Gene Gene information from NCBI Gene database.
Entrez ID 9368
Gene name NHERF family PDZ scaffold protein 1
Gene symbol NHERF1
Synonyms (NCBI Gene)
EBP50NHE-RFNHERFNHERF-1NPHLOP2SLC9A3R1
Chromosome 17
Chromosome location 17q25.1
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs119486097 G>A Pathogenic, likely-benign, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT018193 hsa-miR-335-5p Microarray 18185580
MIRT032319 hsa-let-7b-5p Proteomics 18668040
MIRT038082 hsa-miR-423-5p CLASH 23622248
MIRT036977 hsa-miR-877-3p CLASH 23622248
MIRT1368669 hsa-miR-1 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
105
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0002009 Process Morphogenesis of an epithelium NAS 25775275
GO:0003096 Process Renal sodium ion transport IEA
GO:0005102 Function Signaling receptor binding IBA
GO:0005102 Function Signaling receptor binding IPI 16456542
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604990 11075 ENSG00000109062
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14745
Protein name Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (NHERF-1) (Ezrin-radixin-moesin-binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium-hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory
Protein function Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized AD
PDB 1G9O , 1GQ4 , 1GQ5 , 1I92 , 1SGH , 2D10 , 2JXO , 2KJD , 2KRG , 2M0T , 2M0U , 2M0V , 2OZF , 4JL7 , 4LMM , 4MPA , 4N6X , 4PQW , 4Q3H , 6RQR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17820 PDZ_6 38 92 PDZ domain Domain
PF00595 PDZ 154 231 PDZ domain Domain
PF09007 EBP50_C 235 358 EBP50, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast. {ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9314537}.
Sequence
Sequence length 358
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Tight junction
Parathyroid hormone synthesis, secretion and action
Pathogenic Escherichia coli infection
Human papillomavirus infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
48
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic kidney disease Conflicting classifications of pathogenicity rs41282065 RCV001171340
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs138547261 RCV005912431
Dominant hypophosphatemia with nephrolithiasis or osteoporosis Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs119486097, rs755665225, rs138547261 RCV005357080
RCV005356475
RCV005359796
Familial cancer of breast Conflicting classifications of pathogenicity rs138547261 RCV005912429