InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC9A9

Summary

InnateDB Protein

IDBP-59873.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC9A9

Protein Name

solute carrier family 9 (sodium/hydrogen exchanger), member 9

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000320246

InnateDB Gene

IDBG-59871 (SLC9A9)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:15522866}.

Subcellular Localization

Late endosome membrane {ECO:0000269PubMed:15522866}; Multi-pass membrane protein {ECO:0000269PubMed:15522866}.

Disease Associations

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.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 mental retardation. AUTS16 can be associated with epilepsy. {ECO:0000269PubMed:18621663}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously 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:0000269PubMed:14569117, ECO:0000269PubMed:15522866}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015299	solute:proton antiporter activity
GO:0015385	sodium:proton antiporter activity

Biological Process

GO:0006811	ion transport
GO:0006812	cation transport
GO:0006814	sodium ion transport
GO:0006885	regulation of pH
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport
GO:1902600	hydrogen ion transmembrane transport