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MGP000870

UniProt Annotations

Entry Information
Gene Namesolute carrier family 26 (anion exchanger), member 3
Protein EntryS26A3_HUMAN
UniProt IDP40879
SpeciesHuman
Comments
Comment typeDescription
Developmental StageExpression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon.
DiseaseDiarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]: A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. {ECO:0000269|PubMed:11524734, ECO:0000269|PubMed:19861545, ECO:0000269|PubMed:21150650, ECO:0000269|PubMed:21394828, ECO:0000269|PubMed:8896562, ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionChloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.
InteractionQ15599:SLC9A3R2; NbExp=5; IntAct=EBI-8542350, EBI-1149760;
PtmN-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation. {ECO:0000269|PubMed:22159084}.
SimilarityBelongs to the SLC26A/SulP transporter (TC 2.A.53) family. {ECO:0000305}.
SimilarityContains 1 STAS domain. {ECO:0000255|PROSITE- ProRule:PRU00198}.
Subcellular LocationApical cell membrane {ECO:0000269|PubMed:22159084}; Multi-pass membrane protein {ECO:0000269|PubMed:22159084}. Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). {ECO:0000250}.
SubunitInteracts with CFTR, SLC26A6 and SLC9A3R1 (By similarity). Interacts with PDZK1. {ECO:0000250, ECO:0000269|PubMed:15766278}.
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