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Results for the Protein: O14745
41688557

NHRF1_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Short=NHERF-1; AltName: Full=Ezrin-radixin-moesin-binding phosphoprotein 50; Short=EBP50; AltName: Full=Regulatory cofactor of Na(+)/H(+) exchanger; AltName: Full=Sodium-hydrogen exchanger regulatory factor 1; AltName: Full=Solute carrier family 9 isoform A3 regulatory factor 1

Known Diseases associated with this Protein:
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (NPHLOP2)
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Default View:

PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ_glycyl_aminopept - cd00990
PDZ - cd00136
PDZ_metalloprotease - cd00989
PDZ_CTP_protease - cd00988
EBP50_C-term - pfam09007


Swiss-Prot Protein: O14745
Identical to: NP_004243
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZ_signalingcd009925.9e-281291
PDZcd001367.1e-132291
PDZ_glycyl_aminopeptcd009900.0006322109
PDZ_metalloproteasecd009894.6e-0624106
PDZ_CTP_proteasecd009880.0001632108
PDZ_signalingcd009921.2e-24152231
PDZ_CTP_proteasecd009880.00049161248
PDZcd001366e-11162231
PDZpfam005953.7e-121491
PDZpfam005956.9e-14154231
PDZsmart002283e-251194
PDZsmart002285.4e-22151234
EBP50_C-termpfam090079.4e-27318358

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048021Diseasep.ARG153GLNNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
Swiss-ProtVAR_067661Diseasep.GLU68ALANephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
Swiss-ProtVAR_048022Diseasep.GLU225LYSNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
Swiss-ProtVAR_034899Diseasep.LEU110VALNephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2)
OMIM604990.0002 Diseasep.ARG153GLNNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
OMIM604990.0003 Diseasep.GLU225LYSNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
OMIM604990.0001 Diseasep.LEU110VALNEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2



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