|
SLC9A9
May 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. 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. Defects in SLC9A9 are a cause of susceptibility to autism type 16 (AUTS16). Autism is 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. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. Note: This description may include information from UniProtKB.
|
| Protein type: Membrane protein, integral; Transporter |
|
Cellular Component: recycling endosome; late endosome membrane; integral to membrane
|
|
Molecular Function: sodium:hydrogen antiporter activity
|
|
Biological Process: regulation of pH; ion transport; transmembrane transport
|
|
Reference #:
Q8IVB4 (UniProtKB)
|
| Alt. Names/Synonyms: FLJ35613; Na(+)/H(+) exchanger 9; NHE-9; NHE9; putative protein product of Nbla00118; SL9A9; SLC9A9; Sodium/hydrogen exchanger 9; sodium/proton exchanger NHE9; solute carrier family 9 (sodium/hydrogen exchanger), isoform 9; solute carrier family 9 (sodium/hydrogen exchanger), member 9; Solute carrier family 9 member 9 |
| Gene Symbols: SLC9A9 |
|
Molecular weight: 72,565 Da
|
|
Basal Isoelectric point: 5.8
Predict pI for various phosphorylation states
|
