SLC9A7
Sodium/hydrogen exchanger 7
Also known as: NHE-7, NHE7, SL9A7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96T83
- Gene
- SLC9A7
- Ensembl
- ENSG00000065923
- Chromosome
- X
- Canonical length
- 725 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
725 residues, UniProt reviewed canonical sequence.
>Q96T83|SLC9A7
1 MEPGDAARPG SGRATGAPPP RLLLLPLLLG WGLRVAAAAS ASSSGAAAED SSAMEELATE
61 KEAEESHRQD SVSLLTFILL LTLTILTIWL FKHRRVRFLH ETGLAMIYGL IVGVILRYGT
121 PATSGRDKSL SCTQEDRAFS TLLVNVSGKF FEYTLKGEIS PGKINSVEQN DMLRKVTFDP
181 EVFFNILLPP IIFHAGYSLK KRHFFRNLGS ILAYAFLGTA VSCFIIGNLM YGVVKLMKIM
241 GQLSDKFYYT DCLFFGAIIS ATDPVTVLAI FNELHADVDL YALLFGESVL NDAVAIVLSS
301 SIVAYQPAGL NTHAFDAAAF FKSVGIFLGI FSGSFTMGAV TGVNANVTKF TKLHCFPLLE
361 TALFFLMSWS TFLLAEACGF TGVVAVLFCG ITQAHYTYNN LSVESRSRTK QLFEVLHFLA
421 ENFIFSYMGL ALFTFQKHVF SPIFIIGAFV AIFLGRAAHI YPLSFFLNLG RRHKIGWNFQ
481 HMMMFSGLRG AMAFALAIRD TASYARQMMF TTTLLIVFFT VWIIGGGTTP MLSWLNIRVG
541 VEEPSEEDQN EHHWQYFRVG VDPDQDPPPN NDSFQVLQGD GPDSARGNRT KQESAWIFRL
601 WYSFDHNYLK PILTHSGPPL TTTLPAWCGL LARCLTSPQV YDNQEPLREE DSDFILTEGD
661 LTLTYGDSTV TANGSSSSHT ASTSLEGSRR TKSSSEEVLE RDLGMGDQKV SSRGTRLVFP
721 LEDNALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC9A7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 13
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 29 nTPM
- hypothalamus: 9.4 nTPM
- pituitary gland: 8.7 nTPM
- parathyroid gland: 8.4 nTPM
- cerebellum: 8 nTPM
- cerebral cortex: 8 nTPM
Single-cell type
- gonadotrophs: 260 nCPM
- cardiomyocytes: 219 nCPM
- brain inhibitory neurons: 156 nCPM
- hematopoietic stem cells: 153 nCPM
- b-cells: 152 nCPM
- pdcs: 151 nCPM
Immune cell
- plasmacytoid DC: 2.7 nTPM
- naive B-cell: 1.7 nTPM
- memory B-cell: 1.6 nTPM
- myeloid DC: 1.1 nTPM
- neutrophil: 0.8 nTPM
- NK-cell: 0.5 nTPM
Brain region
- basal ganglia: 99 nTPM
- hypothalamus: 48 nTPM
- pons: 43 nTPM
- medulla oblongata: 40 nTPM
- cerebral cortex: 35 nTPM
- thalamus: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC9A7.
Disease | AllUniProt
Conditions SLC9A7 is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked 108 (XLID108) MIM:301024
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 310 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder, X-linked 108
- SLC9A7-related neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.12
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- monoatomic ion transport
- potassium ion transmembrane transport
- regulation of Golgi lumen acidification
- regulation of intracellular pH
- regulation of pH
- sodium ion import across plasma membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC9A7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC9A7 as an antibody target. Whether an autoantibody or antibody against SLC9A7 could matter depends on whether native SLC9A7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC9A7 is annotated at the cell surface, where native SLC9A7 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC9A7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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