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MGP006958

UniProt Annotations

Entry Information
Gene Namesolute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
Protein EntrySL9A9_HUMAN
UniProt IDQ8IVB4
SpeciesHuman
Comments
Comment typeDescription
DiseaseAutism 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 mental retardation. AUTS16 can be associated with epilepsy. {ECO:0000269|PubMed:18621663}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseNote=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.
FunctionMay act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell. {ECO:0000269|PubMed:15522866}.
InteractionQ8IUH5:ZDHHC17; NbExp=2; IntAct=EBI-9092184, EBI-524753;
Sequence CautionSequence=BAC04005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. {ECO:0000305}.
Subcellular LocationLate endosome membrane {ECO:0000269|PubMed:15522866}; Multi-pass membrane protein {ECO:0000269|PubMed:15522866}.
Tissue SpecificityUbiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord. {ECO:0000269|PubMed:14569117, ECO:0000269|PubMed:15522866}.
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