SLC9A9
entrez
285195
canonical
uniprot
Q8IVB4
canonical
ensembl
ENSG00000181804
resolver
ensp
ENSP00000320246
resolver
ensp
ENSP00000784995
resolver
enst
ENST00000316549
resolver
genesymbol
SLC9A9
resolver
genesymbol_syn
NHE9
resolver
hgnc
HGNC:20653
resolver
uniprot
A6NMQ9
resolver
uniprot
Q3LIC2
resolver
uniprot
Q5JPI6
resolver
uniprot
Q5WA58
resolver
uniprot
Q8NAB9
resolver
uniprot_entry
SL9A9_HUMAN
resolver
uniprot_sec
A6NMQ9
resolver
uniprot_sec
Q3LIC2
resolver
uniprot_sec
Q5JPI6
resolver
uniprot_sec
Q5WA58
resolver
uniprot_sec
Q8NAB9
resolver
amino_acid_sequence
MERQSRVMSEKDEYQFQHQGAVELLVFNFLLILTILTIWLFKNHRFRFLHETGGAMVYGLIMGLILRYATAPTDIESGTVYDCVKLTFSPSTLLVNITDQVYEYKYKREISQHNINPHQGNAILEKMTFDPEIFFNVLLPPIIFHAGYSLKKRHFFQNLGSILTYAFLGTAISCIVIGLIMYGFVKAMIHAGQLKNGDFHFTDCLFFGSLMSATDPVTVLAIFHELHVDPDLYTLLFGESVLNDAVAIVLTYSISIYSPKENPNAFDAAAFFQSVGNFLGIFAGSFAMGSAYAIITALLTKFTKLCEFPMLETGLFFLLSWSAFLSAEAAGLTGIVAVLFCGVTQAHYTYNNLSSDSKIRTKQLFEFMNFLAENVIFCYMGLALFTFQNHIFNALFILGAFLAIFVARACNIYPLSFLLNLGRKQKIPWNFQHMMMFSGLRGAIAFALAIRNTESQPKQMMFTTTLLLVFFTVWVFGGGTTPMLTWLQIRVGVDLDENLKEDPSSQHQEANNLDKNMTKAESARLFRMWYSFDHKYLKPILTHSGPPLTTTLPEWCGPISRLLTSPQAYGEQLKEDDVECIVNQDELAINYQEQASSPCSPPARLGLDQKASPQTPGKENIYEGDLGLGGYELKLEQTLGQSQLN
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9. {ECO:0000269|PubMed:14569117}.; DISEASE: Autism 16 (AUTS16) [MIM:613410]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTS16 can be associated with epilepsy. {ECO:0000269|PubMed:18621663}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endosomal Na(+), K(+)/H(+) antiporter. Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+) (Probable). By facilitating proton efflux, SLC9A9 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Regulates organellar pH and consequently, e.g., endosome maturation and endocytic trafficking of plasma membrane receptors and neurotransporters (PubMed:15522866, PubMed:24065030, PubMed:28130443). Promotes the recycling of transferrin receptors back to the cell surface to facilitate additional iron uptake in the brain (PubMed:28130443). Regulates synaptic transmission by regulating the luminal pH of axonal endosomes (By similarity). Regulates phagosome lumenal pH, thus affecting phagosome maturation, and consequently, microbicidal activity in macrophages (By similarity). Can also be active at the cell surface of specialized cells, e.g., in the inner ear hair bundles uses the high K(+) of the endolymph to regulate intracellular pH (By similarity). {ECO:0000250|UniProtKB:Q8BZ00, ECO:0000269|PubMed:15522866, ECO:0000269|PubMed:24065030, ECO:0000269|PubMed:28130443, ECO:0000305|PubMed:15522866}.
uniprot
proteins
mass_dalton
72565
uniprot
proteins
mutagenesis
MUTAGEN 176; /note="V->I: Normal protein expression. Does not affect endosomal localization. Fails to alkalinize endosomal lumen."; /evidence="ECO:0000269|PubMed:24065030"; MUTAGEN 236; /note="L->S: Normal protein expression. Fails to alkalinize endosomal lumen. Does not affect endosomal localization."; /evidence="ECO:0000269|PubMed:24065030"; MUTAGEN 438; /note="S->P: Normal protein expression. Fails to alkalinize endosomal lumen. Does not affect endosomal localization."; /evidence="ECO:0000269|PubMed:24065030
uniprot
proteins
protein_family
Monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14569117
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15522866
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18057008
uniprot
proteins
pubmed
18621663
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24065030
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28130443
uniprot
proteins
sequence_length
645
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:15522866}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F7B113}. Early endosome membrane {ECO:0000269|PubMed:24065030, ECO:0000269|PubMed:28130443}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F7B113}. Recycling endosome membrane {ECO:0000269|PubMed:15522866, ECO:0000269|PubMed:24065030, ECO:0000269|PubMed:28130443}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F7B113}. Cell membrane {ECO:0000250|UniProtKB:Q8BZ00}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F7B113}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q8BZ00}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F7B113}. Note=Localized to the plasma membrane in inner ear hair cell bundle. {ECO:0000250|UniProtKB:Q8BZ00}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..41; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 46..66; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 127..147; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 204..224; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 236..256; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 278..298; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 302..322; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 323..343; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 365..385; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 387..407; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 430..450; /note="Helical; Name=12"; /evidence="ECO:0000255"; TRANSMEM 466..486; /note="Helical; Name=13"; /evidence="ECO:0000255
uniprot
proteins