SLC17A9
entrez
63910
canonical
uniprot
Q9BYT1
canonical
ensembl
ENSG00000101194
resolver
ensp
ENSP00000359374
resolver
ensp
ENSP00000359376
resolver
genesymbol
SLC17A9
resolver
genesymbol_syn
C20orf59
resolver
hgnc
HGNC:16192
resolver
uniprot
B3KTF2
resolver
uniprot
Q5W198
resolver
uniprot
Q8TB07
resolver
uniprot
Q8TBP4
resolver
uniprot
Q8TEL5
resolver
uniprot
Q9BYT0
resolver
uniprot
Q9BYT2
resolver
uniprot_entry
S17A9_HUMAN
resolver
uniprot_sec
B3KTF2
resolver
uniprot_sec
Q5W198
resolver
uniprot_sec
Q8TB07
resolver
uniprot_sec
Q8TBP4
resolver
uniprot_sec
Q8TEL5
resolver
uniprot_sec
Q9BYT0
resolver
uniprot_sec
Q9BYT2
resolver
activity_regulation
ACTIVITY REGULATION: Activity is chloride-dependent (PubMed:18375752). Inhibited by AMP-PNP, gammaS-ATP, diadenosine triphosphate, 4,4'- diisothiocyanatostilbene-2,2'-disulfonate (DIDS) and Evans blue (PubMed:18375752). {ECO:0000269|PubMed:18375752}.
uniprot
proteins
amino_acid_sequence
MQPPPDEARRDMAGDTQWSRPECQAWTGTLLLGTCLLYCARSSMPICTVSMSQDFGWNKKEAGIVLSSFFWGYCLTQVVGGHLGDRIGGEKVILLSASAWGSITAVTPLLAHLSSAHLAFMTFSRILMGLLQGVYFPALTSLLSQKVRESERAFTYSIVGAGSQFGTLLTGAVGSLLLEWYGWQSIFYFSGGLTLLWVWYVYRYLLSEKDLILALGVLAQSRPVSRHNRVPWRRLFRKPAVWAAVVSQLSAACSFFILLSWLPTFFEETFPDAKGWIFNVVPWLVAIPASLFSGFLSDHLINQGYRAITVRKLMQGMGLGLSSVFALCLGHTSSFCESVVFASASIGLQTFNHSGISVNIQDLAPSCAGFLFGVANTAGALAGVVGVCLGGYLMETTGSWTCLFNLVAIISNLGLCTFLVFGQAQRVDLSSTHEDL
uniprot
proteins
disease_involvement
DISEASE: Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. {ECO:0000269|PubMed:25180256}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. Uses the membrane potential as the driving force to control ATP accumulation in lysosomes and secretory vesicles (PubMed:18375752, PubMed:23467297). By controlling ATP storage in lysosomes, regulates ATP-dependent proteins of these organelles (PubMed:35269509). Also indirectly regulates the exocytosis of ATP through its import into lysosomes in astrocytes and secretory vesicles such as adrenal chromaffin granules, mucin granules and synaptic vesicles (PubMed:18375752, PubMed:23467297). {ECO:0000269|PubMed:18375752, ECO:0000269|PubMed:23467297, ECO:0000269|PubMed:35269509}.
uniprot
proteins
mass_dalton
47482
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Sodium/anion cotransporter family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12693554
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18375752
uniprot
proteins
pubmed
23467297
uniprot
proteins
pubmed
25180256
uniprot
proteins
pubmed
35269509
uniprot
proteins
sequence_length
436
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:Q8VCL5}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:23467297}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000250|UniProtKB:Q8VCL5}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to mucin granules and vesicles. {ECO:0000269|PubMed:23467297}.
uniprot
proteins
transmembrane_region
TRANSMEM 64..84; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 92..112; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 118..138; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 158..178; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 181..201; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 239..259; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 276..296; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 316..336; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 402..422; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins