Human Gene SLC4A8 (ENST00000514353.7) from GENCODE V44
Description: Homo sapiens solute carrier family 4 member 8 (SLC4A8), transcript variant 5, mRNA. (from RefSeq NM_001258403) RefSeq Summary (NM_001258403): The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Gencode Transcript: ENST00000514353.7 Gencode Gene: ENSG00000050438.17 Transcript (Including UTRs) Position: hg38 chr12:51,425,117-51,480,610 Size: 55,494 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr12:51,450,905-51,480,222 Size: 29,318 Coding Exon Count: 15
ID:S4A8_HUMAN DESCRIPTION: RecName: Full=Electroneutral sodium bicarbonate exchanger 1; AltName: Full=Electroneutral Na(+)-driven Cl-HCO3 exchanger; AltName: Full=Solute carrier family 4 member 8; AltName: Full=k-NBC3; FUNCTION: Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity. ENZYME REGULATION: Activity is inhibited by 4,4'-Di- isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in the pyramidal cells of the hippocampus (at protein level). Highly expressed in all major regions of the brain, spinal column and in testis, and moderate levels in trachea, thyroid and medulla region of kidney. Low expression levels observed in pancreas and kidney cortex. SIMILARITY: Belongs to the anion exchanger (TC 2.A.31) family. SEQUENCE CAUTION: Sequence=BAA34459.1; Type=Erroneous initiation; Sequence=CAD38576.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07565 - Band 3 cytoplasmic domain PF00955 - HCO3- transporter family
ModBase Predicted Comparative 3D Structure on Q2Y0W8
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.