SLC9A1
entrez
6548
canonical
uniprot
P19634
canonical
ensembl
ENSG00000090020
resolver
ensp
ENSP00000263980
resolver
genesymbol
SLC9A1
resolver
genesymbol_syn
APNH1
resolver
genesymbol_syn
NHE1
resolver
hgnc
HGNC:11071
resolver
uniprot
B1ALD6
resolver
uniprot
B2RAH2
resolver
uniprot
D3DPL4
resolver
uniprot
Q96EM2
resolver
uniprot_entry
B2RAH2_HUMAN
resolver
uniprot_entry
SL9A1_HUMAN
resolver
uniprot_sec
B1ALD6
resolver
uniprot_sec
D3DPL4
resolver
uniprot_sec
Q96EM2
resolver
activity_regulation
ACTIVITY REGULATION: Activated at acidic pHs (Probable). Inhibited by amiloride and 5-amino-substituted derivatives (PubMed:17493937). Inhibited by cariporide and eniporide (PubMed:11412833). Phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (PI(3,4,5)P3) bind and differentially regulate SLC9A1 activity (PubMed:22020933). {ECO:0000269|PubMed:11412833, ECO:0000269|PubMed:17493937, ECO:0000269|PubMed:22020933, ECO:0000305|PubMed:7110335}.
uniprot
proteins
amino_acid_sequence
MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDVTTAPPEVTPESRPVNHSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFHVIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLRQFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPVAVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFVVALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASGVVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLFCLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFSLGYLLDKKHFPMCDLFLTAIITVIFFTVFVQGMTIRPLVDLLAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGHYGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSAVSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYEEAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRARIGSDPLAYEPKEDLPVITIDPASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTPAPSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ
uniprot
proteins
disease_involvement
DISEASE: Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291]: An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. {ECO:0000269|PubMed:25205112, ECO:0000269|PubMed:30237576}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Electroneutral Na(+) /H(+) antiporter that extrudes Na(+) in exchange for external protons driven by the inward sodium ion chemical gradient, protecting cells from acidification that occurs from metabolism (PubMed:11350981, PubMed:11532004, PubMed:14680478, PubMed:15035633, PubMed:15677483, PubMed:17073455, PubMed:17493937, PubMed:22020933, PubMed:27650500, PubMed:32130622, PubMed:7110335, PubMed:7603840). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry (By similarity). Plays a key role in maintening intracellular pH neutral and cell volume, and thus is important for cell growth, proliferation, migration and survival (PubMed:12947095, PubMed:15096511, PubMed:22020933, PubMed:8901634). In addition, can transport lithium Li(+) and also functions as a Na(+)/Li(+) antiporter (PubMed:7603840). SLC9A1 also functions in membrane anchoring and organization of scaffolding complexes that coordinate signaling inputs (PubMed:15096511). {ECO:0000250|UniProtKB:P26431, ECO:0000269|PubMed:11350981, ECO:0000269|PubMed:11532004, ECO:0000269|PubMed:12947095, ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:15096511, ECO:0000269|PubMed:15677483, ECO:0000269|PubMed:17073455, ECO:0000269|PubMed:17493937, ECO:0000269|PubMed:22020933, ECO:0000269|PubMed:27650500, ECO:0000269|PubMed:32130622, ECO:0000269|PubMed:7110335, ECO:0000269|PubMed:7603840, ECO:0000269|PubMed:8901634}.
uniprot
proteins
mass_dalton
90763
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="F->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 156; /note="L->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 157; /note="Q->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 158; /note="S->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 159; /note="D->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 160; /note="V->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 161; /note="F->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 162; /note="F->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 163; /note="L->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 164; /note="F->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 165; /note="L->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 166; /note="L->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 167; /note="P->A: Reduces activity."; /evidence="ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15677483"; MUTAGEN 167; /note="P->C,G: Almost complete loss of activity. Reduces membrane localization."; /evidence="ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15677483"; MUTAGEN 168; /note="P->A,C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15677483"; MUTAGEN 168; /note="P->G: Reduces activity."; /evidence="ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15677483"; MUTAGEN 169; /note="I->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 170; /note="I->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 171; /note="L->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 172; /note="D->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 173; /note="A->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 174; /note="G->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 175; /note="Y->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 176; /note="F->C: Almost complete loss of activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 177; /note="L->C: Reduces activity."; /evidence="ECO:0000269|PubMed:15677483"; MUTAGEN 180; /note="R->C: Reduces activity."; /evidence="ECO:0000269|PubMed:10713111"; MUTAGEN 181; /note="Q->C: Reduces activity."; /evidence="ECO:0000269|PubMed:10713111"; MUTAGEN 217; /note="E->A,Q: Does not affect membrane localization. Does not affect sodium:proton antiporter activity. Decreases sodium:proton antiporter activity; when associated with N-226. Reduces Vmax for Na(+) and Li(+); when associated with D-226."; /evidence="ECO:0000269|PubMed:32130622"; MUTAGEN 226; /note="D->A: Does not affect membrane localization. Does not affect sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:32130622"; MUTAGEN 226; /note="D->N: Does not affect membrane localization. Decreases sodium:proton antiporter activity. Reduces Vmax and Km for Na(+) and a slightly reduced Vmax and Km for Li(+). Decreases sodium:proton antiporter activity; when associated with Q-217. Reduces Vmax for Na(+) and Li(+); when associated with Q-217."; MUTAGEN 238; /note="D->A: Does not affect sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:34108458"; MUTAGEN 262; /note="E->I: Does not affect membrane localization. Abolishes sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:17073455"; MUTAGEN 262; /note="E->Q: Abolishes sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:11532004"; MUTAGEN 267; /note="D->N: Abolishes sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:11532004"; MUTAGEN 309; /note="G->V: Abolishes membrane localization."; /evidence="ECO:0000269|PubMed:17073455"; MUTAGEN 391; /note="E->Q: Abolishes plasma membrane localization. Reduces greatly sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:11532004"; MUTAGEN 518; /note="I->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-522."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 522; /note="I->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-518."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 526..531; /note="FLDHLL->QQDHQQ: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane. Abolishes interaction with TESC."; /evidence="ECO:0000269|PubMed:11350981, ECO:0000269|PubMed:30287853"; MUTAGEN 526..531; /note="FLDHLL->RRDHRR: Inhibits interaction with CHP1 and the exchange activity. CHPI does not localize at the cell membrane."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 526; /note="F->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-527."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 527; /note="L->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-526."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 530; /note="L->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-531."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 531; /note="L->Q: Reduces interaction with CHP1 and the exchange activity; when associated with Q-530."; /evidence="ECO:0000269|PubMed:11350981"; MUTAGEN 534; /note="I->D,K: Strongly reduced interaction with CHP2."; /evidence="ECO:0000269|PubMed:16710297"; MUTAGEN 537; /note="I->K: Strongly reduced interaction with CHP2."; /evidence="ECO:0000269|PubMed:16710297"; MUTAGEN 577; /note="Y->A: Decreases sodium:proton antiporter activity by 50%; when associated with A-578."; /evidence="ECO:0000269|PubMed:34108458"; MUTAGEN 578; /note="H->A: Decreases sodium:proton antiporter activity by 50%; when associated with A-577."; /evidence="ECO:0000269|PubMed:34108458"; MUTAGEN 779; /note="T->A: Does not affect plasma membrane localization."; /evidence="ECO:0000269|PubMed:31375679"; MUTAGEN 779; /note="T->D: Does not affect plasma membrane localization."; /evidence="ECO:0000269|PubMed:31375679
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000269|PubMed:8068684}.; PTM: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1. {ECO:0000250|UniProtKB:P26431}.; PTM: Phosphorylation at Thr-779 increases SLC9A1 activity. Specifically dephosphorylated at Thr-779 by PPP3CA that negatively regulates SLC9A1 activity (PubMed:31375679). Phosphorylation at Ser-648 by AKT1 reduces SLC9A1 binding to CALM1 (PubMed:18757828). {ECO:0000269|PubMed:18757828, ECO:0000269|PubMed:31375679}.; PTM: Palmitoylated; may play a major role in SLC9A1 regulation. {ECO:0000250|UniProtKB:P26431}.
uniprot
proteins
protein_family
Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
uniprot
proteins
pubmed
10713111
uniprot
proteins
pubmed
10913675
uniprot
proteins
pubmed
11350981
uniprot
proteins
pubmed
11412833
uniprot
proteins
pubmed
11532004
uniprot
proteins
pubmed
11696366
uniprot
proteins
pubmed
12226101
uniprot
proteins
pubmed
12809501
uniprot
proteins
pubmed
12947095
uniprot
proteins
pubmed
14680478
uniprot
proteins
pubmed
15035633
uniprot
proteins
pubmed
15096511
uniprot
proteins
pubmed
15323573
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15677483
uniprot
proteins
pubmed
16511206
uniprot
proteins
pubmed
16710297
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17050540
uniprot
proteins
pubmed
17073455
uniprot
proteins
pubmed
1712287
uniprot
proteins
pubmed
17493937
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18757828
uniprot
proteins
pubmed
19369449
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21392185
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2154036
uniprot
proteins
pubmed
22020933
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25205112
uniprot
proteins
pubmed
2536298
uniprot
proteins
pubmed
27650500
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
30287853
uniprot
proteins
pubmed
31375679
uniprot
proteins
pubmed
32130622
uniprot
proteins
pubmed
34108458
uniprot
proteins
pubmed
7110335
uniprot
proteins
pubmed
7603840
uniprot
proteins
pubmed
8068684
uniprot
proteins
pubmed
8283968
uniprot
proteins
pubmed
8901634
uniprot
proteins
pubmed
8967452
uniprot
proteins
pubmed
9688597
uniprot
proteins
sequence_length
815
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14680478, ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:15677483, ECO:0000269|PubMed:17073455, ECO:0000269|PubMed:32130622, ECO:0000269|PubMed:34108458}; Multi-pass membrane protein {ECO:0000269|PubMed:34108458}. Basolateral cell membrane {ECO:0000250|UniProtKB:P48762}; Multi-pass membrane protein {ECO:0000269|PubMed:34108458}. Note=Localized basolaterally in every epithelial cell, except in the choroid plexus where SLC9A1 is expressed luminally. {ECO:0000269|PubMed:19369449}.
uniprot
proteins
transmembrane_region
TRANSMEM 99..121; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 131..148; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 159..176; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 187..215; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 223..249; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 253..283; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 288..322; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 329..341; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 351..371; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 374..404; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 411..438; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 445..469; /note="Helical; Name=12"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW"; TRANSMEM 476..505; /note="Helical; Name=13"; /evidence="ECO:0000269|PubMed:34108458, ECO:0007744|PDB:7DSW
uniprot
proteins