Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9368
Gene name Gene Name - the full gene name approved by the HGNC.
NHERF family PDZ scaffold protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NHERF1
Synonyms (NCBI Gene) Gene synonyms aliases
EBP50, NHE-RF, NHERF, NHERF-1, NPHLOP2, SLC9A3R1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHLOP2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0005102 Function Signaling receptor binding IPI 16456542
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604990 11075 ENSG00000109062
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypophosphatemia with nephrolithiasis or osteoporosis Dominant hypophosphatemia with nephrolithiasis or osteoporosis rs121918610, rs200893951, rs1554095568
Marfan syndrome Mammary Ductal Carcinoma rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
28235801
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Unknown
Disease term Disease name Evidence References Source
Nephrolithiasis hypophosphatemic nephrolithiasis/osteoporosis 2 GenCC
Hypophosphatemia With Nephrolithiasis Or Osteoporosis dominant hypophosphatemia with nephrolithiasis or osteoporosis GenCC