• Gene id: 63910

Gene Summary

• Gene Symbol: SLC17A9   Gene   UCSC   Ensembl
• Aliases: C20orf59, POROK8, VNUT
• Gene name: solute carrier family 17 member 9
• Alternate names: solute carrier family 17 member 9, solute carrier family 17 (vesicular nucleotide transporter), member 9, vesicular nucleotide transporter SLC17A9,
• Gene location: 20q13.33 (62952689: 62969584)     Exons: 14     NC_000020.11
• Gene summary(Entrez): 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.
• OMIM: 613201

Protein Summary

• Protein general information: Q9BYT1  
  • Name: Solute carrier family 17 member 9
  • Length: 436  
  • Mass: 47482
  • Tissue specificity: Predominantly expressed in adrenal gland, brain and thyroid. {ECO
• Sequence:

  MQPPPDEARRDMAGDTQWSRPECQAWTGTLLLGTCLLYCARSSMPICTVSMSQDFGWNKKEAGIVLSSFFWGYCL
  TQVVGGHLGDRIGGEKVILLSASAWGSITAVTPLLAHLSSAHLAFMTFSRILMGLLQGVYFPALTSLLSQKVRES
  ERAFTYSIVGAGSQFGTLLTGAVGSLLLEWYGWQSIFYFSGGLTLLWVWYVYRYLLSEKDLILALGVLAQSRPVS
  RHNRVPWRRLFRKPAVWAAVVSQLSAACSFFILLSWLPTFFEETFPDAKGWIFNVVPWLVAIPASLFSGFLSDHL
  INQGYRAITVRKLMQGMGLGLSSVFALCLGHTSSFCESVVFASASIGLQTFNHSGISVNIQDLAPSCAGFLFGVA
  NTAGALAGVVGVCLGGYLMETTGSWTCLFNLVAIISNLGLCTFLVFGQAQRVDLSSTHEDL

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  IPR005829  
  • Prosite: PS50850 PS00217
  • STRING: ENSP00000359376
• Other Databases: GeneCards:  SLC17A9  Malacards:  SLC17A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006820	anion transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Porokeratosis	KEGG:H01933
Porokeratosis	KEGG:H01933
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R