SLC17A9

Protein identityUniProt · HPA

UniProt accession

Q9BYT1

Gene

SLC17A9

Ensembl

ENSG00000101194

Chromosome

20

Canonical length

436 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

436 residues, UniProt reviewed canonical sequence.

>Q9BYT1|SLC17A9
     1  MQPPPDEARR DMAGDTQWSR PECQAWTGTL LLGTCLLYCA RSSMPICTVS MSQDFGWNKK
    61  EAGIVLSSFF WGYCLTQVVG GHLGDRIGGE KVILLSASAW GSITAVTPLL AHLSSAHLAF
   121  MTFSRILMGL LQGVYFPALT SLLSQKVRES ERAFTYSIVG AGSQFGTLLT GAVGSLLLEW
   181  YGWQSIFYFS GGLTLLWVWY VYRYLLSEKD LILALGVLAQ SRPVSRHNRV PWRRLFRKPA
   241  VWAAVVSQLS AACSFFILLS WLPTFFEETF PDAKGWIFNV VPWLVAIPAS LFSGFLSDHL
   301  INQGYRAITV RKLMQGMGLG LSSVFALCLG HTSSFCESVV FASASIGLQT FNHSGISVNI
   361  QDLAPSCAGF LFGVANTAGA LAGVVGVCLG GYLMETTGSW TCLFNLVAII SNLGLCTFLV
   421  FGQAQRVDLS STHEDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC17A9 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

Other membrane

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC17A9.

Disease | AllUniProt

Conditions SLC17A9 is implicated in, by any mechanism.

• Porokeratosis 8, disseminated superficial actinic type (POROK8) MIM:616063

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Porokeratosis 8, disseminated superficial actinic type

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)

1.39

gnomAD pLI

0

gnomAD missense Z

1.29

DepMap mean gene effect

0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ADP transport
• ATP export
• ATP transport
• lysosomal protein catabolic process
• guanine nucleotide transmembrane transport
• purine nucleotide import into lysosome

Molecular functions

• ADP transmembrane transporter activity
• ATP transmembrane transporter activity
• guanine nucleotide transmembrane transporter activity
• purine nucleotide uniporter activity

Cellular components

• chromaffin granule membrane
• lysosomal membrane
• mucin granule
• transport vesicle membrane

Protein domainsUniProt · Pfam · InterPro

• Sugar transporter, conserved site
• Major facilitator superfamily
• Major facilitator superfamily domain
• MFS transporter superfamily
• Major Facilitator Superfamily Sodium/Anion Cotransporter
• Major Facilitator Superfamily
• Solute carrier family 17 member 9-like

KeywordsUniProt

• Cytoplasmic vesicle
• Lysosome
• Membrane
• Transmembrane
• Transmembrane helix
• Transport