NHERF1
entrez
9368
canonical
uniprot
O14745
canonical
ensembl
ENSG00000109062
resolver
ensp
ENSP00000262613
resolver
genesymbol
NHERF1
resolver
genesymbol_syn
NHERF
resolver
genesymbol_syn
SLC9A3R1
resolver
hgnc
HGNC:11075
resolver
uniprot
B3KY21
resolver
uniprot
O43552
resolver
uniprot
Q86WQ5
resolver
uniprot_entry
NHRF1_HUMAN
resolver
uniprot_sec
B3KY21
resolver
uniprot_sec
O43552
resolver
uniprot_sec
Q86WQ5
resolver
amino_acid_sequence
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL
uniprot
proteins
disease_involvement
DISEASE: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269|PubMed:18784102, ECO:0000269|PubMed:22506049}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa. {ECO:0000250, ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102, ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9430655}.
uniprot
proteins
mass_dalton
38868
uniprot
proteins
mutagenesis
MUTAGEN 24..26; /note="YGF->AGA: Loss of interaction with ACE2."; /evidence="ECO:0000269|PubMed:34189428"; MUTAGEN 164..166; /note="YGF->AGA: Loss of interaction with ACE2."; /evidence="ECO:0000269|PubMed:34189428"; MUTAGEN 355; /note="F->R: Loss of MSX binding."; /evidence="ECO:0000269|PubMed:15020681"; MUTAGEN 358; /note="Missing: Reduces MSX binding."; /evidence="ECO:0000269|PubMed:15020681
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues. {ECO:0000269|PubMed:9314537}.
uniprot
proteins
pubmed
10499588
uniprot
proteins
pubmed
11285285
uniprot
proteins
pubmed
11304524
uniprot
proteins
pubmed
11352585
uniprot
proteins
pubmed
11684085
uniprot
proteins
pubmed
11882663
uniprot
proteins
pubmed
11956211
uniprot
proteins
pubmed
12004055
uniprot
proteins
pubmed
12080081
uniprot
proteins
pubmed
12145337
uniprot
proteins
pubmed
12154080
uniprot
proteins
pubmed
12193606
uniprot
proteins
pubmed
12403779
uniprot
proteins
pubmed
12444018
uniprot
proteins
pubmed
12444019
uniprot
proteins
pubmed
12471024
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
12830000
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15020681
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16615918
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18784102
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19555689
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22506049
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34189428
uniprot
proteins
pubmed
9096337
uniprot
proteins
pubmed
9314537
uniprot
proteins
pubmed
9430655
uniprot
proteins
sequence_length
358
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Apical cell membrane {ECO:0000250}. Endomembrane system; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells. {ECO:0000250}.
uniprot
proteins