Full name: NHERF family PDZ scaffold protein 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: EBP-50; NHE-RF; NHERF-1; Slc9a3r1

Summary: Enables dopamine receptor binding activity and phosphatase binding activity. Involved in several processes, including maintenance of epithelial cell apical/basal polarity; negative regulation of signal transduction; and organic anion transport. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; cellular phosphate ion homeostasis; and dopamine receptor signaling pathway. Located in several cellular components, including brush border membrane; sperm midpiece; and stereocilium tip. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; pleura; and sensory organ. Human ortholog(s) of this gene implicated in hypophosphatemic nephrolithiasis/osteoporosis 2. Orthologous to human SLC9A3R1 (SLC9A3 regulator 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Broad expression in large intestine adult (RPKM 268.1), small intestine adult (RPKM 265.0) and 20 other tissues

Gene size: 17872bp

Exon count: 6