SLC9A7 - solute carrier family 9 member A7 Gene
Also Known as NHE7; NHE-7; MRX108; SLC9A6
Species: Homo sapiens
About SLC9A7
This gene has 5 transcripts (splice variants), 202 orthologues, 10 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 6.0), lymph node (RPKM 3.6) and 24 other tissues.
Summary
This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
SLC9A7 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001257291.2 | NP_001244220.1 | sodium/hydrogen exchanger 7 isoform 1 precursor |
| NM_032591.3 | NP_115980.1 | sodium/hydrogen exchanger 7 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables potassium:proton antiporter activity |
IDA
IDA: Inferred from direct assay
|
11279194 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15840657 | GOA |
| enables sodium:proton antiporter activity |
IDA
IDA: Inferred from direct assay
|
11279194 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in regulation of Golgi lumen acidification |
IMP
IMP: Inferred from mutant phenotype
|
30335141 | GOA |
| involved in regulation of pH |
IDA
IDA: Inferred from direct assay
|
11279194 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in membrane |
IDA
IDA: Inferred from direct assay
|
11279194 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
30335141 | GOA |
| located in recycling endosome membrane |
IDA
IDA: Inferred from direct assay
|
15840657 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
11279194 | GOA |
SLC9A7 Protein Structure
Na_H_Exchanger: Sodium/hydrogen exchanger family (79 - 534)
- 0
- 200
- 400
- 600
- 725 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium/hydrogen exchanger 7 |
|
SLC9A7 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC9A7 | Q96T83 | SCAMP2 | Homo sapiens | O15127 | 15840657 | |
|
Intra
|
SLC9A7 | Q96T83 | SCAMP2 | Homo sapiens | O15127 | 15840657 | |
|
Intra
|
SLC9A7 | Q96T83 | SCAMP2 | Homo sapiens | O15127 | 15840657 | |
|
Intra
|
SLC9A7 | Q96T83 | SCAMP2 | Homo sapiens | O15127 | 15840657 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intellectual Developmental Disorder, X-Linked 108 |
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
|
| Christianson Syndrome |
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
|
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
|
| Brown-Vialetto-Van Laere Syndrome 1 |
|
|
| Cystinuria |
|
|
| Mowat-Wilson Syndrome |
|
|
| Syndromic X-Linked Intellectual Disability |
|
|
| Pitt-Hopkins Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 94 |
|
|
| Syndromic Intellectual Disability |
|
|
| Landau-Kleffner Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 41 |
|
|
| Congenital Nervous System Abnormality |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| West Syndrome |
|
|
| Microcephaly |
|
|