Human Gene SLC4A7 (ENST00000295736.9) Description and Page Index
Description: Homo sapiens solute carrier family 4 member 7 (SLC4A7), transcript variant 1, mRNA. (from RefSeq NM_003615) RefSeq Summary (NM_003615): This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]. Gencode Transcript: ENST00000295736.9 Gencode Gene: ENSG00000033867.16 Transcript (Including UTRs) Position: hg38 chr3:27,372,723-27,456,754 Size: 84,032 Total Exon Count: 25 Strand: - Coding Region Position: hg38 chr3:27,376,764-27,456,683 Size: 79,920 Coding Exon Count: 25
ID:S4A7_HUMAN DESCRIPTION: RecName: Full=Sodium bicarbonate cotransporter 3; AltName: Full=Sodium bicarbonate cotransporter 2; AltName: Full=Sodium bicarbonate cotransporter 2b; Short=Bicarbonate transporter; AltName: Full=Solute carrier family 4 member 7; FUNCTION: Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity. ENZYME REGULATION: Transporter activity is regulated by CA2/carbonic anhydrase 2, cAMP and PKA. Insensitive to stilbene derivatives. PubMed:10347222 states it is inhibited by 5-(N-ethyl- N-isopropyl)-amiloride (EIPA). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=24 mM for external sodium; SUBUNIT: Interacts with CFTR through SLC9A3R1/EBP50. Interacts with USH1C. Forms a complex with ATP6V1B1 and SLC9A3R1/EBP50. Interacts in a pH dependent-manner with CA2/carbonic anhydrase 2. INTERACTION: P31946:YWHAB; NbExp=1; IntAct=EBI-1044546, EBI-359815; SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein (By similarity). Cell projection, stereocilium (By similarity). Note=Also described at the apical cell membrane. Localizes to the stereocilia of cochlear outer hair cells and to the lateral membrane of cochlear inner hair cells (By similarity). TISSUE SPECIFICITY: Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine, ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle. DOMAIN: The PDZ-binding motif mediates interaction with the CFTR, SLC9A3R1/EBP50 complex and probably with USH1C. SIMILARITY: Belongs to the anion exchanger (TC 2.A.31) family.
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 Q9Y6M7
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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.