504
    Cell Significance Index: -27.5000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0695
    Cell Significance Index: -0.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0777
    Cell Significance Index: -34.3400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0807
    Cell Significance Index: -9.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1000
    Cell Significance Index: -10.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1010
    Cell Significance Index: -29.0600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1585
    Cell Significance Index: -2.2700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1625
    Cell Significance Index: -16.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1651
    Cell Significance Index: -19.2400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1760
    Cell Significance Index: -20.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2136
    Cell Significance Index: -5.9700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2283
    Cell Significance Index: -31.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2470
    Cell Significance Index: -31.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3047
    Cell Significance Index: -24.1300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3077
    Cell Significance Index: -7.9100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3676
    Cell Significance Index: -22.5400
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.3689
    Cell Significance Index: -2.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4092
    Cell Significance Index: -30.5000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4154
    Cell Significance Index: -13.2300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.4243
    Cell Significance Index: -4.4200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.4257
    Cell Significance Index: -4.0500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4510
    Cell Significance Index: -23.4300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4954
    Cell Significance Index: -10.3400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5061
    Cell Significance Index: -10.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5130
    Cell Significance Index: -26.7200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.5224
    Cell Significance Index: -5.2700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5293
    Cell Significance Index: -34.1500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.5315
    Cell Significance Index: -6.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5319
    Cell Significance Index: -17.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5756
    Cell Significance Index: -30.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5933
    Cell Significance Index: -19.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key characteristics** The SLC4A4 gene is a transmembrane protein that belongs to the SLC4 family of transporters. It is composed of 12 transmembrane domains, with 6 N-terminal and 6 C-terminal domains. The gene is highly expressed in various tissues, including the retina, pancreas, brain, and kidneys. The SLC4A4 protein is a sodium-bicarbonate symporter, meaning it co-transport sodium ions and bicarbonate ions across the plasma membrane. This process is essential for maintaining acid-base balance in the body and regulating the pH of various bodily fluids. **Pathways and functions** The SLC4A4 gene is involved in several key pathways, including: 1. **Bicarbonate transport**: The SLC4A4 protein is responsible for the transport of bicarbonate ions across the plasma membrane, a process essential for maintaining acid-base balance in the body. 2. **Sodium ion transport**: The SLC4A4 protein co-transport sodium ions across the plasma membrane, which helps regulate the pH of various bodily fluids. 3. **Regulation of intracellular pH**: The SLC4A4 protein helps regulate intracellular pH by controlling the transport of bicarbonate ions and sodium ions. 4. **Regulation of membrane potential**: The SLC4A4 protein helps regulate membrane potential by controlling the transport of ions across the plasma membrane. **Clinical significance** Mutations in the SLC4A4 gene have been linked to a rare genetic disorder known as proximal renal tubular acidosis (prRTA). prRTA is characterized by impaired bicarbonate reabsorption in the kidneys, leading to metabolic acidosis and other complications. Other clinical manifestations of SLC4A4 mutations include: 1. **Ocular abnormalities**: SLC4A4 mutations have been linked to ocular abnormalities, including cataracts and glaucoma. 2. **Mental retardation**: SLC4A4 mutations have been linked to mental retardation and other neurodevelopmental disorders. 3. **Renal tubular acidosis**: SLC4A4 mutations cause impaired bicarbonate reabsorption in the kidneys, leading to metabolic acidosis and other complications. In conclusion, the SLC4A4 gene plays a critical role in maintaining acid-base balance in the body and regulating various physiological processes. Mutations in the SLC4A4 gene have been linked to a rare genetic disorder known as proximal renal tubular acidosis, which is characterized by impaired bicarbonate reabsorption in the kidneys and other complications. Further research is needed to fully understand the clinical significance of SLC4A4 mutations and to develop effective treatments for prRTA and other related disorders.

Genular Protein ID: 4236894769

Symbol: S4A4_HUMAN

Name: Electrogenic sodium bicarbonate cotransporter 1

UniProtKB Accession Codes:

Q9Y6R1 C4B714 O15153 Q8NEJ2 Q9H262 Q9NRZ1 Q9UIC0 Q9UIC1 Q9UP50

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChEBI 8 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 14 EMDB 1 Ensembl 6 ExpressionAtlas 1 GO 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 2 RefSeq 2 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9235899

Title: Cloning and functional expression of a human kidney Na+:HCO3-cotransporter.

PubMed ID: 9235899

DOI: 10.1074/jbc.272.31.19111

PubMed ID: 9651366

Title: Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter.

PubMed ID: 9651366

DOI: 10.1074/jbc.273.28.17689

PubMed ID: 10069984

Title: Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC).

PubMed ID: 10069984

DOI: 10.1152/ajpcell.1999.276.3.c576

PubMed ID: 12907161

Title: Identification and cloning of the Na/HCO3- cotransporter (NBC) in human corneal endothelium.

PubMed ID: 12907161

DOI: 10.1016/s0014-4835(03)00150-7

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11744745

Title: Phosphorylation of Ser(982) in the sodium bicarbonate cotransporter kNBC1 shifts the HCO(3)(-):Na(+) stoichiometry from 3:1 to 2:1 in murine proximal tubule cells.

PubMed ID: 11744745

DOI: 10.1111/j.1469-7793.2001.00659.x

PubMed ID: 11743927

Title: Expression of a sodium bicarbonate cotransporter in human parotid salivary glands.

PubMed ID: 11743927

DOI: 10.1016/s0003-9969(01)00098-x

PubMed ID: 12411514

Title: Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp(986), Asp(988) and kNBC1-carbonic anhydrase II binding.

PubMed ID: 12411514

DOI: 10.1113/jphysiol.2002.029777

PubMed ID: 12604466

Title: Role of glycosylation in the renal electrogenic Na+-HCO3-cotransporter (NBCe1).

PubMed ID: 12604466

DOI: 10.1152/ajprenal.00131.2002

PubMed ID: 14559244

Title: Localization of NBC-1 variants in human kidney and renal cell carcinoma.

PubMed ID: 14559244

DOI: 10.1016/j.bbrc.2003.09.147

PubMed ID: 12534288

Title: Identification of membrane topography of the electrogenic sodium bicarbonate cotransporter pNBC1 by in vitro transcription/translation.

PubMed ID: 12534288

DOI: 10.1021/bi026826q

PubMed ID: 14567693

Title: Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter.

PubMed ID: 14567693

DOI: 10.1021/bi0353124

PubMed ID: 12730338

Title: Phosphorylation-induced modulation of pNBC1 function: distinct roles for the amino- and carboxy-termini.

PubMed ID: 12730338

DOI: 10.1113/jphysiol.2003.042226

PubMed ID: 15329059

Title: Expression of Na+/HCO3- co-transporter proteins (NBCs) in rat and human skeletal muscle.

PubMed ID: 15329059

DOI: 10.1111/j.1365-201x.2004.01297.x

PubMed ID: 15273250

Title: Identification of a carboxyl-terminal motif essential for the targeting of Na+-HCO-3 cotransporter NBC1 to the basolateral membrane.

PubMed ID: 15273250

DOI: 10.1074/jbc.m405780200

PubMed ID: 15218065

Title: Molecular mechanism of kNBC1-carbonic anhydrase II interaction in proximal tubule cells.

PubMed ID: 15218065

DOI: 10.1113/jphysiol.2004.065110

PubMed ID: 15563508

Title: Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

PubMed ID: 15563508

DOI: 10.1093/hmg/ddi023

PubMed ID: 15817634

Title: Critical amino acid residues involved in the electrogenic sodium-bicarbonate cotransporter kNBC1-mediated transport.

PubMed ID: 15817634

DOI: 10.1113/jphysiol.2005.084988

PubMed ID: 16769890

Title: IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3-cotransporter 1 (pNBC1).

PubMed ID: 16769890

DOI: 10.1073/pnas.0602250103

PubMed ID: 23324180

Title: Substrate specificity of the electrogenic sodium/bicarbonate cotransporter NBCe1-A (SLC4A4, variant A) from humans and rabbits.

PubMed ID: 23324180

DOI: 10.1152/ajprenal.00612.2012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25568315

Title: Interplay between disulfide bonding and N-glycosylation defines SLC4 Na+-coupled transporter extracellular topography.

PubMed ID: 25568315

DOI: 10.1074/jbc.m114.619320

PubMed ID: 29500354

Title: CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1.

PubMed ID: 29500354

DOI: 10.1038/s41467-018-03271-3

PubMed ID: 10545938

Title: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

PubMed ID: 10545938

DOI: 10.1038/15440

PubMed ID: 15471865

Title: A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

PubMed ID: 15471865

DOI: 10.1074/jbc.m406591200

PubMed ID: 15713912

Title: Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.

PubMed ID: 15713912

DOI: 10.1152/ajprenal.00032.2005

PubMed ID: 15930088

Title: Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

PubMed ID: 15930088

DOI: 10.1681/asn.2004080667

PubMed ID: 16636648

Title: Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

PubMed ID: 16636648

PubMed ID: 17661077

Title: Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.

PubMed ID: 17661077

DOI: 10.1007/s00424-007-0319-y

PubMed ID: 23636456

Title: Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.

PubMed ID: 23636456

DOI: 10.1152/ajpcell.00044.2013

Sequence Information:

  • Length: 1079
  • Mass: 121461
  • Checksum: 14B981A94DD64293
  • Sequence:
    • MEDEAVLDRG ASFLKHVCDE EEVEGHHTIY IGVHVPKSYR RRRRHKRKTG HKEKKEKERI 
SENYSDKSDI ENADESSSSI LKPLISPAAE RIRFILGEED DSPAPPQLFT ELDELLAVDG 
QEMEWKETAR WIKFEEKVEQ GGERWSKPHV ATLSLHSLFE LRTCMEKGSI MLDREASSLP 
QLVEMIVDHQ IETGLLKPEL KDKVTYTLLR KHRHQTKKSN LRSLADIGKT VSSASRMFTN 
PDNGSPAMTH RNLTSSSLND ISDKPEKDQL KNKFMKKLPR DAEASNVLVG EVDFLDTPFI 
AFVRLQQAVM LGALTEVPVP TRFLFILLGP KGKAKSYHEI GRAIATLMSD EVFHDIAYKA 
KDRHDLIAGI DEFLDEVIVL PPGEWDPAIR IEPPKSLPSS DKRKNMYSGG ENVQMNGDTP 
HDGGHGGGGH GDCEELQRTG RFCGGLIKDI KRKAPFFASD FYDALNIQAL SAILFIYLAT 
VTNAITFGGL LGDATDNMQG VLESFLGTAV SGAIFCLFAG QPLTILSSTG PVLVFERLLF 
NFSKDNNFDY LEFRLWIGLW SAFLCLILVA TDASFLVQYF TRFTEEGFSS LISFIFIYDA 
FKKMIKLADY YPINSNFKVG YNTLFSCTCV PPDPANISIS NDTTLAPEYL PTMSSTDMYH 
NTTFDWAFLS KKECSKYGGN LVGNNCNFVP DITLMSFILF LGTYTSSMAL KKFKTSPYFP 
TTARKLISDF AIILSILIFC VIDALVGVDT PKLIVPSEFK PTSPNRGWFV PPFGENPWWV 
CLAAAIPALL VTILIFMDQQ ITAVIVNRKE HKLKKGAGYH LDLFWVAILM VICSLMALPW 
YVAATVISIA HIDSLKMETE TSAPGEQPKF LGVREQRVTG TLVFILTGLS VFMAPILKFI 
PMPVLYGVFL YMGVASLNGV QFMDRLKLLL MPLKHQPDFI YLRHVPLRRV HLFTFLQVLC 
LALLWILKST VAAIIFPVMI LALVAVRKGM DYLFSQHDLS FLDDVIPEKD KKKKEDEKKK 
KKKKGSLDSD NDDSDCPYSE KVPSIKIPMD IMEQQPFLSD SKPSDRERSP TFLERHTSC

Genular Protein ID: 600865158

Symbol: A5JJ20_HUMAN

Name: N/A

UniProtKB Accession Codes:

A5JJ20

Database IDs:

ARBA 17 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 6 Gene3D 1 InterPro 5 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 2 Pfam 4 PharmGKB 1 PhylomeDB 1 RefSeq 1 Rhea 2 RuleBase 1 SAM 1 SMR 1 SUPFAM 1 VEuPathDB 1

Sequence Information:

  • Length: 1094
  • Mass: 123181
  • Checksum: B02FF2193A5F95C9
  • Sequence:
    • MEDEAVLDRG ASFLKHVCDE EEVEGHHTIY IGVHVPKSYR RRRRHKRKTG HKEKKEKERI 
SENYSDKSDI ENADESSSSI LKPLISPAAE RIRFILGEED DSPAPPQLFT ELDELLAVDG 
QEMEWKETAR WIKFEEKVEQ GGERWSKPHV ATLSLHSLFE LRTCMEKGSI MLDREASSLP 
QLVEMIVDHQ IETGLLKPEL KDKVTYTLLR KHRHQTKKSN LRSLADIGKT VSSASRMFTN 
PDNGSPAMTH RNLTSSSLND ISDKPEKDQL KNKFMKKLPR DAEASNVLVG EVDFLDTPFI 
AFVRLQQAVM LGALTEVPVP TRFLFILLGP KGKAKSYHEI GRAIATLMSD EVFHDIAYKA 
KDRHDLIAGI DEFLDEVIVL PPGEWDPAIR IEPPKSLPSS DKRKNMYSGG ENVQMNGDTP 
HDGGHGGGGH GDCEELQRTG RFCGGLIKDI KRKAPFFASD FYDALNIQAL SAILFIYLAT 
VTNAITFGGL LGDATDNMQG VLESFLGTAV SGAIFCLFAG QPLTILSSTG PVLVFERLLF 
NFSKDNNFDY LEFRLWIGLW SAFLCLILVA TDASFLVQYF TRFTEEGFSS LISFIFIYDA 
FKKMIKLADY YPINSNFKVG YNTLFSCTCV PPDPANISIS NDTTLAPEYL PTMSSTDMYH 
NTTFDWAFLS KKECSKYGGN LVGNNCNFVP DITLMSFILF LGTYTSSMAL KKFKTSPYFP 
TTARKLISDF AIILSILIFC VIDALVGVDT PKLIVPSEFK PTSPNRGWFV PPFGENPWWV 
CLAAAIPALL VTILIFMDQQ ITAVIVNRKE HKLKKGAGYH LDLFWVAILM VICSLMALPW 
YVAATVISIA HIDSLKMETE TSAPGEQPKF LGVREQRVTG TLVFILTGLS VFMAPILKFI 
PMPVLYGVFL YMGVASLNGV QFMDRLKLLL MPLKHQPDFI YLRHVPLRRV HLFTFLQVLC 
LALLWILKST VAAIIFPVMI LALVAVRKGM DYLFSQHDLS FLDDVIPEKD KKKKEDEKKK 
KKKKGSLDSD NDDEKDHQHS LNATHHADKI PFLQSLGMPS PPRTPVKVVP QIRIELEPED 
NDYFWRSKGT ETTL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.