SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 [Homo sapiens (human)]
| Gene Symbol | SLC9A6 |
| Entrez Gene ID | 10479 |
| Full Name | solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
| Synonyms | KIAA0267, MRSA, NHE6 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xq26.3 |
| Summary | This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants. |
| Disorder | MIM: 300231 Mental retardation, X-linked syndromic, Christianson type, 300243 (3) |
| mRNA | NM_001042537, 110227625 |
| Protein | NP_001036002, 110227626 |
| Product | sodium/hydrogen exchanger 6 isoform a precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_006359, 110227627 |
| Protein | NP_006350, 5454070 |
| Product | sodium/hydrogen exchanger 6 isoform b precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001177651, 294997329 |
| Protein | NP_001171122, 294997330 |
| Product | sodium/hydrogen exchanger 6 isoform c |
| RefSeq Status | REVIEWED |
| hsa04260 | Cardiac muscle contraction |
Reactome
| REACT_19314 | Sodium/Proton exchangers |
| REACT_19397 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| REACT_19118 | SLC-mediated transmembrane transport |
| REACT_15518 | Transmembrane transport of small molecules |
| Homo sapiens (human) | SLC9A6 | NP_001036002.1 |
| Pan troglodytes (chimpanzee) | SLC9A6 | XP_529172.2 |
| Canis lupus familiaris (dog) | SLC9A6 | XP_538181.2 |
| Bos taurus (cattle) | SLC9A6 | NP_001094616.1 |
| Mus musculus (house mouse) | Slc9a6 | NP_766368.1 |
| Rattus norvegicus (Norway rat) | Slc9a6 | XP_217630.3 |
| Gallus gallus (chicken) | SLC9A6 | XP_420229.1 |
| Danio rerio (zebrafish) | slc9a6a | NP_001091726.2 |
| ID | Name | Evidence |
| GO:0006810 | transport | TAS |
| GO:0006811 | ion transport | TAS |
| GO:0006812 | cation transport | IEA |
| GO:0006814 | sodium ion transport | IEA |
| GO:0006885 | regulation of pH | IEA |
| GO:0055085 | transmembrane transport | TAS |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IDA |
| GO:0005768 | endosome | IEA |
| GO:0005789 | endoplasmic reticulum membrane | IDA |
| GO:0005792 | microsome | IDA |
| GO:0005886 | plasma membrane | IDA |
| GO:0016021 | integral to membrane | IEA |
| GO:0031901 | early endosome membrane | IDA |
| GO:0031901 | early endosome membrane | TAS |
| GO:0055038 | recycling endosome membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0015297 | antiporter activity | IEA |
| GO:0015299 | solute:hydrogen antiporter activity | IEA |
| GO:0015385 | sodium:hydrogen antiporter activity | TAS |
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