SLC9A9
Sodium/hydrogen exchanger 9
Also known as: FLJ35613, NHE9, SL9A9_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IVB4
- Gene
- SLC9A9
- Ensembl
- ENSG00000181804
- Chromosome
- 3
- Canonical length
- 645 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
645 residues, UniProt reviewed canonical sequence.
>Q8IVB4|SLC9A9
1 MERQSRVMSE KDEYQFQHQG AVELLVFNFL LILTILTIWL FKNHRFRFLH ETGGAMVYGL
61 IMGLILRYAT APTDIESGTV YDCVKLTFSP STLLVNITDQ VYEYKYKREI SQHNINPHQG
121 NAILEKMTFD PEIFFNVLLP PIIFHAGYSL KKRHFFQNLG SILTYAFLGT AISCIVIGLI
181 MYGFVKAMIH AGQLKNGDFH FTDCLFFGSL MSATDPVTVL AIFHELHVDP DLYTLLFGES
241 VLNDAVAIVL TYSISIYSPK ENPNAFDAAA FFQSVGNFLG IFAGSFAMGS AYAIITALLT
301 KFTKLCEFPM LETGLFFLLS WSAFLSAEAA GLTGIVAVLF CGVTQAHYTY NNLSSDSKIR
361 TKQLFEFMNF LAENVIFCYM GLALFTFQNH IFNALFILGA FLAIFVARAC NIYPLSFLLN
421 LGRKQKIPWN FQHMMMFSGL RGAIAFALAI RNTESQPKQM MFTTTLLLVF FTVWVFGGGT
481 TPMLTWLQIR VGVDLDENLK EDPSSQHQEA NNLDKNMTKA ESARLFRMWY SFDHKYLKPI
541 LTHSGPPLTT TLPEWCGPIS RLLTSPQAYG EQLKEDDVEC IVNQDELAIN YQEQASSPCS
601 PPARLGLDQK ASPQTPGKEN IYEGDLGLGG YELKLEQTLG QSQLNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC9A9 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
- 12
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 19 nTPM
- placenta: 15 nTPM
- thymus: 14 nTPM
- lymph node: 14 nTPM
- urinary bladder: 13 nTPM
- tonsil: 13 nTPM
Single-cell type
- medullary thymic epithelial cells: 1,572 nCPM
- microglia: 1,383 nCPM
- hofbauer cells: 1,256 nCPM
- macrophages: 831 nCPM
- kupffer cells: 703 nCPM
- corticotrophs: 540 nCPM
Immune cell
- intermediate monocyte: 11 nTPM
- T-reg: 9.3 nTPM
- non-classical monocyte: 9.1 nTPM
- myeloid DC: 8.4 nTPM
- memory CD8 T-cell: 7.5 nTPM
- classical monocyte: 6.2 nTPM
Brain region
- medulla oblongata: 41 nTPM
- white matter: 36 nTPM
- hypothalamus: 32 nTPM
- spinal cord: 28 nTPM
- basal ganglia: 27 nTPM
- thalamus: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC9A9.
Disease | AllUniProt
Conditions SLC9A9 is implicated in, by any mechanism.
- Autism 16 (AUTS16) MIM:613410
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 145 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Colorectal cancer
- Autism, susceptibility to, 16
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)
- 0.96
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.25
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- defense response to bacterium
- monoatomic ion transport
- phagosome maturation
- potassium ion transmembrane transport
- regulation of intracellular pH
- sodium ion import across plasma membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC9A9 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 SLC9A9 as an antibody target. Whether an autoantibody or antibody against SLC9A9 could matter depends on whether native SLC9A9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC9A9 is annotated at the cell surface, where native SLC9A9 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 SLC9A9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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