Entity Details
Primary name |
SL9A9_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | Q8IVB4 |
EntryName | SL9A9_HUMAN |
FullName | Sodium/hydrogen exchanger 9 |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 645 |
SequenceStatus | complete |
DateCreated | 2004-03-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Late endosome membrane |
Domains
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Domain | Name | Category | Type |
IPR002090 | Na+/H+ exchanger, isoform 6/7/9 | Family | Family |
IPR004709 | Na+/H+ exchanger | Family | Family |
IPR006153 | Cation/H+ exchanger | Domain | Domain |
IPR018416 | Na+/H+ exchanger 9 | Family | Family |
IPR018422 | Cation/H+ exchanger, CPA1 family | Family | Family |
Diseases
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Disease ID | Source | Name | Description |
613410 | OMIM | Autism 16 (AUTS16) | 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. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
Interactions
3 interactions