SLC9A6
entrez
10479
canonical
uniprot
Q92581
canonical
ensembl
ENSG00000198689
resolver
ensp
ENSP00000359729
resolver
ensp
ENSP00000359732
resolver
ensp
ENSP00000359735
resolver
ensp
ENSP00000487486
resolver
ensp
ENSP00000490330
resolver
ensp
ENSP00000490406
resolver
ensp
ENSP00000490648
resolver
ensp
ENSP00000490731
resolver
ensp
ENSP00000502845
resolver
ensp
ENSP00000635047
resolver
ensp
ENSP00000676651
resolver
enst
ENST00000630721
resolver
enst
ENST00000637195
resolver
enst
ENST00000678163
resolver
enst
ENST00000964988
resolver
genesymbol
SLC9A6
resolver
genesymbol_syn
KIAA0267
resolver
genesymbol_syn
NHE6
resolver
hgnc
HGNC:11079
resolver
uniprot
A0A0D9SGH0
resolver
uniprot
A0A1B0GV11
resolver
uniprot
A0A7I2V2B0
resolver
uniprot
A6NIQ9
resolver
uniprot
A8K160
resolver
uniprot
B4DU30
resolver
uniprot
B7ZAE0
resolver
uniprot
Q3ZCW7
resolver
uniprot
Q5JPP8
resolver
uniprot
Q5JPP9
resolver
uniprot
Q86VS0
resolver
uniprot
Q8WYK8
resolver
uniprot_entry
A0A0D9SGH0_HUMAN
resolver
uniprot_entry
A0A1B0GV11_HUMAN
resolver
uniprot_entry
A0A7I2V2B0_HUMAN
resolver
uniprot_entry
SL9A6_HUMAN
resolver
uniprot_sec
A6NIQ9
resolver
uniprot_sec
A8K160
resolver
uniprot_sec
B4DU30
resolver
uniprot_sec
B7ZAE0
resolver
uniprot_sec
Q3ZCW7
resolver
uniprot_sec
Q5JPP8
resolver
uniprot_sec
Q5JPP9
resolver
uniprot_sec
Q86VS0
resolver
uniprot_sec
Q8WYK8
resolver
amino_acid_sequence
MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSEKQAEESHRQDSANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGIHVPSDVNNVTLSCEVQSSPTTLLVNVSGKFYEYMLKGEISSHELNNVQDNEMLRKVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVTGQLAGDFYFTDCLLFGAIVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSSSIVAYQPAGDNSHTFDVTAMFKSIGIFLGIFSGSFAMGAATGVVTALVTKFTKLREFQLLETGLFFLMSWSTFLLAEAWGFTGVVAVLFCGITQAHYTYNNLSTESQHRTKQLFELLNFLAENFIFSYMGLTLFTFQNHVFNPTFVVGAFVAIFLGRAANIYPLSLLLNLGRRSKIGSNFQHMMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTVWVFGGGTTAMLSCLHIRVGVDSDQEHLGVPENERRTTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTTLPACCGPIARCLTSPQAYENQEQLKDDDSDLILNDGDISLTYGDSTVNTEPATSSAPRRFMGNSSEDALDRELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243]: A syndrome characterized by profound intellectual disability, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome. {ECO:0000269|PubMed:18342287, ECO:0000269|PubMed:24123876, ECO:0000269|PubMed:25044251, ECO:0000269|PubMed:30296617, ECO:0000269|PubMed:32277048}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment (NDPACX) [MIM:301142]: An X-linked dominant disorder restricted to females and characterized by parkinsonism, mild to moderate intellectual disability, cognitive decline, and psychiatric abnormalities. Disease onset is in mid-to-late adulthood, although some affected females show learning difficulties earlier in life. Brain imaging may show cerebral or cerebellar atrophy. {ECO:0000269|PubMed:35198730, ECO:0000269|PubMed:39810750}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endosomal Na(+), K(+)/H(+) antiporter (PubMed:15522866, PubMed:28635961, PubMed:31676550, PubMed:32277048). Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+). By facilitating proton efflux, SLC9A6 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Responsible for alkalizing and maintaining the endosomal pH, and consequently in, e.g., endosome maturation and trafficking of recycling endosomal cargo (PubMed:15522866, PubMed:28635961, PubMed:31676550, PubMed:32277048). Plays a critical role during neurodevelopment by regulating synaptic development and plasticity (By similarity). Implicated in the maintenance of cell polarity in a manner that is dependent on its ability to modulate intravesicular pH (PubMed:20130086). Regulates intracellular pH in some specialized cells, osteoclasts and stereocilia where this transporter localizes to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:A1L3P4, ECO:0000269|PubMed:15522866, ECO:0000269|PubMed:20130086, ECO:0000269|PubMed:28635961, ECO:0000269|PubMed:31676550, ECO:0000269|PubMed:32277048}.
uniprot
proteins
mass_dalton
77917
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated (in vitro). {ECO:0000269|PubMed:30296617}.; PTM: Glycosylated. {ECO:0000269|PubMed:32277048}.
uniprot
proteins
protein_family
Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
uniprot
proteins
pubmed
11641397
uniprot
proteins
pubmed
11940519
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15522866
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17370265
uniprot
proteins
pubmed
18057008
uniprot
proteins
pubmed
18342287
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20130086
uniprot
proteins
pubmed
24123876
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25044251
uniprot
proteins
pubmed
28635961
uniprot
proteins
pubmed
30296617
uniprot
proteins
pubmed
31676550
uniprot
proteins
pubmed
32277048
uniprot
proteins
pubmed
35198730
uniprot
proteins
pubmed
39810750
uniprot
proteins
pubmed
9039502
uniprot
proteins
pubmed
9507001
uniprot
proteins
sequence_length
701
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:11641397, ECO:0000269|PubMed:11940519, ECO:0000269|PubMed:35198730}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000269|PubMed:11940519, ECO:0000269|PubMed:18057008, ECO:0000269|PubMed:28635961, ECO:0000269|PubMed:30296617, ECO:0000269|PubMed:32277048, ECO:0000269|PubMed:35198730}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:11940519, ECO:0000269|PubMed:28635961, ECO:0000269|PubMed:35198730}; Multi-pass membrane protein. Late endosome membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:11940519, ECO:0000269|PubMed:28635961, ECO:0000269|PubMed:30296617, ECO:0000269|PubMed:35198730}; Multi-pass membrane protein {ECO:0000255}. Note=Present predominantly in the recycling compartments including early and recycling endosomes, but undergoes plasma membrane localization during vesicular recycling, which is enhanced upon certain stimuli, such as hypoxia (PubMed:11940519, PubMed:28635961, PubMed:30296617). Has a major plasmalemmal distribution in a few specialized cells, such as in vestibular hair bundles and osteoblasts (By similarity). {ECO:0000250|UniProtKB:A1L3P4, ECO:0000269|PubMed:11940519, ECO:0000269|PubMed:28635961, ECO:0000269|PubMed:30296617, ECO:0000269|PubMed:35198730}.
uniprot
proteins
transmembrane_region
TRANSMEM 71..91; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 103..123; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 211..231; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 252..272; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 278..298; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 324..344; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 372..392; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 414..434; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 436..456; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 479..499; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 515..535; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins