NHERF1
NHERF family PDZ scaffold protein 1 | EBP50, NHE-RF, NHERF, NHERF-1, SLC9A3R1

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

Member of: DE-4 DE-4.5 Developmental clusters: GC6
Biological processes 87 terms
PDZ domain binding (GO:0030165)actin cytoskeleton (GO:0015629)apical part of cell (GO:0045177)apical plasma membrane (GO:0016324)apical plasma membrane (GO:0016324)apical plasma membrane (GO:0016324)beta-2 adrenergic receptor binding (GO:0031698)beta-catenin binding (GO:0008013)beta-catenin binding (GO:0008013)bile acid secretion (GO:0032782)bile acid secretion (GO:0032782)brush border membrane (GO:0031526)cell periphery (GO:0071944)cerebrospinal fluid circulation (GO:0090660)channel activator activity (GO:0099103)chloride channel regulator activity (GO:0017081)cilium organization (GO:0044782)cilium organization (GO:0044782)cytoplasm (GO:0005737)cytoplasm (GO:0005737)dopamine receptor binding (GO:0050780)endomembrane system (GO:0012505)establishment of Golgi localization (GO:0051683)establishment of epithelial cell apical/basal polarity (GO:0045198)extracellular exosome (GO:0070062)filopodium (GO:0030175)gamma-aminobutyric acid import (GO:0051939)gamma-aminobutyric acid transmembrane transporter activity (GO:0015185)gland morphogenesis (GO:0022612)glutathione transport (GO:0034635)glutathione transport (GO:0034635)growth factor receptor binding (GO:0070851)identical protein binding (GO:0042802)import across plasma membrane (GO:0098739)maintenance of epithelial cell apical/basal polarity (GO:0045199)maintenance of epithelial cell apical/basal polarity (GO:0045199)maintenance of epithelial cell apical/basal polarity (GO:0045199)membrane (GO:0016020)membrane (GO:0016020)microvillus (GO:0005902)microvillus (GO:0005902)microvillus assembly (GO:0030033)microvillus membrane (GO:0031528)molecular adaptor activity (GO:0060090)morphogenesis of an epithelium (GO:0002009)negative regulation of ERK1 and ERK2 cascade (GO:0070373)negative regulation of canonical Wnt signaling pathway (GO:0090090)negative regulation of cell motility (GO:2000146)negative regulation of cell population proliferation (GO:0008285)negative regulation of cell population proliferation (GO:0008285)negative regulation of mitotic cell cycle (GO:0045930)negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898)negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898)negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898)negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)nuclear migration (GO:0007097)nucleus (GO:0005634)perinuclear region of cytoplasm (GO:0048471)phosphatase binding (GO:0019902)phosphatase binding (GO:0019902)plasma membrane organization (GO:0007009)plasma membrane organization (GO:0007009)plasma membrane protein complex (GO:0098797)positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)protein binding (GO:0005515)protein localization to plasma membrane (GO:0072659)protein localization to plasma membrane (GO:0072659)protein-containing complex assembly (GO:0065003)protein-membrane adaptor activity (GO:0043495)regulation of cell shape (GO:0008360)regulation of cell size (GO:0008361)regulation of protein kinase activity (GO:0045859)renal absorption (GO:0070293)renal absorption (GO:0070293)renal phosphate ion absorption (GO:0097291)ruffle (GO:0001726)signaling receptor binding (GO:0005102)signaling receptor binding (GO:0005102)sperm midpiece (GO:0097225)sperm midpiece (GO:0097225)stereocilium (GO:0032420)stereocilium tip (GO:0032426)transport across blood-brain barrier (GO:0150104)type 2 metabotropic glutamate receptor binding (GO:0031799)type 3 metabotropic glutamate receptor binding (GO:0031800)vesicle (GO:0031982)
Expression (TPM)
NHERF1 — as a Regulated Gene

TFs regulating NHERF1 0 TFs

Transcription factors with Perturb-seq knockdown data for NHERF1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NHERF1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to NHERF1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NHERF1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr17:74,453,513–74,454,652 294.5 kb Distal (>10kb) Multiome 751
chr17:74,642,311–74,642,966 105.7 kb Distal (>10kb) Multiome 119
chr17:74,643,823–74,644,224 104.4 kb Distal (>10kb) Multiome 17
chr17:74,671,047–74,671,700 77.2 kb Distal (>10kb) Multiome 938
chr17:74,736,296–74,738,156 11.3 kb Distal (>10kb) Multiome 797
chr17:74,744,666–74,745,585 3.8 kb Proximal (<10kb) Multiome 580
chr17:74,745,827–74,747,102 2.0 kb Proximal (<10kb) Multiome 213
chr17:74,748,109–74,749,683 97 bp At TSS Multiome 915
chr17:74,775,871–74,776,940 27.7 kb Distal (>10kb) Multiome 798
chr17:74,842,511–74,843,541 94.3 kb Distal (>10kb) Multiome 412
chr17:74,852,259–74,853,211 104.0 kb Distal (>10kb) Multiome 435
chr17:74,872,506–74,873,926 124.5 kb Distal (>10kb) Multiome 1008
chr17:74,893,600–74,894,183 145.1 kb Distal (>10kb) Multiome 189
chr17:74,923,198–74,923,804 175.0 kb Distal (>10kb) Multiome 543
chr17:74,972,019–74,973,116 224.1 kb Distal (>10kb) Multiome 607
chr17:74,982,006–74,982,936 233.7 kb Distal (>10kb) Multiome 952
chr17:74,987,081–74,988,770 239.0 kb Distal (>10kb) Multiome 702
chr17:75,012,158–75,013,285 264.1 kb Distal (>10kb) Multiome 1058
chr17:75,033,550–75,035,757 286.5 kb Distal (>10kb) Multiome 1228
chr17:75,046,451–75,047,855 298.5 kb Distal (>10kb) Multiome 961

Genome Browser

Genomic view of the NHERF1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr17:74,443,513 – 75,057,855
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
Huangfu Lab · Publications · Resources · Contact