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Aliases for SLC4A4 Gene

Aliases for SLC4A4 Gene

  • Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member 4 2 3
  • NBC1 3 4 6
  • Na(+)/HCO3(-) Cotransporter 3 4
  • SLC4A5 3 6
  • KNBC1 3 4
  • KNBC 3 6
  • Sodium Bicarbonate Cotransporter 1 (Sodium Bicarbonate Cotransporter, Kidney; Sodium Bicarbonate Cotransporter, Pancreas) 3
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4, Brain Type 3
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 4 2
  • Solute Carrier Family 4, Sodium Bicarbonate Cotransporter, Member 5 3
  • Electrogenic Sodium Bicarbonate Cotransporter 1 3
  • Sodium Bicarbonate Cotransporter 4
  • Solute Carrier Family 4 Member 4 4
  • NBCe1-A 3
  • HNBC1 3
  • HhNMC 3
  • NBCE1 4
  • NBC2 3
  • PNBC 3
  • NBC 4

External Ids for SLC4A4 Gene

Previous HGNC Symbols for SLC4A4 Gene

  • SLC4A5

Previous GeneCards Identifiers for SLC4A4 Gene

  • GC04P072017
  • GC04P072293
  • GC04P072453
  • GC04P072568
  • GC04P072418
  • GC04P067858

Summaries for SLC4A4 Gene

Entrez Gene Summary for SLC4A4 Gene

  • This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for SLC4A4 Gene

SLC4A4 (Solute Carrier Family 4 (Sodium Bicarbonate Cotransporter), Member 4) is a Protein Coding gene. Diseases associated with SLC4A4 include renal tubular acidosis, proximal, with ocular abnormalities and autosomal recessive proximal renal tubular acidosis. Among its related pathways are Glucose / Energy Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include inorganic anion exchanger activity and sodium:bicarbonate symporter activity. An important paralog of this gene is SLC4A8.

UniProtKB/Swiss-Prot for SLC4A4 Gene

  • 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.

Gene Wiki entry for SLC4A4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC4A4 Gene

Genomics for SLC4A4 Gene

Regulatory Elements for SLC4A4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC4A4 Gene

Start:
71,092,756 bp from pter
End:
71,572,087 bp from pter
Size:
479,332 bases
Orientation:
Plus strand

Genomic View for SLC4A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC4A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A4 Gene

Proteins for SLC4A4 Gene

  • Protein details for SLC4A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6R1-S4A4_HUMAN
    Recommended name:
    Electrogenic sodium bicarbonate cotransporter 1
    Protein Accession:
    Q9Y6R1
    Secondary Accessions:
    • C4B714
    • O15153
    • Q8NEJ2
    • Q9H262
    • Q9NRZ1
    • Q9UIC0
    • Q9UIC1
    • Q9UP50

    Protein attributes for SLC4A4 Gene

    Size:
    1079 amino acids
    Molecular mass:
    121461 Da
    Quaternary structure:
    • Interacts with CA2/carbonic anhydrase 2 and CA4/carbonic anhydrase 4 which may regulate transporter activity.

    Alternative splice isoforms for SLC4A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC4A4 Gene

Proteomics data for SLC4A4 Gene at MOPED

Post-translational modifications for SLC4A4 Gene

  • N-glycosylation is not necessary for the transporter basic functions.
  • 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. Phosphorylation of Thr-49 regulates isoform 1 conductance.
  • Glycosylation at Asn641 and Asn661
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC4A4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC4A4 (SLC4A4)

No data available for DME Specific Peptides for SLC4A4 Gene

Domains for SLC4A4 Gene

Suggested Antigen Peptide Sequences for SLC4A4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6R1

UniProtKB/Swiss-Prot:

S4A4_HUMAN :
  • Q9Y6R1
Family:
  • Belongs to the anion exchanger (TC 2.A.31) family.
genes like me logo Genes that share domains with SLC4A4: view

Function for SLC4A4 Gene

Molecular function for SLC4A4 Gene

GENATLAS Biochemistry: solute carrier family 4,sodium bicarbonate cotransporter member 4,expressed in the basolateral membrane of renal proximal tubule cells
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by stilbene derivatives and regulated by cyclic AMP
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005452 inorganic anion exchanger activity IEA --
GO:0005515 protein binding IPI 14567693
GO:0008509 anion transmembrane transporter activity --
GO:0008510 sodium:bicarbonate symporter activity IMP 17661077
genes like me logo Genes that share ontologies with SLC4A4: view
genes like me logo Genes that share phenotypes with SLC4A4: view

Animal Models for SLC4A4 Gene

MGI Knock Outs for SLC4A4:

Animal Model Products

CRISPR Products

miRNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC4A4 Gene

Localization for SLC4A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A4 Gene

Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC4A4 Gene COMPARTMENTS Subcellular localization image for SLC4A4 gene
Compartment Confidence
plasma membrane 5
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9235899
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0016323 basolateral plasma membrane IDA 17661077
genes like me logo Genes that share ontologies with SLC4A4: view

Pathways for SLC4A4 Gene

genes like me logo Genes that share pathways with SLC4A4: view

Gene Ontology (GO) - Biological Process for SLC4A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9235899
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IDA 16769890
GO:0006820 anion transport --
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with SLC4A4: view

Compounds for SLC4A4 Gene

(2) HMDB Compounds for SLC4A4 Gene

Compound Synonyms Cas Number PubMed IDs
Hydrogen carbonate
  • Bicarbonate
71-52-3
Sodium
  • Sodium
7440-23-5

(1) Drugbank Compounds for SLC4A4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Sodium bicarbonate
  • Bicarbonate of soda
144-55-8 transporter substrate

(15) Novoseek inferred chemical compound relationships for SLC4A4 Gene

Compound -log(P) Hits PubMed IDs
sodium bicarbonate 88.3 51
bicarbonate 86.1 71
ethoxzolamide 63.4 1
dids 56.3 1
chloride 40 5
genes like me logo Genes that share compounds with SLC4A4: view

Transcripts for SLC4A4 Gene

Unigene Clusters for SLC4A4 Gene

Solute carrier family 4, sodium bicarbonate cotransporter, member 4:
Representative Sequences:

CRISPR Products

miRNA Products

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SLC4A4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A4 Gene

No ASD Table

Relevant External Links for SLC4A4 Gene

GeneLoc Exon Structure for
SLC4A4
ECgene alternative splicing isoforms for
SLC4A4

Expression for SLC4A4 Gene

mRNA expression in normal human tissues for SLC4A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC4A4 Gene

This gene is overexpressed in Pancreas (11.3), Kidney - Cortex (4.2), and Brain - Nucleus accumbens (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC4A4 Gene

SOURCE GeneReport for Unigene cluster for SLC4A4 Gene Hs.5462

mRNA Expression by UniProt/SwissProt for SLC4A4 Gene

Q9Y6R1-S4A4_HUMAN
Tissue specificity: Isoform 1 is expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal chord. Corneal endothelium cells express only isoform 1 (at protein level). Isoform 2 is specifically expressed in kidney at the level of proximal tubules.
genes like me logo Genes that share expressions with SLC4A4: view

In Situ Assay Products

Orthologs for SLC4A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC4A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC4A4 35
  • 99.57 (n)
  • 99.81 (a)
SLC4A4 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC4A4 35
  • 92.83 (n)
  • 97.22 (a)
SLC4A4 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC4A4 35
  • 93.29 (n)
  • 97 (a)
SLC4A4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc4a4 35
  • 89.31 (n)
  • 97.13 (a)
Slc4a4 16
Slc4a4 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC4A4 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A4 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc4a4 35
  • 89.4 (n)
  • 96.76 (a)
chicken
(Gallus gallus)
Aves SLC4A4 35
  • 83.4 (n)
  • 92.49 (a)
SLC4A4 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC4A4 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc4a4 35
  • 79.49 (n)
  • 89.16 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.32 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2506 35
slc4a4a 35
  • 75.02 (n)
  • 83.52 (a)
slc4a4a 36
  • 81 (a)
OneToMany
slc4a4b 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ndae1 36
  • 41 (a)
OneToMany
Ndae1 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea abts-1 36
  • 39 (a)
OneToMany
F52B5.1 37
  • 46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR677C 35
  • 40.83 (n)
  • 29.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BOR1 35
  • 42.73 (n)
  • 29.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02123g 35
  • 43.21 (n)
  • 28.36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons BOR4 35
  • 44.59 (n)
  • 30.92 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01480 35
  • 42.06 (n)
  • 31.28 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC543.05c 35
  • 42.09 (n)
  • 30.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for SLC4A4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC4A4 Gene

ENSEMBL:
Gene Tree for SLC4A4 (if available)
TreeFam:
Gene Tree for SLC4A4 (if available)

Paralogs for SLC4A4 Gene

Paralogs for SLC4A4 Gene

Selected SIMAP similar genes for SLC4A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC4A4: view

Variants for SLC4A4 Gene

Sequence variations from dbSNP and Humsavar for SLC4A4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs15439 -- 71,571,945(+) AATTC(A/C)TATAA utr-variant-3-prime
rs695231 -- 71,498,476(-) TACAG(A/C)GCAGG intron-variant
rs873953 -- 71,167,016(-) cataa(C/T)aaaat intron-variant
rs873954 -- 71,166,749(-) GCTCA(A/G)ACATA intron-variant
rs873955 -- 71,166,612(-) TCATT(C/T)ACATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC4A4 Gene

Variant ID Type Subtype PubMed ID
nsv879473 CNV Loss 21882294
nsv4382 CNV Loss 18451855
esv269898 CNV Insertion 20981092
esv2727799 CNV Deletion 23290073
esv1975599 CNV Deletion 18987734
nsv4383 CNV Insertion 18451855
esv2669073 CNV Deletion 23128226
nsv523289 CNV Loss 19592680
esv2476295 CNV Deletion 19546169
nsv4384 CNV Loss 18451855

Relevant External Links for SLC4A4 Gene

HapMap Linkage Disequilibrium report
SLC4A4
Human Gene Mutation Database (HGMD)
SLC4A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A4 Gene

Disorders for SLC4A4 Gene

(1) OMIM Diseases for SLC4A4 Gene (603345)

UniProtKB/Swiss-Prot

S4A4_HUMAN
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) [MIM:604278]: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. {ECO:0000269 PubMed:10545938, ECO:0000269 PubMed:15471865, ECO:0000269 PubMed:15713912, ECO:0000269 PubMed:15930088, ECO:0000269 PubMed:16636648, ECO:0000269 PubMed:17661077}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).

(13) Novoseek inferred disease relationships for SLC4A4 Gene

Disease -log(P) Hits PubMed IDs
proximal renal tubular acidosis 96 14
band keratopathy 72.1 3
acidosis renal tubular 48.1 1
acidosis 47.1 4
alkalosis 41.2 2

Relevant External Links for SLC4A4

Genetic Association Database (GAD)
SLC4A4
Human Genome Epidemiology (HuGE) Navigator
SLC4A4
genes like me logo Genes that share disorders with SLC4A4: view

Publications for SLC4A4 Gene

  1. Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter. (PMID: 9651366) Abuladze N. … Kurtz I. (J. Biol. Chem. 1998) 2 3 4 23
  2. Cloning and characterization of a human electrogenic Na+-HCO-3 cotransporter isoform (hhNBC). (PMID: 10069984) Choi I. … Boron W.F. (Am. J. Physiol. 1999) 3 4 23
  3. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. (PMID: 10545938) Igarashi T. … Endou H. (Nat. Genet. 1999) 3 4 23
  4. Expression of a sodium bicarbonate cotransporter in human parotid salivary glands. (PMID: 11743927) Park K. … Case R.M. (Arch. Oral Biol. 2002) 3 4 23
  5. Regulation of the sodium bicarbonate cotransporter kNBC1 function: role of Asp(986), Asp(988) and kNBC1-carbonic anhydrase II binding. (PMID: 12411514) Gross E. … Kurtz I. (J. Physiol. (Lond.) 2002) 3 4 23

Products for SLC4A4 Gene

Sources for SLC4A4 Gene

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