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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:27,372,723-27,456,754)mRNA (may differ from genome)Protein (1214 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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.

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC4A7
Diseases sorted by gene-association score: renal tubular acidosis (9), usher syndrome, type 3a (7), usher syndrome, type 2c (5), usher syndrome type 2 (4), usher syndrome (2), usher syndrome, type 1b (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.92 RPKM in Colon - Sigmoid
Total median expression: 219.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.5071-0.134 Picture PostScript Text
3' UTR -869.404041-0.215 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011531 - HCO3_transpt_C
IPR013769 - HCO3_transpt_cyt
IPR003020 - HCO3_transpt_euk
IPR016152 - PTrfase/Anion_transptr

Pfam Domains:
PF07565 - Band 3 cytoplasmic domain
PF00955 - HCO3- transporter family

ModBase Predicted Comparative 3D Structure on Q9Y6M7
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005452 inorganic anion exchanger activity
GO:0008509 anion transmembrane transporter activity
GO:0008510 sodium:bicarbonate symporter activity
GO:0015293 symporter activity

Biological Process:
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0006820 anion transport
GO:0015698 inorganic anion transport
GO:0015701 bicarbonate transport
GO:0051453 regulation of intracellular pH
GO:0055085 transmembrane transport
GO:0060117 auditory receptor cell development
GO:0098656 anion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0032420 stereocilium
GO:0042995 cell projection
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  CR627428 - Homo sapiens mRNA; cDNA DKFZp686H168 (from clone DKFZp686H168).
AF047033 - Homo sapiens sodium bicarbonate cotransporter 3 (SLC4A7) mRNA, complete cds.
AF089726 - Homo sapiens sodium bicarbonate cotransporter 2b (NBC2B) mRNA, complete cds.
JA482255 - Sequence 238 from Patent WO2011072091.
JE980547 - Sequence 238 from Patent EP2862929.
AF053755 - Homo sapiens bicarbonate transporter (BT) mRNA, complete cds.
EU499349 - Homo sapiens clone NBCn1-G solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
EU934246 - Homo sapiens clone NBCn1-Ha solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
EU934247 - Homo sapiens clone NBCn1-Hb solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
EU934248 - Homo sapiens clone NBCn1-D solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
EU934249 - Homo sapiens clone NBCn1-E solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
EU934250 - Homo sapiens clone NBCn1-C solute carrier family 4 sodium bicarbonate cotransporter member 7 (SLC4A7) mRNA, complete cds, alternatively spliced.
FJ178574 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 type 3 variant (SLC4A7) mRNA, complete cds, alternatively spliced.
FJ178575 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 type 1 variant (SLC4A7) mRNA, complete cds, alternatively spliced.
GU354307 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 truncated type 4 variant mRNA, complete cds, alternatively spliced.
GU354308 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 mRNA, complete cds, alternatively spliced.
GU354310 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 truncated type 1b variant mRNA, complete cds, alternatively spliced.
AB012130 - Homo sapiens SBC2 mRNA for sodium bicarbonate cotransporter2, complete cds.
FJ178576 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 type 2 variant (SLC4A7) mRNA, complete cds, alternatively spliced.
GU354309 - Homo sapiens solute carrier family 4 sodium bicarbonate cotransporter member 7 truncated type 2b variant mRNA, complete cds, alternatively spliced.
BC172463 - Synthetic construct Homo sapiens clone IMAGE:100069157, MGC:199168 solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7) mRNA, encodes complete protein.
BC156213 - Synthetic construct Homo sapiens clone IMAGE:100061541, MGC:190018 solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7) mRNA, encodes complete protein.
AL833589 - Homo sapiens mRNA; cDNA DKFZp686D0264 (from clone DKFZp686D0264).
AL389947 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2005674.
JD560147 - Sequence 541171 from Patent EP1572962.
JD082751 - Sequence 63775 from Patent EP1572962.
JD357082 - Sequence 338106 from Patent EP1572962.
JD508951 - Sequence 489975 from Patent EP1572962.
JD110589 - Sequence 91613 from Patent EP1572962.
JD089993 - Sequence 71017 from Patent EP1572962.
JD038988 - Sequence 20012 from Patent EP1572962.
JD261587 - Sequence 242611 from Patent EP1572962.
JD565006 - Sequence 546030 from Patent EP1572962.
JD202433 - Sequence 183457 from Patent EP1572962.
JD268537 - Sequence 249561 from Patent EP1572962.
JD232288 - Sequence 213312 from Patent EP1572962.
JD279795 - Sequence 260819 from Patent EP1572962.
JD314453 - Sequence 295477 from Patent EP1572962.
MF281507 - Homo sapiens miAB18_pre miRNA, complete sequence.
JD182947 - Sequence 163971 from Patent EP1572962.
MF281469 - Homo sapiens miAB18 miRNA, complete sequence.
JD043207 - Sequence 24231 from Patent EP1572962.
JD502225 - Sequence 483249 from Patent EP1572962.
JD551782 - Sequence 532806 from Patent EP1572962.
JD350671 - Sequence 331695 from Patent EP1572962.
JD240268 - Sequence 221292 from Patent EP1572962.
JD236746 - Sequence 217770 from Patent EP1572962.
JD428801 - Sequence 409825 from Patent EP1572962.
AK310865 - Homo sapiens cDNA, FLJ17907.
JD500786 - Sequence 481810 from Patent EP1572962.
JD528105 - Sequence 509129 from Patent EP1572962.
JD048800 - Sequence 29824 from Patent EP1572962.
JD521386 - Sequence 502410 from Patent EP1572962.
JD499402 - Sequence 480426 from Patent EP1572962.
JD320112 - Sequence 301136 from Patent EP1572962.
JD171330 - Sequence 152354 from Patent EP1572962.
JD258609 - Sequence 239633 from Patent EP1572962.
JD299135 - Sequence 280159 from Patent EP1572962.
JD491250 - Sequence 472274 from Patent EP1572962.
JD509767 - Sequence 490791 from Patent EP1572962.
AK309734 - Homo sapiens cDNA, FLJ99775.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y6M7 (Reactome details) participates in the following event(s):

R-HSA-425483 SLC4A5,7,9 cotransport Na+ with 3HCO3-
R-HSA-425381 Bicarbonate transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A6NIA8, BT, NBC2, NBC2B, NBC3, NM_003615, O60350, Q6AHZ9, Q9HC88, Q9UIB9, Q9Y6M7, S4A7_HUMAN, SBC2, SLC4A6, uc003cdv.1, uc003cdv.2, uc003cdv.3, uc003cdv.4, uc003cdv.5
UCSC ID: uc003cdv.5
RefSeq Accession: NM_003615
Protein: Q9Y6M7 (aka S4A7_HUMAN)
CCDS: CCDS33721.1, CCDS82747.1, CCDS82748.1, CCDS82749.1, CCDS82751.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.